1

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all 100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J; Chan, G; Williams, HJ; Ratnaike, T; Wei, W; Stirrups, K; Ibanez, K; Moutsianas, L; Wielscher, M; Need, A; Barnes, MR; Vestito, L; Buchanan, J; Wordsworth, S; Ashford, S; Rehmström, K; Li, E; Fuller, G; Twiss, P; Spasic-Boskovic, O; Halsall, S; Floto, RA; Poole, K; Wagner, A; Mehta, SG; Gurnell, M; Burrows, N; James, R; Penkett, C; Dewhurst, E; Gräf, S; Mapeta, R; Kasanicki, M; Haworth, A; Savage, H; Babcock, M; Reese, MG; Bale, M; Baple, E; Boustred, C; Brittain, H; de Burca, A; Bleda, M; Devereau, A; Halai, D; Haraldsdottir, E; Hyder, Z; Kasperaviciute, D; Patch, C; Polychronopoulos, D; Matchan, A; Sultana, R; Ryten, M; Tavares, ALT; Tregidgo, C; Turnbull, C; Welland, M; Wood, S; Snow, C; Williams, E; Leigh, S; Foulger, RE; Daugherty, LC; Niblock, O; Leong, IUS; Wright, CF; Davies, J; Crichton, C; Welch, J; Woods, K; Abulhoul, L; Aurora, P; Bockenhauer, D; Broomfield, A; Cleary, MA; Lam, T; Dattani, M; Footitt, E; Ganesan, V; Grunewald, S; Compeyrot-Lacassagne, S; Muntoni, F; Pilkington, C; Quinlivan, R; Thapar, N; Wallis, C; Wedderburn, LR; Worth, A; Bueser, T; Compton, C; Deshpande, C; Fassihi, H; Haque, E; Izatt, L; Josifova, D; Mohammed, S; Robert, L; Rose, S; Ruddy, D; Sarkany, R; Say, G; Shaw, AC; Wolejko, A; Habib, B; Burns, G; Hunter, S; Grocock, RJ; Humphray, SJ; Robinson, PN; Haendel, M; Simpson, MA; Banka, S; Clayton-Smith, J; Douzgou, S; Hall, G; Thomas, HB; O'Keefe, RT; Michaelides, M; Moore, AT; Malka, S; Pontikos, N; Browning, AC; Straub, V; Gorman, GS; Horvath, R; Quinton, R; Schaefer, AM; Yu-Wai-Man, P; Turnbull, DM; McFarland, R; Taylor, RW; O'Connor, E; Yip, J; Newland, K; Morris, HR; Polke, J; Wood, NW; Campbell, C; Camps, C; Gibson, K; Koelling, N; Lester, T; Németh, AH; Palles, C; Patel, S; Roy, NBA; Sen, A; Taylor, J; Cacheiro, P; Jacobsen, JO; Seaby, EG; Davison, V; Chitty, L; Douglas, A; Naresh, K; McMullan, D; Ellard, S; Temple, IK; Mumford, AD; Wilson, G; Beales, P; Bitner-Glindzicz, M; Black, G; Bradley, JR; Brennan, P; Burn, J; Chinnery, PF; Elliott, P; Flinter, F; Houlden, H; Irving, M; Newman, W; Rahman, S; Sayer, JA; Taylor, JC; Webster, AR; Wilkie, AOM; Ouwehand, WH; Raymond, FL; Chisholm, J; Hill, S; Bentley, D; Scott, RH; Fowler, T; Rendon, A; Caulfield, M; - view fewer (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790.

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Aartsma-Rus, A; Morgan, J; Lonkar, P; Neubert, H; Owens, J; Binks, M; Montolio, M; ... Arechavala-Gomeza, V; + view all Aartsma-Rus, A; Morgan, J; Lonkar, P; Neubert, H; Owens, J; Binks, M; Montolio, M; Phadke, R; Datson, N; Van Deutekom, J; Morris, GE; Rao, VA; Hoffman, EP; Muntoni, F; Arechavala-Gomeza, V; - view fewer (2019) Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology. Journal of Neuromuscular Diseases , 6 (1) pp. 147-159. 10.3233/JND-180357.

Aartsma-Rus, A; Straub, V; Hemmings, R; Haas, M; Schlosser-Weber, G; Stoyanova-Beninska, V; Mercuri, E; ... Balabanov, P; + view all Aartsma-Rus, A; Straub, V; Hemmings, R; Haas, M; Schlosser-Weber, G; Stoyanova-Beninska, V; Mercuri, E; Muntoni, F; Sepodes, B; Vroom, E; Balabanov, P; - view fewer (2017) Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues. [Review]. Nucleic Acid Ther 10.1089/nat.2017.0682. (In press).

Abdel-Mannan, O; D'Argenzio, L; Pitt, M; D'Arco, F; Bhate, S; Hacohen, Y; Kaliakatsos, M; (2019) Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia. Child Neurology Open , 6 (1-5) 10.1177/2329048X19856778.

Abdi, Suad S; De Haan, Michelle; Kirkham, Fenella J; (2023) Neuroimaging and Cognitive Function in Sickle Cell Disease: A Systematic Review. Children , 10 (3) , Article 532. 10.3390/children10030532.

Abdullahi, Shehu U; Jibir, Binta W; Bello-Manga, Halima; Gambo, Safiya; Inuwa, Hauwa; Tijjani, Aliyu G; Idris, Nura; ... DeBaun, Michael R; + view all Abdullahi, Shehu U; Jibir, Binta W; Bello-Manga, Halima; Gambo, Safiya; Inuwa, Hauwa; Tijjani, Aliyu G; Idris, Nura; Galadanci, Aisha; Hikima, Mustapha S; Galadanci, Najibah; Borodo, Awwal; Tabari, Abdulkadir M; Haliru, Lawal; Suleiman, Aisha; Ibrahim, Jamila; Greene, Brittany C; Ghafuri, Djamila L; Rodeghier, Mark; Slaughter, James C; Kirkham, Fenelia J; Neville, Kathleen; Kassim, Adetola; Trevathan, Edwin; Jordan, Lori C; Aliyu, Mulctar H; DeBaun, Michael R; - view fewer (2022) Hydroxyurea for primary stroke prevention in children with sickle cell anaemia in Nigeria (SPRING): a double-blind, multicentre, randomised, phase 3 trial. The Lancet Haematology , 9 (1) E26-E37. 10.1016/S2352-3026(21)00368-9.

Abdullahi, SU; Wudil, BJ; Bello-Manga, H; Musa, AB; Gambo, S; Galadanci, NA; Aminu, H; ... DeBaun, MR; + view all Abdullahi, SU; Wudil, BJ; Bello-Manga, H; Musa, AB; Gambo, S; Galadanci, NA; Aminu, H; Tijjani Gaya, A; Sanusi, S; Tabari, MA; Galadanci, A; Borodo, A; Abba, MS; Dambatta, AH; Haliru, L; Gambo, A; Cassell, H; Rodeghier, M; Ghafuri, DL; Covert Greene, BV; Neville, K; Kassim, AA; Kirkham, F; Trevathan, E; Jordan, LC; Aliyu, MH; DeBaun, MR; - view fewer (2021) Primary prevention of stroke in children with sickle cell anemia in sub-Saharan Africa: rationale and design of phase III randomized clinical trial. Pediatric Hematology and Oncology , 38 (1) pp. 49-64. 10.1080/08880018.2020.1810183.

Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M; ... Kurian, Manju A; + view all Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M; Lignani, Gabriele; Barral, Serena; Kurian, Manju A; - view fewer (2024) Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy. Brain , Article awae020. 10.1093/brain/awae020. (In press).

Abela, L; Kurian, MA; (2018) Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms. Journal of Inherited Metabolic Disease , 41 (6) pp. 1077-1091. 10.1007/s10545-018-0205-0.

Abiramalatha, T; Thanigainathan, S; Ramaswamy, VV; Pressler, R; Brigo, F; Hartmann, H; (2022) Antiseizure medications for neonates with seizures. Cochrane Database of Systematic Reviews , 2022 (3) , Article CD014967. 10.1002/14651858.CD014967.

Abiramalatha, Thangaraj; Thanigainathan, Sivam; Ramaswamy, Viraraghavan Vadakkencherry; Pressler, Ronit; Brigo, Francesco; Hartmann, Hans; (2023) Anti-seizure medications for neonates with seizures. Cochrane Database of Systematic Reviews , 10 (10) , Article CD014967. 10.1002/14651858.CD014967.pub2.

Absalom, NL; Liao, VWY; Kothur, K; Indurthi, DC; Bennetts, B; Troedson, C; Mohammad, SS; ... Chebib, M; + view all Absalom, NL; Liao, VWY; Kothur, K; Indurthi, DC; Bennetts, B; Troedson, C; Mohammad, SS; Gupta, S; McGregor, IS; Bowen, MT; Lederer, D; Mary, S; De Waele, L; Jansen, K; Gill, D; Kurian, MA; McTague, A; Møller, RS; Ahring, PK; Dale, RC; Chebib, M; - view fewer (2020) Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Brain Communications , 2 (2) fcaa162. 10.1093/braincomms/fcaa162.

Adams, SP; Gravett, E; Kent, N; Kricke, S; Ifederu, A; Scoto, M; Samsuddin, S; Adams, SP; Gravett, E; Kent, N; Kricke, S; Ifederu, A; Scoto, M; Samsuddin, S; Muntoni, F; - view fewer (2021) Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. International Journal of Neonatal Screening , 7 (4) , Article 69. 10.3390/ijns7040069.

Adkin, CF; Meloni, PL; Fletcher, S; Adams, AM; Muntoni, F; Wong, B; Wilton, SD; (2012) Multiple exon skipping strategies to by-pass dystrophin mutations. Neuromuscular Disorders , 22 (4) 297 - 305. 10.1016/j.nmd.2011.10.007.

Adlam, ALR; Vargha-Khadem, F; Mishkin, M; de Haan, M; (2005) Deferred imitation of action sequences in developmental amnesia. J COGNITIVE NEUROSCI , 17 (2) 240 - 248.

Adler, S; Blackwood, M; Northam, GB; Gunny, R; Hong, SJ; Bernhardt, BC; Bernasconi, A; ... Baldeweg, T; + view all Adler, S; Blackwood, M; Northam, GB; Gunny, R; Hong, SJ; Bernhardt, BC; Bernasconi, A; Bernasconi, N; Jacques, T; Tisdall, M; Carmichael, DW; Cross, JH; Baldeweg, T; - view fewer (2018) Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis. Annals of Clinical and Translational Neurology , 5 (10) pp. 1200-1210. 10.1002/acn3.634.

Adler, S; Hong, S-J; Liu, M; Baldeweg, T; Cross, JH; Bernasconi, A; Bernhardt, BC; Adler, S; Hong, S-J; Liu, M; Baldeweg, T; Cross, JH; Bernasconi, A; Bernhardt, BC; Bernasconi, N; - view fewer (2018) Topographic principles of cortical fluid-attenuated inversion recovery signal in temporal lobe epilepsy. Epilepsia , 59 (3) pp. 627-635. 10.1111/epi.14017.

Adler, S; Lorio, S; Jacques, TS; Benova, B; Gunny, R; Cross, JH; Baldeweg, T; Adler, S; Lorio, S; Jacques, TS; Benova, B; Gunny, R; Cross, JH; Baldeweg, T; Carmichael, DW; - view fewer (2017) Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI. NeuroImage: Clinical , 15 pp. 95-105. 10.1016/j.nicl.2017.04.017.

Adler, S; Wagstyl, K; Gunny, R; Ronan, L; Carmichael, D; Cross, JH; Fletcher, PC; Adler, S; Wagstyl, K; Gunny, R; Ronan, L; Carmichael, D; Cross, JH; Fletcher, PC; Baldeweg, T; - view fewer (2017) Novel surface features for automated detection of focal cortical dysplasias in paediatric epilepsy. NeuroImage: Clinical , 14 pp. 18-27. 10.1016/j.nicl.2016.12.030.

Adler, SBK; (2017) Cortical Morphology and MRI Signal Intensity Analysis in Paediatric Epilepsy. Doctoral thesis (Ph.D), UCL (University College London).

Aguilar, JI; Cheng, MH; Font, J; Schwartz, AC; Ledwitch, K; Duran, A; Mabry, SJ; ... Galli, A; + view all Aguilar, JI; Cheng, MH; Font, J; Schwartz, AC; Ledwitch, K; Duran, A; Mabry, SJ; Belovich, AN; Zhu, Y; Carter, AM; Shi, L; Kurian, MA; Fenollar-Ferrer, C; Meiler, J; Ryan, RM; Mchaourab, HS; Bahar, I; Matthies, HJ; Galli, A; - view fewer (2021) Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia. eLife , 10 , Article e68039. 10.7554/eLife.68039.

Aguti, S; Bolduc, V; Ala, P; Turmaine, M; Bönnemann, CG; Muntoni, F; Zhou, H; (2020) Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy - Nucleic Acids , 21 pp. 205-216. 10.1016/j.omtn.2020.05.029.

Aguti, S; Malerba, A; Zhou, H; (2018) The progress of AAV-mediated gene therapy in neuromuscular disorders. Expert Opinion on Biological Therapy , 18 (6) pp. 681-693. 10.1080/14712598.2018.1479739.

Aharoni, S; Barwick, KES; Straussberg, R; Harlalka, GV; Nevo, Y; Chioza, BA; McEntagart, MM; ... Crosby, AH; + view all Aharoni, S; Barwick, KES; Straussberg, R; Harlalka, GV; Nevo, Y; Chioza, BA; McEntagart, MM; Mimouni-Bloch, A; Weedon, M; Crosby, AH; - view fewer (2016) Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. BMC Medical Genetics , 17 , Article 82. 10.1186/s12881-016-0343-x.

Ahluwalia, TS; Prins, BP; Abdollahi, M; Armstrong, NJ; Aslibekyan, S; Bain, L; Jefferis, B; ... Alizadeh, BZ; + view all Ahluwalia, TS; Prins, BP; Abdollahi, M; Armstrong, NJ; Aslibekyan, S; Bain, L; Jefferis, B; Baumert, J; Beekman, M; Ben-Shlomo, Y; Bis, JC; Mitchell, BD; de Geus, E; Delgado, GE; Marek, D; Eriksson, J; Kajantie, E; Kanoni, S; Kemp, JP; Lu, C; Marioni, RE; McLachlan, S; Milaneschi, Y; Nolte, IM; Petrelis, AM; Porcu, E; Sabater-Lleal, M; Naderi, E; Seppälä, I; Shah, T; Singhal, G; Standl, M; Teumer, A; Thalamuthu, A; Thiering, E; Trompet, S; Ballantyne, CM; Benjamin, EJ; Casas, JP; Toben, C; Dedoussis, G; Deelen, J; Durda, P; Engmann, J; Feitosa, MF; Grallert, H; Hammarstedt, A; Harris, SE; Homuth, G; Hottenga, J; Jalkanen, S; Jamshidi, Y; Jawahar, MC; Jess, T; Kivimaki, M; Kleber, ME; Lahti, J; Liu, Y; Marques-Vidal, P; Mellström, D; Mooijaart, SP; Müller-Nurasyid, M; Penninx, B; Revez, JA; Rossing, P; Räikkönen, K; Sattar, N; Scharnagl, H; Sennblad, B; Silveira, A; Pourcain, BS; Timpson, NJ; Trollor, J; CHARGE Inflammation Working Group, .; van Dongen, J; Van Heemst, D; Visvikis-Siest, S; Vollenweider, P; Völker, U; Waldenberger, M; Willemsen, G; Zabaneh, D; Morris, RW; Arnett, DK; Baune, BT; Boomsma, DI; Chang, YC; Deary, IJ; Deloukas, P; Eriksson, JG; Evans, DM; Ferreira, MA; Gaunt, T; Gudnason, V; Hamsten, A; Heinrich, J; Hingorani, A; Humphries, SE; Jukema, JW; Koeing, W; Kumari, M; Kutalik, Z; Lawlor, DA; Lehtimäki, T; März, W; Mather, K; Naitza, S; Nauck, M; Ohlsson, C; Price, JF; Raitakari, O; Rice, K; Sachdev, PS; Slagboom, E; Sørensen, TIA; Spector, T; Stacey, D; Stathopoulou, MG; Tanaka, T; Wannamethee, SG; Whincup, P; Rotter, JI; Dehghan, A; Boerwinkle, E; Psaty, BM; Snieder, H; Alizadeh, BZ; - view fewer (2021) Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci. Human Molecular Genetics , 30 (5) pp. 393-409. 10.1093/hmg/ddab023.

Al-Yassin, A; Saunders, DE; Mackay, MT; Ganesan, V; (2015) Early-onset bilateral cerebral arteriopathies Cohort study of phenotype and disease course. Neurology , 85 (13) pp. 1146-1153. 10.1212/WNL.0000000000001969.

Alameddine, HS; Morgan, JE; (2016) Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles. Journal of Neuromuscular Diseases , 3 (4) pp. 455-473. 10.3233/JND-160183.

Allen, Richard J; Atkinson, Amy L; Vargha-Khadem, Faraneh; Baddeley, Alan D; (2022) Intact high-resolution working memory binding in a patient with developmental amnesia and selective hippocampal damage. Hippocampus 10.1002/hipo.23452. (In press).

AlMail, Ali; Jamjoom, Ahmed; Pan, Amy; Feng, Min Yi; Chau, Vann; D'Gama, Alissa M; Howell, Katherine; ... Costain, Gregory; + view all AlMail, Ali; Jamjoom, Ahmed; Pan, Amy; Feng, Min Yi; Chau, Vann; D'Gama, Alissa M; Howell, Katherine; Liang, Nicole SY; McTague, Amy; Poduri, Annapurna; Wiltrout, Kimberly; IPCHiP Executive Committee; Bassett, Anne S; Christodoulou, John; Dupuis, Lucie; Gill, Peter; Levy, Tess; Siper, Paige; Stark, Zornitza; Vorstman, Jacob AS; Diskin, Catherine; Jewitt, Natalie; Baribeau, Danielle; Costain, Gregory; - view fewer (2024) Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. npj Genomic Medicine , 9 (1) , Article 27. 10.1038/s41525-024-00408-w.

Alvarez, I; de Haas, B; Clark, CA; Rees, G; Schwarzkopf, DS; (2015) Comparing different stimulus configurations for population receptive field mapping in human fMRI. Front Hum Neurosci , 9 , Article 96. 10.3389/fnhum.2015.00096.

Alvarez, I; Schwarzkopf, DS; Clark, CA; (2015) Extrastriate projections in human visual system: Evidence from fMRI-informed tractography. Brain Structure and Function , 220 (5) pp. 2519-2532. 10.1007/s00429-014-0799-4.

Alvarez, I; Smittenaar, R; Handley, SE; Liasis, A; Sereno, MI; Schwarzkopf, DS; Clark, CA; (2020) Altered visual population receptive fields in human albinism. Cortex , 128 pp. 107-123. 10.1016/j.cortex.2020.03.016.

Alves, CAPF; Sherbini, O; D'Arco, F; Steel, D; Kurian, MA; Radio, FC; Ferrero, GB; ... Vanderver, A; + view all Alves, CAPF; Sherbini, O; D'Arco, F; Steel, D; Kurian, MA; Radio, FC; Ferrero, GB; Carli, D; Tartaglia, M; Balci, TB; Powell-Hamilton, NN; Schrier Vergano, SA; Reutter, H; Hoefele, J; Günthner, R; Roeder, ER; Littlejohn, RO; Lessel, D; Lüttgen, S; Kentros, C; Anyane-Yeboa, K; Catarino, CB; Mercimek-Andrews, S; Denecke, J; Lyons, MJ; Klopstock, T; Bhoj, EJ; Bryant, L; Vanderver, A; - view fewer (2022) Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. American Journal of Neuroradiology , 43 (7) pp. 1048-1053. 10.3174/ajnr.A7555.

Alves, R; Henriques, RN; Kerkelä, L; Chavarrías, C; Jespersen, SN; Shemesh, N; (2022) Correlation Tensor MRI deciphers underlying kurtosis sources in stroke. NeuroImage , 247 , Article 118833. 10.1016/j.neuroimage.2021.118833.

Alves Nery, Fábio Rui; (2018) Development of an optimised non-invasive MRI method to measure renal perfusion in patients with impaired renal function. Doctoral thesis (Ph.D), UCL (University College London).

Amin, Sam; Monaghan, Marie; Aledo-Serrano, Angel; Bahi-Buisson, Nadia; Chin, Richard F; Clarke, Angus J; Cross, J Helen; ... Benke, Tim A; + view all Amin, Sam; Monaghan, Marie; Aledo-Serrano, Angel; Bahi-Buisson, Nadia; Chin, Richard F; Clarke, Angus J; Cross, J Helen; Demarest, Scott; Devinsky, Orrin; Downs, Jenny; Pestana Knight, Elia M; Olson, Heather; Partridge, Carol-Anne; Stuart, Graham; Trivisano, Marina; Zuberi, Sameer; Benke, Tim A; - view fewer (2022) International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder. Frontiers in Neurology , 13 , Article 874695. 10.3389/fneur.2022.874695.

Amin, S; Kingswood, JC; Bolton, PF; Elmslie, F; Gale, DP; Harland, C; Johnson, SR; ... O'Callaghan, FJ; + view all Amin, S; Kingswood, JC; Bolton, PF; Elmslie, F; Gale, DP; Harland, C; Johnson, SR; Parker, A; Sampson, JR; Smeaton, M; Wright, I; O'Callaghan, FJ; - view fewer (2018) The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM: An International Journal of Medicine , Article hcy215. 10.1093/qjmed/hcy215.

Amin, S; Lux, A; Calder, N; Laugharne, M; Osborne, J; O'callaghan, F; (2017) Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol , 59 (6) pp. 612-617. 10.1111/dmcn.13352.

Amin, S; Lux, A; Khan, A; O'Callaghan, F; (2017) Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex. Int Sch Res Notices , 2017 , Article 8404378. 10.1155/2017/8404378.

Amin, S; Lux, A; O'Callaghan, F; (2019) The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth. British Journal of Clinical Pharmacology , 85 (1) pp. 37-46. 10.1111/bcp.13780.

Amin, S; Mallick, AA; Edwards, H; Cortina-Borja, M; Laugharne, M; Likeman, M; O'Callaghan, FJK; (2021) The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial. EClinicalMedicine , Article 100715. 10.1016/j.eclinm.2020.100715. (In press).

Amin, S; Mallick, AA; Lux, A; O'Callaghan, F; (2019) Quality of life in patients with Tuberous Sclerosis Complex (TSC). European Journal of Paediatric Neurology , 23 (6) pp. 801-807. 10.1016/j.ejpn.2019.09.006.

Amin, S; Slaney, K; O'Callaghan, FJ; (2017) Musculoskeletal involvement in tuberous sclerosis. Archives of Disease in Childhood , 102 (2) p. 178. 10.1136/archdischild-2016-310980.

Amor, F; Vu Hong, A; Corre, G; Sanson, M; Suel, L; Blaie, S; Servais, L; ... Israeli, D; + view all Amor, F; Vu Hong, A; Corre, G; Sanson, M; Suel, L; Blaie, S; Servais, L; Voit, T; Richard, I; Israeli, D; - view fewer (2021) Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle , 12 (3) pp. 677-693. 10.1002/jcsm.12708.

Ampomah, Mary A; Drake, Jermon A; Anum, Adote; Amponsah, Benjamin; Dei-Adomakoh, Yvonne; Anie, Kofi; Mate-Kole, Christopher C; ... Kirkham, Fenella J; + view all Ampomah, Mary A; Drake, Jermon A; Anum, Adote; Amponsah, Benjamin; Dei-Adomakoh, Yvonne; Anie, Kofi; Mate-Kole, Christopher C; Jonassaint, Charles R; Kirkham, Fenella J; - view fewer (2022) A case-control and seven-year longitudinal neurocognitive study of adults with sickle cell disease in Ghana. British Journal of Haematology 10.1111/bjh.18386. (In press).

Anakor, E; Le Gall, L; Dumonceaux, J; Duddy, WJ; Duguez, S; (2021) Exosomes in ageing and motor neurone disease: Biogenesis, uptake mechanisms, modifications in disease and uses in the development of biomarkers and therapeutics. Cells , 10 (11) , Article 2930. 10.3390/cells10112930.

Anakor, Ekene; Milla, Vanessa; Connolly, Owen; Martinat, Cecile; Pradat, Pierre Francois; Dumonceaux, Julie; Duddy, William; Anakor, Ekene; Milla, Vanessa; Connolly, Owen; Martinat, Cecile; Pradat, Pierre Francois; Dumonceaux, Julie; Duddy, William; Duguez, Stephanie; - view fewer (2022) The Neurotoxicity of Vesicles Secreted by ALS Patient Myotubes Is Specific to Exosome-Like and Not Larger Subtypes. Cells , 11 (5) , Article 845. 10.3390/cells11050845.

Andraus, M; Thorpe, J; Tai, XY; Ashby, S; Hallab, A; Ding, D; Dugan, P; ... Sen, A; + view all Andraus, M; Thorpe, J; Tai, XY; Ashby, S; Hallab, A; Ding, D; Dugan, P; Perucca, P; Costello, D; French, JA; O'Brien, TJ; Depondt, C; Andrade, DM; Sengupta, R; Delanty, N; Jette, N; Newton, CR; Brodie, MJ; Devinsky, O; Cross, JH; Li, LM; Silvado, C; Moura, L; Cosenza, H; Messina, JP; Hanna, J; Sander, JW; Sen, A; - view fewer (2021) Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study. Epilepsy & Behavior , 123 , Article 108261. 10.1016/j.yebeh.2021.108261.

Angius, A; Uva, P; Oppo, M; Buers, I; Persico, I; Onano, S; Cuccuru, G; ... Crisponi, L; + view all Angius, A; Uva, P; Oppo, M; Buers, I; Persico, I; Onano, S; Cuccuru, G; Van Allen, MI; Hulait, G; Aubertin, G; Muntoni, F; Fry, AE; Annerén, G; Stattin, E-L; Palomares-Bralo, M; Santos-Simarro, F; Cucca, F; Crisponi, G; Rutsch, F; Crisponi, L; - view fewer (2019) Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Clinical Genetics , 95 (5) pp. 607-614. 10.1111/cge.13532.

Annear, NMP; Appleton, RE; Bassi, Z; Bhatt, R; Bolton, PF; Crawford, P; Crowe, A; ... Kingswood, JC; + view all Annear, NMP; Appleton, RE; Bassi, Z; Bhatt, R; Bolton, PF; Crawford, P; Crowe, A; Tossi, M; Elmslie, F; Finlay, E; Gale, DP; Henderson, A; Jones, EA; Johnson, SR; Joss, S; Kerecuk, L; Lipkin, G; Morrison, PJ; O'Callaghan, FJ; Cadwgan, J; Ong, ACM; Sampson, JR; Shepherd, C; Kingswood, JC; - view fewer (2019) Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Frontiers in Neurology , 10 , Article 1116. 10.3389/fneur.2019.01116.

Anthony, Karen; Ala, Pierpaolo; Catapano, Francesco; Meng, Jinhong; Domingos, Joana; Perry, Mark; Ricotti, Valeria; ... Muntoni, Francesco; + view all Anthony, Karen; Ala, Pierpaolo; Catapano, Francesco; Meng, Jinhong; Domingos, Joana; Perry, Mark; Ricotti, Valeria; Maresh, Kate; Phillips, Lauren; Servais, Laurent; Seferian, Andreea M; De Lucia, Silvana; de Groot, Imelda; Krom, Yvonne; Verschuuren, Jan; Niks, Erik; Straub, Volker; Guglieri, Michela; Voit, Thomas; Morgan, Jennifer; Muntoni, Francesco; - view fewer (2023) T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. Human Gene Therapy , 34 (9-10) pp. 439-448. 10.1089/hum.2022.166.

Anthony, K; Arechavala-Gomeza, V; Ricotti, V; Torelli, S; Feng, L; Janghra, N; Tasca, G; ... Muntoni, F; + view all Anthony, K; Arechavala-Gomeza, V; Ricotti, V; Torelli, S; Feng, L; Janghra, N; Tasca, G; Guglieri, M; Barresi, R; Armaroli, A; Ferlini, A; Bushby, K; Straub, V; Ricci, E; Sewry, C; Morgan, J; Muntoni, F; - view fewer (2014) Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. JAMA Neurology , 71 (1) 32 - 40. 10.1001/jamaneurol.2013.4908.

Anthony, K; Arechavala-Gomeza, V; Taylor, LE; Vulin, A; Kaminoh, Y; Torelli, S; Feng, L; ... Muntoni, F; + view all Anthony, K; Arechavala-Gomeza, V; Taylor, LE; Vulin, A; Kaminoh, Y; Torelli, S; Feng, L; Janghra, N; Bonne, G; Beuvin, M; Barresi, R; Henderson, M; Laval, S; Lourbakos, A; Campion, G; Straub, V; Voit, T; Sewry, CA; Morgan, JE; Flanigan, KM; Muntoni, F; - view fewer (2014) Dystrophin quantification: Biological and translational research implications. Neurology , 83 (22) 2062 - 2069. 10.1212/WNL.0000000000001025.

Apps, J; Hutchinson, C; Shelmerdine, S; Virasami, A; Winter, E; Jacques, T; Martinez-Barbera, J-P; ... Czech, T; + view all Apps, J; Hutchinson, C; Shelmerdine, S; Virasami, A; Winter, E; Jacques, T; Martinez-Barbera, J-P; Arthurs, O; Czech, T; - view fewer (2019) Learning from cases: Analysis of two cases of craniopharyngioma from the 19th to the 21st centuries. [version 1; peer review: 2 approved]. F1000Research , 8 , Article 1544. 10.12688/f1000research.19626.1.

Apps, JR; Hutchinson, JC; Arthurs, OJ; Virasami, A; Joshi, A; Zeller-Plumhoff, B; Moulding, D; ... Martinez-Barbera, JP; + view all Apps, JR; Hutchinson, JC; Arthurs, OJ; Virasami, A; Joshi, A; Zeller-Plumhoff, B; Moulding, D; Jacques, TS; Sebire, NJ; Martinez-Barbera, JP; - view fewer (2016) Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion. Acta Neuropathol Commun , 4 (1) , Article 57. 10.1186/s40478-016-0321-8.

Aquilina, K; Chakrapani, A; Carr, L; Kurian, MA; Hargrave, D; (2022) Convection-Enhanced Delivery in Children: Techniques and Applications. Advances and Technical Standards in Neurosurgery , 45 pp. 199-228. 10.1007/978-3-030-99166-1_6.

Ardicli, D; Sarkozy, A; Zaharieva, I; Deshpande, C; Bodi, I; Siddiqui, A; U-King-Im, JM; ... Muntoni, F; + view all Ardicli, D; Sarkozy, A; Zaharieva, I; Deshpande, C; Bodi, I; Siddiqui, A; U-King-Im, JM; Selfe, A; Phadke, R; Jungbluth, H; Muntoni, F; - view fewer (2019) A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscular Disorders , 29 (6) pp. 448-455. 10.1016/j.nmd.2019.03.011.

Arechavala-Gomeza, V; Anthony, K; Morgan, J; Muntoni, F; (2012) Antisense Oligonucleotide-Mediated Exon Skipping for Duchenne Muscular Dystrophy: Progress and Challenges. Current Gene Therapy , 12 (3) pp. 152-160. 10.2174/156652312800840621.

Arechavala-Gomeza, V; Feng, L; Morgan, JE; Muntoni, F; (2012) Correspondence: Measuring dystrophin-faster is not necessarily better. [Letter]. Nature Reviews Neurology , 8 (8) 469 -470. 10.1038/nrneurol.2012.15-c1.

Arechavala-Gomeza, V; Graham, IR; Popplewell, LJ; Adams, AM; Aartsma-Rus, A; Kinali, M; Morgan, JE; ... Muntoni, F; + view all Arechavala-Gomeza, V; Graham, IR; Popplewell, LJ; Adams, AM; Aartsma-Rus, A; Kinali, M; Morgan, JE; Van Deutekom, JC; Wilton, SD; Dickson, G; Muntoni, F; - view fewer (2007) Comparative analysis of antisense oligonucleotide sequences for targeted skipping of Exon 51 during dystrophin Pre-mRNA splicing in human muscle. Human Gene Therapy , 18 (9) 798 - 810. 10.1089/hum.2006.061.

Arechavala-Gomeza, V; Kinali, M; Feng, L; Brown, SC; Sewry, C; Morgan, JE; Muntoni, F; (2010) Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. NEUROPATH APPL NEURO , 36 (4) 265 - 274. 10.1111/j.1365-2990.2009.01056.x.

Arechavala-Gomeza, V; Kinali, M; Feng, L; Guglieri, M; Edge, G; Main, M; Hunt, D; ... Muntoni, F; + view all Arechavala-Gomeza, V; Kinali, M; Feng, L; Guglieri, M; Edge, G; Main, M; Hunt, D; Lehovsky, J; Straub, V; Bushby, K; Sewry, CA; Morgan, JE; Muntoni, F; - view fewer (2010) Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials. Neuromuscular Disorders , 20 (5) 295 - 301. 10.1016/j.nmd.2010.03.007.

Arfaie, Saman; Amin, Pouya; Kwan, Angela TH; Solgi, Arad; Sarabi, Ali; Hakak-Zargar, Benyamin; Brunette-Clément, Tristan; ... Fallah, Aria; + view all Arfaie, Saman; Amin, Pouya; Kwan, Angela TH; Solgi, Arad; Sarabi, Ali; Hakak-Zargar, Benyamin; Brunette-Clément, Tristan; Pushenko, Denys; Mir-Moghtadaei, Kamran; Mashayekhi, Mohammad Sadegh; Mofatteh, Mohammad; Honarvar, Faraz; Ren, Lily Yuxi; Noiseux-Lush, Camille; Azizi, Zahra; Pearl, Phillip Lawrence; Baldeweg, Torsten; Weil, Alexander G; Fallah, Aria; - view fewer (2023) Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. Seizure , 106 pp. 58-67. 10.1016/j.seizure.2023.01.020.

Argyropoulos, GPD; Watkins, KE; Belton- Pagnamenta, E; Liégeois, FJ; Saleem, KS; Mishkin, M; Vargha-Khadem, F; (2019) Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2. The Cerebellum , 18 pp. 309-319. 10.1007/s12311-018-0989-3.

Arichi, T; Whitehead, K; Barone, G; Pressler, R; Padormo, F; Edwards, AD; Fabrizi, L; (2017) Localization of spontaneous bursting neuronal activity in the preterm human brain with simultaneous EEG-fMRI. eLIFE , 6 , Article e27814. 10.7554/eLife.27814.

Arigliani, Michele; Kirkham, Fenella J; Sahota, Sati; Riley, Mollie; Liguoro, Ilaria; Castriotta, Luigi; Gupta, Atul; ... Aurora, Paul; + view all Arigliani, Michele; Kirkham, Fenella J; Sahota, Sati; Riley, Mollie; Liguoro, Ilaria; Castriotta, Luigi; Gupta, Atul; Rees, David; Inusa, Baba; Aurora, Paul; - view fewer (2022) Lung Clearance Index May Detect Early Peripheral Lung Disease in Sickle Cell Anemia. Annals of the American Thoracic Society , 19 (9) pp. 1507-1515. 10.1513/AnnalsATS.202102-168OC.

Arthur, L; Keen, K; Verriotis, M; Peters, J; Kelly, A; Howard, RF; Dib-Hajj, SD; ... Walker, SM; + view all Arthur, L; Keen, K; Verriotis, M; Peters, J; Kelly, A; Howard, RF; Dib-Hajj, SD; Waxman, SG; Walker, SM; - view fewer (2019) Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. The Journal of Pediatrics , 206 217-224.e9. 10.1016/j.jpeds.2018.10.024.

Arthurs, OJ; Oates, A; Halliday, K; (2021) Paediatric radiology: child abuse imaging in the national spotlight. Clinical Radiology , 76 (9) pp. 631-633. 10.1016/j.crad.2021.07.001.

Arthurs, OJ; van Rijn, RR; Stafrace, S; Rosendahl, K; (2022) Point-of-care ultrasound: reply to Andronikou et al. and Gyorgyi et al. Pediatric Radiology , 52 pp. 610-611. 10.1007/s00247-021-05183-9.

Arthurs, Owen J; Graves, Martin J; Edwards, Andrea D; Joubert, Ilse; Set, Pat AK; Lomas, David J; (2014) Interactive neonatal gastrointestinal magnetic resonance imaging using fruit juice as an oral contrast media. BMC Medical Imaging , 14 , Article 33. 10.1186/1471-2342-14-33.

Arthurs, OJ; Goh, V; Hoggard, N; Booth, T; Messiou, C; Teh, J; Plumb, A; ... Hall-Craggs, M; + view all Arthurs, OJ; Goh, V; Hoggard, N; Booth, T; Messiou, C; Teh, J; Plumb, A; Bidaut, L; Turmezei, T; Jethwa, K; Robinson, P; Hall-Craggs, M; - view fewer (2020) Professional development and research are being neglected: a commentary on the 2019 RCR radiologists' supporting professional activities (SPA) survey. Clinical Radiology , 75 (5) pp. 348-350. 10.1016/j.crad.2020.03.001.

Arthurs, OJ; Hutchinson, JC; Sebire, NJ; (2017) Current issues in postmortem imaging of perinatal and forensic childhood deaths. Forensic Science, Medicine, and Pathology , 13 (1) pp. 58-66. 10.1007/s12024-016-9821-x.

Arthurs, OJ; Price, GC; Carmichael, DW; Jones, R; Norman, W; Taylor, AM; Sebire, NJ; (2015) Diffusion-weighted perinatal postmortem magnetic resonance imaging as a marker of postmortem interval. Eur Radiol , 25 (5) 1399 - 1406. 10.1007/s00330-014-3525-y.

Arthurs, OJ; Taylor, AM; Sebire, NJ; (2015) Indications, advantages and limitations of perinatal postmortem imaging in clinical practice. Pediatric Radiology , 45 (4) pp. 491-500. 10.1007/s00247-014-3165-z.

Arthurs, OJ; Thayyil, S; Olsen, OE; Addison, S; Wade, A; Jones, R; Norman, W; ... Owens, CM; + view all Arthurs, OJ; Thayyil, S; Olsen, OE; Addison, S; Wade, A; Jones, R; Norman, W; Scott, RJ; Robertson, NJ; Taylor, AM; Chitty, LS; Sebire, NJ; Owens, CM; - view fewer (2014) Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children. European Radiology , 24 (11) pp. 2876-2884. 10.1007/s00330-014-3313-8.

Arthurs, OJ; van Rijn, RR; (2015) Paediatric and perinatal postmortem imaging: mortui vivos docent. [Editorial comment]. Pediatric Radiology , 45 (4) 476 - 477. 10.1007/s00247-014-3155-1.

Arthurs, OJ; van Rijn, RR; Taylor, AM; Sebire, NJ; (2015) Paediatric and perinatal postmortem imaging: the need for a subspecialty approach. Pediatric Radiology , 45 (4) 483 - 490. 10.1007/s00247-014-3132-8.

Arzimanoglou, A; Brandl, U; Cross, JH; Gil-Nagel, A; Lagae, L; Landmark, CJ; Specchio, N; ... The Cannabinoids International Experts Panel, .; + view all Arzimanoglou, A; Brandl, U; Cross, JH; Gil-Nagel, A; Lagae, L; Landmark, CJ; Specchio, N; Nabbout, R; Thiele, EA; Gubbay, O; The Cannabinoids International Experts Panel, .; - view fewer (2020) Epilepsy and cannabidiol: a guide to treatment. Epileptic Disorders , 22 (1) pp. 1-14. 10.1684/epd.2020.1141.

Asadi-Pooya, Ali A; Patel, Archana A; Trinka, Eugen; Mazurkiewicz-Beldzinska, Maria; Cross, J Helen; Welty, Timothy E; (2022) Recommendations for treatment strategies in people with epilepsy during times of shortage of antiseizure medications. Epileptic Disorders , 24 (5) 10.1684/epd.2022.1468. (In press).

Asadi-Pooya, AA; Cross, JH; (2020) Is wearing a face mask safe for people with epilepsy? Acta Neurologica Scandinavica , 142 (4) pp. 314-316. 10.1111/ane.13316.

Assaf, Yaniv; Alexander, Daniel C; Jones, Derek K; Bizzi, Albero; Behrens, Tim EJ; Clark, Chris A; Cohen, Yoram; ... CONNECT consortium; + view all Assaf, Yaniv; Alexander, Daniel C; Jones, Derek K; Bizzi, Albero; Behrens, Tim EJ; Clark, Chris A; Cohen, Yoram; Dyrby, Tim B; Huppi, Petra S; Knoesche, Thomas R; LeBihan, Denis; Parker, Geoff JM; Poupon, Cyril; CONNECT consortium; - view fewer (2013) The CONNECT project: Combining macro- and micro-structure. NeuroImage , 80 pp. 273-282. 10.1016/j.neuroimage.2013.05.055.

Astrea, G; Romano, A; Angelini, C; Antozzi, CG; Barresi, R; Battini, R; Battisti, C; ... Santorelli, FM; + view all Astrea, G; Romano, A; Angelini, C; Antozzi, CG; Barresi, R; Battini, R; Battisti, C; Bertini, E; Bruno, C; Cassandrini, D; Fanin, M; Fattori, F; Fiorillo, C; Guerrini, R; Maggi, L; Mercuri, E; Morani, F; Mora, M; Moro, F; Pezzini, I; Picillo, E; Pinelli, M; Politano, L; Rubegni, A; Sanseverino, W; Savarese, M; Striano, P; Torella, A; Trevisan, CP; Trovato, R; Zaraieva, I; Muntoni, F; Nigro, V; D'Amico, A; Santorelli, FM; - view fewer (2018) Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet Journal of Rare Diseases , 13 , Article 170. 10.1186/s13023-018-0863-x.

Aughwane, R; Schaaf, C; Hutchinson, JC; Virasami, A; Zuluaga, MA; Sebire, N; Arthurs, OJ; ... David, AL; + view all Aughwane, R; Schaaf, C; Hutchinson, JC; Virasami, A; Zuluaga, MA; Sebire, N; Arthurs, OJ; Vercauteren, T; Ourselin, S; Melbourne, A; David, AL; - view fewer (2019) Micro-CT and histological investigation of the spatial pattern of feto-placental vascular density. Placenta 10.1016/j.placenta.2019.09.014. (In press).

Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; ... Williams, R; + view all Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; Walker, M; Williams, R; - view fewer (2018) Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders. The Lancet Neurology , 17 (1) pp. 84-93. 10.1016/S1474-4422(17)30408-8.

Austin, Joan K; Birbeck, Gretchen; Parko, Karen; Kwon, Churl-Su; Fernandes, Paula T; Braga, Patricia; Fiest, Kirsten M; ... Jette, Nathalie; + view all Austin, Joan K; Birbeck, Gretchen; Parko, Karen; Kwon, Churl-Su; Fernandes, Paula T; Braga, Patricia; Fiest, Kirsten M; Ali, Amza; Cross, J Helen; de Boer, Hanneke; Dua, Tarun; Haut, Sheryl R; Jacoby, Ann; Lorenzetti, Diane L; Mifsud, Janet; Moshé, Solomon L; Tripathi, Manjari; Wiebe, Samuel; Jette, Nathalie; - view fewer (2022) Epilepsy-related stigma and attitudes: Systematic review of screening instruments and interventions - Report by the International League Against Epilepsy Task Force on Stigma in Epilepsy. Epilepsia , 63 (3) pp. 598-628. 10.1111/epi.17133.

Auvin, S; Avbersek, A; Bast, T; Chiron, C; Guerrini, R; Kaminski, RM; Lagae, L; ... Cross, JH; + view all Auvin, S; Avbersek, A; Bast, T; Chiron, C; Guerrini, R; Kaminski, RM; Lagae, L; Muglia, P; Cross, JH; - view fewer (2019) Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. Drugs , 79 (18) pp. 1917-1935. 10.1007/s40265-019-01223-9.

Auvin, S; Wirrell, E; Donald, KA; Berl, M; Hartmann, H; Valente, KD; Van Bogaert, P; ... Wilmshurst, JM; + view all Auvin, S; Wirrell, E; Donald, KA; Berl, M; Hartmann, H; Valente, KD; Van Bogaert, P; Cross, JH; Osawa, M; Kanemura, H; Aihara, M; Guerreiro, MM; Samia, P; Vinayan, KP; Smith, ML; Carmant, L; Kerr, M; Hermann, B; Dunn, D; Wilmshurst, JM; - view fewer (2018) Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission. Epilepsia , 59 (10) pp. 1867-1880. 10.1111/epi.14549.

Ayala Soriano, S; (2016) Characterisation of the optic radiations in children in health and disease. Doctoral thesis , UCL (University College London).

Aylmore, Holly; Young, Fiona; Aquilina, Kristian; Clark, Chris A; Clayden, Jonathan D; (2025) The use of intraoperative tractography in brain tumor and epilepsy surgery: a systematic review and meta-analysis. Frontiers in Neuroimaging , 4 , Article 1563996. 10.3389/fnimg.2025.1563996.

Ayoub, LJ; Zhu, J; Lee, SJ; Mugisha, N; Patel, K; Duerden, EG; Stinson, J; ... McAndrews, MP; + view all Ayoub, LJ; Zhu, J; Lee, SJ; Mugisha, N; Patel, K; Duerden, EG; Stinson, J; Verriotis, M; Noel, M; Kong, D; Moayedi, M; McAndrews, MP; - view fewer (2023) Age-related effects on the anterior and posterior hippocampal volumes in 6–21 year olds: A model selection approach. Hippocampus , 33 (1) pp. 37-46. 10.1002/hipo.23487.

Ayyar Gupta, Vandana; Pitchforth, Jacqueline M; Domingos, Joana; Ridout, Deborah; Iodice, Mario; Rye, Catherine; Chesshyre, Mary; ... iMDEX Consortium and the U.K. NorthStar Clinical Network; + view all Ayyar Gupta, Vandana; Pitchforth, Jacqueline M; Domingos, Joana; Ridout, Deborah; Iodice, Mario; Rye, Catherine; Chesshyre, Mary; Wolfe, Amy; Selby, Victoria; Mayhew, Anna; Mazzone, Elena S; Ricotti, Valeria; Hogrel, Jean-Yves; Niks, Erik H; de Groot, Imelda; Servais, Laurent; Straub, Volker; Mercuri, Eugenio; Manzur, Adnan Y; Muntoni, Francesco; iMDEX Consortium and the U.K. NorthStar Clinical Network; - view fewer (2023) Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS One , 18 (4) , Article e0283669. 10.1371/journal.pone.0283669.

B

Babiker, Mohamed OE; Kurian, Manju A; Suleiman, Jehan; (2022) Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency. Frontiers in Pediatrics , 10 , Article 964201. 10.3389/fped.2022.964201.

Bachmann, C; Jungbluth, H; Muntoni, F; Manzur, AY; Zorzato, F; Treves, S; (2017) Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Human Molecular Genetics , 26 (2) pp. 320-332. 10.1093/hmg/ddw388.

Bachmann, C; Noreen, F; Voermans, NC; Schar, PL; Vissing, J; Fock, JM; Bulk, S; ... Treves, S; + view all Bachmann, C; Noreen, F; Voermans, NC; Schar, PL; Vissing, J; Fock, JM; Bulk, S; Kusters, B; Moore, SA; Beggs, AH; Matthews, KD; Meyer, M; Genetti, CA; Meola, G; Cardani, R; Matthews, E; Jungluth, H; Muntoni, F; Zorzato, F; Treves, S; - view fewer (2019) Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human Mutation , 40 (7) pp. 962-974. 10.1002/humu.23745.

Bakalis, S; (2016) Prediction Of Small-For-Gestational-Age Neonates At 30-34 Weeks' Gestation. Doctoral thesis (PhD), UCL (University College London).

Baker, K; Gordon, SL; Melland, H; Bumbak, F; Scott, DJ; Jiang, TJ; Owen, D; ... Raymond, FL; + view all Baker, K; Gordon, SL; Melland, H; Bumbak, F; Scott, DJ; Jiang, TJ; Owen, D; Turner, BJ; Boyd, SG; Rossi, M; Al-Raqad, M; Elpeleg, O; Peck, D; Mancini, GMS; Wilke, M; Zollino, M; Marangi, G; Weigand, H; Borggraefe, I; Haack, T; Stark, Z; Sadedin, S; Broad Center for Mendelian Genomics, .; Tan, TY; Jiang, Y; Gibbs, RA; Ellingwood, S; Amaral, M; Kelley, W; Kurian, MA; Cousin, MA; Raymond, FL; - view fewer (2018) SYT1-associated neurodevelopmental disorder: a case series. Brain , 141 (9) pp. 2576-2591. 10.1093/brain/awy209.

Baldassari, S; Picard, F; Verbeek, NE; van Kempen, M; Brilstra, EH; Lesca, G; Conti, V; ... Baulac, S; + view all Baldassari, S; Picard, F; Verbeek, NE; van Kempen, M; Brilstra, EH; Lesca, G; Conti, V; Guerrini, R; Bisulli, F; Licchetta, L; Pippucci, T; Tinuper, P; Hirsch, E; de Saint Martin, A; Chelly, J; Rudolf, G; Chipaux, M; Ferrand-Sorbets, S; Dorfmüller, G; Sisodiya, S; Balestrini, S; Schoeler, N; Hernandez-Hernandez, L; Krithika, S; Oegema, R; Hagebeuk, E; Gunning, B; Deckers, C; Berghuis, B; Wegner, I; Niks, E; Jansen, FE; Braun, K; de Jong, D; Rubboli, G; Talvik, I; Sander, V; Uldall, P; Jacquemont, M-L; Nava, C; Leguern, E; Julia, S; Gambardella, A; d'Orsi, G; Crichiutti, G; Faivre, L; Darmency, V; Benova, B; Krsek, P; Biraben, A; Lebre, A-S; Jennesson, M; Sattar, S; Marchal, C; Nordli, DR; Lindstrom, K; Striano, P; Lomax, LB; Kiss, C; Bartolomei, F; Lepine, AF; Schoonjans, A-S; Stouffs, K; Jansen, A; Panagiotakaki, E; Ricard-Mousnier, B; Thevenon, J; de Bellescize, J; Catenoix, H; Dorn, T; Zenker, M; Müller-Schlüter, K; Brandt, C; Krey, I; Polster, T; Wolff, M; Balci, M; Rostasy, K; Achaz, G; Zacher, P; Becher, T; Cloppenborg, T; Yuskaitis, CJ; Weckhuysen, S; Poduri, A; Lemke, JR; Møller, RS; Baulac, S; Baulac, S; - view fewer (2018) The landscape of epilepsy-related GATOR1 variants. Genetics in Medicine 10.1038/s41436-018-0060-2. (In press).

Baldeweg, T; Cormack, F; Vargha-Khadem, F; Skirrow, C; Cross, H; Harrison, S; Harkness, W; ... Gaiottino, J; + view all Baldeweg, T; Cormack, F; Vargha-Khadem, F; Skirrow, C; Cross, H; Harrison, S; Harkness, W; Coleman, R; Gaiottino, J; - view fewer (2015) Temporal lobe surgery in childhood and neuroanatomical predictors of longterm declarative memory outcome. Brain , 138 (1) pp. 80-93. 10.1093/brain/awu313.

Baldeweg, T; Hirsch, SR; (2015) Mismatch negativity indexes illness-specific impairments of cortical plasticity in schizophrenia: a comparison with bipolar disorder and Alzheimer's disease. Int J Psychophysiol , 95 (2) 145 - 155. 10.1016/j.ijpsycho.2014.03.008.

Balestrini, S; Koepp, MJ; Gandhi, S; Rickman, HM; Yen Shin, G; Houlihan, CF; Anders-Cannon, J; ... Sisodiya, SM; + view all Balestrini, S; Koepp, MJ; Gandhi, S; Rickman, HM; Yen Shin, G; Houlihan, CF; Anders-Cannon, J; Silvennoinen, K; Xiao, F; Zagaglia, S; Hudgell, K; Ziomek, M; Haimes, P; Sampson, A; Parker, A; Helen Cross, J; Pardington, R; Nastouli, E; Swanton, C; Sander, JW; Sisodiya, SM; - view fewer (2021) Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy. Epilepsy & Behavior , 115 , Article 107602. 10.1016/j.yebeh.2020.107602.

Balestrini, S; Mikati, MA; Garcia-Roves, RA; Carboni, M; Hunanyan, AS; Kherallah, B; McLean, M; ... Sisodiya, SM; + view all Balestrini, S; Mikati, MA; Garcia-Roves, RA; Carboni, M; Hunanyan, AS; Kherallah, B; McLean, M; Prange, L; De Grandis, E; Gagliardi, A; Pisciotta, L; Stagnaro, M; Veneselli, E; Campistol, J; Fons, C; Pias-Peleteiro, L; Brashear, A; Miller, C; Samoes, R; Brankovic, V; Padiath, QS; Potic, A; Pilch, J; Vezyroglou, K; Bye, AME; Davis, AM; Ryan, MM; Semsarian, C; Hollingsworth, G; Scheffer, IE; Granata, T; Nardocci, N; Ragona, F; Arzimanoglou, A; Panagiotakaki, E; Carrilho, I; Zucca, C; Novy, J; Dzieżyc, K; Parowicz, M; Mazurkiewicz-Bełdzińska, M; Weckhuysen, S; Pons, R; Groppa, S; Sinden, DS; Pitt, GS; Tinker, A; Ashworth, M; Michalak, Z; Thom, M; Cross, JH; Vavassori, R; Kaski, JP; Sisodiya, SM; - view fewer (2020) Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study. Neurology , 95 (21) e2866-e2879. 10.1212/wnl.0000000000010794.

Balestrini, S; Chiarello, D; Gogou, M; Silvennoinen, K; Puvirajasinghe, C; Jones, WD; Reif, P; ... Sisodiya, SM; + view all Balestrini, S; Chiarello, D; Gogou, M; Silvennoinen, K; Puvirajasinghe, C; Jones, WD; Reif, P; Klein, KM; Rosenow, F; Weber, YG; Lerche, H; Schubert-Bast, S; Borggraefe, I; Coppola, A; Troisi, S; Møller, RS; Riva, A; Striano, P; Zara, F; Hemingway, C; Marini, C; Rosati, A; Mei, D; Montomoli, M; Guerrini, R; Cross, JH; Sisodiya, SM; - view fewer (2021) Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2020-325932. (In press).

Balestrini, S; Milh, M; Castiglioni, C; Lüthy, K; Finelli, MJ; Verstreken, P; Cardon, A; ... Sisodiya, SM; + view all Balestrini, S; Milh, M; Castiglioni, C; Lüthy, K; Finelli, MJ; Verstreken, P; Cardon, A; Stražišar, BG; Holder, JL; Lesca, G; Mancardi, MM; Poulat, AL; Repetto, GM; Banka, S; Bilo, L; Birkeland, LE; Bosch, F; Brockmann, K; Cross, JH; Doummar, D; Félix, TM; Giuliano, F; Hori, M; Hüning, I; Kayserili, H; Kini, U; Lees, MM; Meenakshi, G; Mewasingh, L; Pagnamenta, AT; Peluso, S; Mey, A; Rice, GM; Rosenfeld, JA; Taylor, JC; Troester, MM; Stanley, CM; Ville, D; Walkiewicz, M; Falace, A; Fassio, A; Lemke, JR; Biskup, S; Tardif, J; Ajeawung, NF; Tolun, A; Corbett, M; Gecz, J; Afawi, Z; Howell, KB; Oliver, KL; Berkovic, SF; Scheffer, IE; de Falco, FA; Oliver, PL; Striano, P; Zara, F; Campeau, PM; Sisodiya, SM; - view fewer (2016) TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology , 87 (1) pp. 77-85. 10.1212/WNL.0000000000002807.

Bali, A; Cross, H; Lakhanpaul, M; Hargreaves, D; Cowman, J; Power, M; Dunkley, C; (2016) Integrated care for childhood epilepsy: ongoing challenges and lessons for other long-term conditions. Archives of Disease in Childhood , 101 pp. 1057-1062. 10.1136/archdischild-2015-309794.

Bandyopadhyay, S; Khan, DZ; Marcus, HJ; Schroeder, BE; Patel, V; O’Donnell, A; Ahmed, S; ... Youssef, M; + view all Bandyopadhyay, S; Khan, DZ; Marcus, HJ; Schroeder, BE; Patel, V; O’Donnell, A; Ahmed, S; Alalade, AF; Ali, AMS; Allison, C; Al-Barazi, S; Al-Mahfoudh, R; Amarouche, M; Bahl, A; Bennett, D; Bhalla, R; Bhatt, P; Boukas, A; Cabrilo, I; Chadwick, A; Chowdhury, YA; Choi, D; Cudlip, SA; Donnelly, N; Dorward, NL; Dow, G; Fountain, DM; Grieve, J; Giamouriadis, A; Gilkes, C; Gnanalingham, K; Halliday, J; Hanna, B; Hayhurst, C; Hempenstall, J; Henderson, D; Hossain-Ibrahim, K; Hirst, T; Hughes, M; Javadpour, M; Jenkins, A; Kamel, M; Mannion, RJ; Kolias, AG; Khan, H; Khan, MS; Lacy, P; Mahmood, S; Maratos, E; Martin, A; Mathad, N; McAleavey, P; Mendoza, N; Millward, CP; Mirza, S; Muquit, S; Murray, D; Naik, PP; Nair, R; Nicholson, C; Paluzzi, A; Pathmanaban, O; Paraskevopoulos, D; Pollock, J; Phillips, N; Piper, RJ; Ram, B; Robertson, I; Roman, E; Ross, P; Santarius, T; Sayal, P; Shapey, J; Sharma, R; Shaw, S; Shoakazemi, A; Sinha, S; Solomou, G; Stapleton, S; Statham, P; Stew, B; Shumon, S; Soon, WC; Thomas, N; Tsermoulas, G; Tysome, JR; Varma, A; Weir, P; Williams, A; Youssef, M; - view fewer (2021) CSF Rhinorrhea After Endonasal Intervention to the Skull Base (CRANIAL) — Part 2: Impact of COVID-19. World Neurosurgery , 149 e1090-e1097. 10.1016/j.wneu.2020.12.169.

Banerjee, I; Powis, S; Shevlin, M; Barnes, J; Soo, A; Sutcliffe, AG; (2010) Health outcomes of children born to mothers with chronic kidney disease: a pilot study. Pediatric Reports , 2 (1) , Article e7. 10.4081/pr.2010.e7.

Bangash, MA; Alles, SRA; Santana-Varela, S; Millet, Q; Sikandar, S; de Clauser, L; Ter Heegde, F; ... Wood, JN; + view all Bangash, MA; Alles, SRA; Santana-Varela, S; Millet, Q; Sikandar, S; de Clauser, L; Ter Heegde, F; Habib, AM; Pereira, V; Sexton, JE; Emery, EC; Li, S; Luiz, AP; Erdos, J; Gossage, SJ; Zhao, J; Cox, JJ; Wood, JN; - view fewer (2018) Distinct transcriptional responses of mouse sensory neurons in models of human chronic pain conditions. Wellcome Open Research , 3 , Article 78. 10.12688/wellcomeopenres.14641.1.

Baple, EL; Maroofian, R; Chioza, BA; Izadi, M; Cross, HE; Al-Turki, S; Barwick, K; ... Crosby, AH; + view all Baple, EL; Maroofian, R; Chioza, BA; Izadi, M; Cross, HE; Al-Turki, S; Barwick, K; Skrzypiec, A; Pawlak, R; Wagner, K; Coblentz, R; Zainy, T; Patton, MA; Mansour, S; Rich, P; Qualmann, B; Hurles, ME; Kessels, MM; Crosby, AH; - view fewer (2014) Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures. The American Journal of Human Genetics , 94 (1) pp. 87-94. 10.1016/j.ajhg.2013.10.001.

Bara, VB; Schoeler, N; Carroll, JH; Simpson, Z; Cameron, T; (2023) Patient and carer perspectives on the use of video consultations in the management of the ketogenic diet for epilepsy. Epilepsy and Behavior , 145 , Article 109280. 10.1016/j.yebeh.2023.109280.

Baranello, G; Gorni, K; Daigl, M; Kotzeva, A; Evans, R; Hawkins, N; Scott, DA; ... Servais, L; + view all Baranello, G; Gorni, K; Daigl, M; Kotzeva, A; Evans, R; Hawkins, N; Scott, DA; Mahajan, A; Muntoni, F; Servais, L; - view fewer (2021) Prognostic factors and treatment-effect modifiers in spinal muscular atrophy. Clinical Pharmacology and Therapeutics 10.1002/cpt.2247. (In press).

Baranello, G; Darras, BT; Day, JW; Deconinck, N; Klein, A; Masson, R; Mercuri, E; ... FIREFISH Working Group; + view all Baranello, G; Darras, BT; Day, JW; Deconinck, N; Klein, A; Masson, R; Mercuri, E; Rose, K; El-Khairi, M; Gerber, M; Gorni, K; Khwaja, O; Kletzl, H; Scalco, RS; Seabrook, T; Fontoura, P; Servais, L; FIREFISH Working Group; - view fewer (2021) Risdiplam in Type 1 Spinal Muscular Atrophy. New England Journal of Medicine , 384 (10) pp. 915-923. 10.1056/NEJMoa2009965.

Baranello, G; De Amicis, R; Arnoldi, MT; Zanin, R; Mastella, C; Masson, R; Leone, A; ... Bertoli, S; + view all Baranello, G; De Amicis, R; Arnoldi, MT; Zanin, R; Mastella, C; Masson, R; Leone, A; Alberti, K; Foppiani, A; Battezzati, A; Bertoli, S; - view fewer (2020) Evaluation of body composition as a potential biomarker in spinal muscular atrophy. Muscle & Nerve 10.1002/mus.26823. (In press).

Baranello, G; Signorini, S; Tinelli, F; Guzzetta, A; Pagliano, E; Rossi, A; Foscan, M; ... On Behalf of the VFCS Study Group, .; + view all Baranello, G; Signorini, S; Tinelli, F; Guzzetta, A; Pagliano, E; Rossi, A; Foscan, M; Tramacere, I; Romeo, DMM; Ricci, D; On Behalf of the VFCS Study Group, .; - view fewer (2020) Visual Function Classification System for children with cerebral palsy: development and validation. Developmental Medicine and Child Neurology , 62 (1) pp. 104-110. 10.1111/dmcn.14270.

Baranello, G; Vai, S; Broggi, F; Masson, R; Arnoldi, MT; Zanin, R; Mastella, C; Baranello, G; Vai, S; Broggi, F; Masson, R; Arnoldi, MT; Zanin, R; Mastella, C; Bianchi, ML; - view fewer (2019) Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3. Neuromuscular Disorders , 29 (7) pp. 525-532. 10.1016/j.nmd.2019.06.001.

Barba, C; Cross, JH; Braun, K; Cossu, M; Klotz, KA; De Masi, S; Perez Jimenez, MA; ... Lucenteforte, E; + view all Barba, C; Cross, JH; Braun, K; Cossu, M; Klotz, KA; De Masi, S; Perez Jimenez, MA; Gaily, E; Specchio, N; Cabral, P; Toulouse, J; Dimova, P; Battaglia, D; Freri, E; Consales, A; Cesaroni, E; Tarta-Arsene, O; Gil-Nagel, A; Mindruta, I; Di Gennaro, G; Giulioni, M; Tisdall, MM; Eltze, C; Tahir, MZ; Jansen, F; van Rijen, P; Sanders, M; Tassi, L; Francione, S; Lo Russo, G; Jacobs, J; Bast, T; Matta, G; Budke, M; Fournier del Castillo, C; Metsahonkala, E-L; Karppinen, A; Ferreira, JC; Minkin, K; Marras, CE; Arzimanoglou, A; Guerrini, R; Jacques, T; Varadkar, S; Colon, A; D'Orio, P; Pelliccia, V; Schulze-Bonhage, A; Syrbe, S; Buccoliero, A; Giordano, F; Garcia-Fernandez, M; Villarejo, F; De Palma, L; Pavia, GC; Canas, NM; Santos, A; Montavont, A; Ostrowsky-Coste, K; Gabrovski, K; Stoyanova, D; Tamburrini, G; Granata, T; Pacetti, M; Matricardi, S; Craiu, D; Aledo, A; Popa, I; Esposito, V; Lucenteforte, E; - view fewer (2020) Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation. Epilepsia , 61 (2) pp. 216-227. 10.1111/epi.16414.

Barber, JL; Sebire, NJ; Chitty, LS; Taylor, AM; Arthurs, OJ; (2015) Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth. Int J Legal Med , 129 (3) 531 - 536. 10.1007/s00414-014-1125-7.

Bardol, Maddlie; Pan, Shan; Walker, Suellen; Standing, Joseph; Dawes, Joy; (2023) Pharmacokinetic pharmacodynamic modeling of analgesics and sedatives in children. Paediatric Anaesthesia , 33 (10) pp. 781-792. 10.1111/pan.14712.

Barona, M; Brown, M; Clark, C; Frangou, S; White, T; Micali, N; (2019) White matter alterations in anorexia nervosa: Evidence from a voxel-based meta-analysis. Neuroscience & Biobehavioral Reviews , 100 pp. 285-295. 10.1016/j.neubiorev.2019.03.002.

Barral, Serena; Xiang, Yangfei; Birey, Fikri; (2022) Improving in vitro modeling of human brain with future brain organoids. Frontiers in Molecular Neuroscience , 15 , Article 997119. 10.3389/fnmol.2022.997119.

Barral, S; Kurian, MA; (2016) Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders. Frontiers in Molecular Neuroscience , 9 (ARTN 78) 10.3389/fnmol.2016.00078.

Barras, CD; Asadi, H; Baldeweg, T; Mancini, L; Yousry, TA; Bisdas, S; (2016) Functional magnetic resonance imaging in clinical practice: State of the art and science. Australian Family Physician , 45 (11) pp. 798-803.

Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; ... Mills, P; + view all Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; Footitt, E; Waddington, SN; Gissen, P; Mills, P; - view fewer (2019) Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites , 9 (11) , Article 275. 10.3390/metabo9110275.

Barwick, KES; Wright, J; Al-Turki, S; McEntagart, MM; Nair, A; Chioza, B; Al-Memar, A; ... Crosby, AH; + view all Barwick, KES; Wright, J; Al-Turki, S; McEntagart, MM; Nair, A; Chioza, B; Al-Memar, A; Modarres, H; Reilly, MM; Dick, KJ; Ruggiero, AM; Blakely, RD; Hurles, ME; Crosby, AH; - view fewer (2012) Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy. AMERICAN JOURNAL OF HUMAN GENETICS , 91 (6) 1103 - 1107. 10.1016/j.ajhg.2012.09.019.

Bathelt, J; Dale, N; de Haan, M; (2017) Event-related potential response to auditory social stimuli, parent-reported social communicative deficits and autism risk in school-aged children with congenital visual impairment. Developmental Cognitive Neuroscience , 27 pp. 10-18. 10.1016/j.dcn.2017.07.003.

Bathelt, J; Dale, NJ; de Haan, M; Clark, CA; (2019) Brain structure in children with congenital visual disorders and visual impairment. Developmental Medicine and Child Neurology 10.1111/dmcn.14322. (In press).

Bathelt, J; de Haan, M; Dale, NJ; (2019) Adaptive behaviour and quality of life in school-age children with congenital visual disorders and different levels of visual impairment. Research in Developmental Disabilities , 85 pp. 154-162. 10.1016/j.ridd.2018.12.003.

Bathelt, J; De Haan, M; Salt, A; Dale, NJ; (2016) Executive abilities in children with congenital visual impairment in mid-childhood. Child Neuropsychology , 24 (2) pp. 184-202. 10.1080/09297049.2016.1240158.

Batllori, M; Molero-Luis, M; Ormazabal, A; Casado, M; Sierra, C; Garcia-Cazorla, A; Kurian, M; ... Artuch, R; + view all Batllori, M; Molero-Luis, M; Ormazabal, A; Casado, M; Sierra, C; Garcia-Cazorla, A; Kurian, M; Pope, S; Heales, SJ; Artuch, R; - view fewer (2017) Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC. Nature Protocols , 12 (11) pp. 2359-2375. 10.1038/nprot.2017.103.

Baud, MO; Perneger, T; Rácz, A; Pensel, MC; Elger, C; Rydenhag, B; Malmgren, K; ... Seeck, M; + view all Baud, MO; Perneger, T; Rácz, A; Pensel, MC; Elger, C; Rydenhag, B; Malmgren, K; Cross, JH; McKenna, G; Tisdall, M; Lamberink, HJ; Rheims, S; Ryvlin, P; Isnard, J; Mauguière, F; Arzimanoglou, A; Akkol, S; Deniz, K; Ozkara, C; Lossius, M; Rektor, I; Kälviäinen, R; Vanhatalo, L-M; Dimova, P; Minkin, K; Staack, AM; Steinhoff, BJ; Kalina, A; Krsek, P; Marusic, P; Jordan, Z; Fabo, D; Carrette, E; Boon, P; Rocka, S; Mameniškienė, R; Vulliemoz, S; Pittau, F; Braun, KPJ; Seeck, M; - view fewer (2018) European trends in epilepsy surgery. Neurology , 91 (2) E96-E106. 10.1212/WNL.0000000000005776.

Baumgartner, T; Carreño, M; Rocamora, R; Bisulli, F; Boni, A; Brázdil, M; Horak, O; ... Sadowski, K; + view all Baumgartner, T; Carreño, M; Rocamora, R; Bisulli, F; Boni, A; Brázdil, M; Horak, O; Craiu, D; Pereira, C; Guerrini, R; San Antonio-Arce, V; Schulze-Bonhage, A; Zuberi, SM; Hallböök, T; Kalviainen, R; Lagae, L; Nguyen, S; Quintas, S; Franco, A; Cross, JH; Walker, M; Arzimanoglou, A; Rheims, S; Granata, T; Canafoglia, L; Johannessen Landmark, C; Sen, A; Rattihalli, R; Nabbout, R; Tartara, E; Santos, M; Rangel, R; Krsek, P; Marusic, P; Specchio, N; Braun, KPJ; Smeyers, P; Villanueva, V; Kotulska, K; Surges, R; Tinuper, P; Licchetta, L; Michelucci, R; Toulouse, J; Panagiotakaki, E; Ostrowsky-Coste, K; Lesca, G; de Curtis, M; Elisak, M; Domańska-Pakiea, D; Sadowski, K; - view fewer (2020) A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies. Epilepsia Open 10.1002/epi4.12459. (In press).

Beclin, C; Follert, P; Stappers, E; Barral, S; Nathalie, C; de Chevigny, A; Magnone, V; ... Cremer, H; + view all Beclin, C; Follert, P; Stappers, E; Barral, S; Nathalie, C; de Chevigny, A; Magnone, V; Lebrigand, K; Bissels, U; Huylebroeck, D; Bosio, A; Barbry, P; Seuntjens, E; Cremer, H; - view fewer (2016) miR-200 family controls late steps of postnatal forebrain neurogenesis via Zeb2 inhibition. SCIENTIFIC REPORTS , 6 , Article 357. 10.1038/srep35729.

Beecham, E; Candy, B; Howard, R; McCulloch, R; Laddie, J; Rees, H; Vickerstaff, V; ... Jones, L; + view all Beecham, E; Candy, B; Howard, R; McCulloch, R; Laddie, J; Rees, H; Vickerstaff, V; Bluebond-Langner, M; Jones, L; - view fewer (2015) Pharmacological interventions for pain in children and adolescents with life-limiting conditions. Cochrane Database of Systematic Reviews , 3 , Article CD010750. 10.1002/14651858.CD010750.pub2.

Beggs, S; Alvares, D; Moss, A; Currie, G; Middleton, J; Salter, MW; Fitzgerald, M; (2012) A role for NT-3 in the hyperinnervation of neonatally wounded skin. PAIN , 153 (10) 2133 - 2139. 10.1016/j.pain.2012.07.012.

Behr, ER; Ritchie, MD; Tanaka, T; Kääb, S; Crawford, DC; Nicoletti, P; Floratos, A; ... Roden, DM; + view all Behr, ER; Ritchie, MD; Tanaka, T; Kääb, S; Crawford, DC; Nicoletti, P; Floratos, A; Sinner, MF; Kannankeril, PJ; Wilde, AA; Bezzina, CR; Schulze-Bahr, E; Zumhagen, S; Guicheney, P; Bishopric, NH; Marshall, V; Shakir, S; Dalageorgou, C; Bevan, S; Jamshidi, Y; Bastiaenen, R; Myerburg, RJ; Schott, JJ; Camm, AJ; Steinbeck, G; Norris, K; Altman, RB; Tatonetti, NP; Jeffery, S; Kubo, M; Nakamura, Y; Shen, Y; George, AL; Roden, DM; - view fewer (2013) Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes. PLoS One , 8 (11) , Article e78511. 10.1371/journal.pone.0078511.

Behrndt, Laken; Gregory, Allison; Wakeman, Katrina; Freed, Alison; Wilson, Jenny L; Spaull, Robert; Kurian, Manju A; ... Yang, Scott; + view all Behrndt, Laken; Gregory, Allison; Wakeman, Katrina; Freed, Alison; Wilson, Jenny L; Spaull, Robert; Kurian, Manju A; Mordekar, Santosh; Fernandes, James A; Hayflick, Susan J; Hogarth, Penelope; Yang, Scott; - view fewer (2024) Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management. Journal of Pediatric Orthopaedics , 44 (1) e61-e68. 10.1097/BPO.0000000000002555.

Bell, Rachel MB; Villalobos, Elisa; Nixon, Mark; Miguelez-Crespo, Allende; Murphy, Lee; Fawkes, Angie; Coutts, Audrey; ... Morgan, Ruth A; + view all Bell, Rachel MB; Villalobos, Elisa; Nixon, Mark; Miguelez-Crespo, Allende; Murphy, Lee; Fawkes, Angie; Coutts, Audrey; Sharp, Matthew GF; Koerner, Martha; Allan, Emma; Meijer, Onno C; Houtman, Rene; Odermatt, Alex; Beck, Katharina R; Denham, Scott G; Lee, Patricia; Homer, Natalie ZM; Walker, Brian R; Morgan, Ruth A; - view fewer (2021) Carbonyl reductase 1 amplifies glucocorticoid action in adipose tissue and impairs glucose tolerance in lean mice. Molecular Metabolism , 48 , Article 101225. 10.1016/j.molmet.2021.101225.

Bello, L; D'Angelo, G; Villa, M; Fusto, A; Vianello, S; Merlo, B; Sabbatini, D; ... Pegoraro, E; + view all Bello, L; D'Angelo, G; Villa, M; Fusto, A; Vianello, S; Merlo, B; Sabbatini, D; Barp, A; Gandossini, S; Magri, F; Comi, GP; Pedemonte, M; Tacchetti, P; Lanzillotta, V; Trucco, F; D'Amico, A; Bertini, E; Astrea, G; Politano, L; Masson, R; Baranello, G; Albamonte, E; De Mattia, E; Rao, F; Sansone, VA; Previtali, S; Messina, S; Vita, GL; Berardinelli, A; Mongini, T; Pini, A; Pane, M; Mercuri, E; Vianello, A; Bruno, C; Hoffman, EP; Morgenroth, L; Gordish-Dressman, H; McDonald, CM; CINRG-DNHS Investigators; Pegoraro, E; - view fewer (2020) Genetic modifiers of respiratory function in Duchenne muscular dystrophy. Annals of Clinical and Translational Neurology , 7 (5) pp. 786-798. 10.1002/acn3.51046.

Ben Yaou, R; Yun, P; Dabaj, I; Norato, G; Donkervoort, S; Xiong, H; Nascimento, A; ... Bonne, G; + view all Ben Yaou, R; Yun, P; Dabaj, I; Norato, G; Donkervoort, S; Xiong, H; Nascimento, A; Maggi, L; Sarkozy, A; Monges, S; Bertoli, M; Komaki, H; Mayer, M; Mercuri, E; Zanoteli, E; Castiglioni, C; Marini-Bettolo, C; D'Amico, A; Deconinck, N; Desguerre, I; Erazo-Torricelli, R; Gurgel-Giannetti, J; Ishiyama, A; Kleinsteuber, KS; Lagrue, E; Laugel, V; Mercier, S; Messina, S; Politano, L; Ryan, MM; Sabouraud, P; Schara, U; Siciliano, G; Vercelli, L; Voit, T; Yoon, G; Alvarez, R; Muntoni, F; Pierson, TM; Gómez-Andrés, D; Reghan Foley, A; Quijano-Roy, S; Bönnemann, CG; Bonne, G; - view fewer (2021) International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Communications , 3 (3) , Article fcab075. 10.1093/braincomms/fcab075.

Ben Zvi, Ido; Enright, Noelle; D'arco, Felice; Tahir, M Zubair; Chari, Aswin; Cross, J Helen; Eltze, Christin; Ben Zvi, Ido; Enright, Noelle; D'arco, Felice; Tahir, M Zubair; Chari, Aswin; Cross, J Helen; Eltze, Christin; Tisdall, Martin M; - view fewer (2022) Children with seizures and radiological diagnosis of focal cortical dysplasia: can drug-resistant epilepsy be predicted earlier? Epileptic Disorders , 24 (1) pp. 111-122. 10.1684/epd.2021.1368.

Benedetti, S; Uno, N; Hoshiya, H; Ragazzi, M; Ferrari, G; Kazuki, Y; Moyle, LA; ... Tedesco, FS; + view all Benedetti, S; Uno, N; Hoshiya, H; Ragazzi, M; Ferrari, G; Kazuki, Y; Moyle, LA; Tonlorenzi, R; Lombardo, A; Chaouch, S; Mouly, V; Moore, M; Popplewell, L; Kazuki, K; Katoh, M; Naldini, L; Dickson, G; Messina, G; Oshimura, M; Cossu, G; Tedesco, FS; - view fewer (2017) Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy. EMBO Molecular Medicine , 9 (12) pp. 1623-1764. 10.15252/emmm.201607284.

Beniczky, S; Aurlien, H; Franceschetti, S; Martins da Silva, A; Bisulli, F; Bentes, C; Canafoglia, L; ... Arzimanoglou, A; + view all Beniczky, S; Aurlien, H; Franceschetti, S; Martins da Silva, A; Bisulli, F; Bentes, C; Canafoglia, L; Ferri, L; Krýsl, D; Peralta, AR; Rácz, A; Cross, JH; Arzimanoglou, A; - view fewer (2020) Interrater agreement on classification of photoparoxysmal electroencephalographic response. Epilepsia , 61 (9) e124-e128. 10.1111/epi.16655.

Beniczky, S; Husain, A; Ikeda, A; Alabri, H; Helen Cross, J; Wilmshurst, J; Seeck, M; ... Trinka, E; + view all Beniczky, S; Husain, A; Ikeda, A; Alabri, H; Helen Cross, J; Wilmshurst, J; Seeck, M; Focke, N; Braga, P; Wiebe, S; Schuele, S; Trinka, E; - view fewer (2021) Importance of access to epilepsy monitoring units during the COVID-19 pandemic: Consensus statement of the International League against epilepsy and the International Federation of Clinical Neurophysiology. Clinical Neurophysiology , 132 (9) pp. 2248-2250. 10.1016/j.clinph.2021.05.001.

Beniczky, S; Aurlien, H; Brøgger, JC; Hirsch, LJ; Schomer, DL; Trinka, E; Pressler, RM; ... Herman, ST; + view all Beniczky, S; Aurlien, H; Brøgger, JC; Hirsch, LJ; Schomer, DL; Trinka, E; Pressler, RM; Wennberg, R; Visser, GH; Eisermann, M; Diehl, B; Lesser, RP; Kaplan, PW; Nguyen The Tich, S; Lee, JW; Martins-da-Silva, A; Stefan, H; Neufeld, M; Rubboli, G; Fabricius, M; Gardella, E; Terney, D; Meritam, P; Eichele, T; Asano, E; Cox, F; van Emde Boas, W; Mameniskiene, R; Marusic, P; Zárubová, J; Schmitt, FC; Rosén, I; Fuglsang-Frederiksen, A; Ikeda, A; MacDonald, DB; Terada, K; Ugawa, Y; Zhou, D; Herman, ST; - view fewer (2017) Standardized computer-based organized reporting of EEG: SCORE – Second version. [Review]. Clinical Neurophysiology , 128 (11) pp. 2334-2346. 10.1016/j.clinph.2017.07.418.

Beniczky, S; Neufeld, M; Diehl, B; Dobesberger, J; Trinka, E; Mameniskiene, R; Rheims, S; ... Ryvlin, P; + view all Beniczky, S; Neufeld, M; Diehl, B; Dobesberger, J; Trinka, E; Mameniskiene, R; Rheims, S; Gil-Nagel, A; Craiu, D; Pressler, R; Krysl, D; Lebedinsky, A; Tassi, L; Rubboli, G; Ryvlin, P; - view fewer (2016) Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association. Epilepsia , 57 (9) pp. 1363-1368. 10.1111/epi.13472.

Bennett, S; Au, C; Byford, S; Chorpita, B; Coughtrey, A; Cross, H; Dalrymple, E; ... Shafran, R; + view all Bennett, S; Au, C; Byford, S; Chorpita, B; Coughtrey, A; Cross, H; Dalrymple, E; Fonagy, P; Ford, T; Heyman, I; Lewins, A; Moss-Morris, R; Reilly, C; Xu, L; Shafran, R; - view fewer (2021) Feasibility of telephone-delivered therapy for common mental health difficulties embedded in paediatric epilepsy clinics. Epilepsy & Behavior , 116 , Article 107743. 10.1016/j.yebeh.2020.107743.

Bennett, KH; Pujar, SS; Martinos, MM; Clark, CA; Yoong, M; Scott, RC; Chin, RFM; (2020) Subcortical nuclei volumes are associated with cognition in children post-convulsive status epilepticus: Results at nine years follow-up. Epilepsy & Behavior , 110 , Article 107119. 10.1016/j.yebeh.2020.107119. (In press).

Bennett, S; (2021) M.I.C.E – Mental Health Intervention for Children with Epilepsy: A randomised controlled, multi-centre clinical trial evaluating the clinical and cost-effectiveness of MATCH-ADTC in addition to usual care compared to usual care alone for children and young people with common mental health disorders and epilepsy – Study protocol. Trials , 22 , Article 132. 10.1186/s13063-020-05003-9.

Berkley, JA; Ross, A; Mwangi, I; Osier, FH; Mohammed, M; Shebbe, M; Lowe, BS; ... Newton, CR; + view all Berkley, JA; Ross, A; Mwangi, I; Osier, FH; Mohammed, M; Shebbe, M; Lowe, BS; Marsh, K; Newton, CR; - view fewer (2003) Prognostic indicators of early and late death in children admitted to district hospital in Kenya: cohort study. BMJ (Clinical Research Ed.) , 326 (7385) pp. 361-363. 10.1136/bmj.326.7385.361.

Bernabò, P; Tebaldi, T; Groen, EJN; Lane, FM; Perenthaler, E; Mattedi, F; Newbery, HJ; ... Viero, G; + view all Bernabò, P; Tebaldi, T; Groen, EJN; Lane, FM; Perenthaler, E; Mattedi, F; Newbery, HJ; Zhou, H; Zuccotti, P; Potrich, V; Shorrock, HK; Muntoni, F; Quattrone, A; Gillingwater, TH; Viero, G; - view fewer (2017) In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. Cell Reports , 21 (4) pp. 953-965. 10.1016/j.celrep.2017.10.010.

Bertini, E; Dessaud, E; Mercuri, E; Muntoni, F; Kirschner, J; Reid, C; Lusakowska, A; ... Fontoura, P; + view all Bertini, E; Dessaud, E; Mercuri, E; Muntoni, F; Kirschner, J; Reid, C; Lusakowska, A; Comi, GP; Cuisset, J-M; Abitbol, J-L; Scherrer, B; Ducray, PS; Buchbjerg, J; Vianna, E; van der Pol, WL; Vuillerot, C; Blaettler, T; Fontoura, P; - view fewer (2017) Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurology , 16 (7) pp. 513-522. 10.1016/S1474-4422(17)30085-6.

Bertoli, S; De Amicis, R; Mastella, C; Pieri, G; Giaquinto, E; Battezzati, A; Leone, A; Bertoli, S; De Amicis, R; Mastella, C; Pieri, G; Giaquinto, E; Battezzati, A; Leone, A; Baranello, G; - view fewer (2017) Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure? Clinical Nutrition , 36 (6) pp. 1674-1680. 10.1016/j.clnu.2016.10.020.

Bertoli, S; Foppiani, A; De Amicis, R; Leone, A; Mastella, C; Bassano, M; Giaquinto, E; ... Battezzati, A; + view all Bertoli, S; Foppiani, A; De Amicis, R; Leone, A; Mastella, C; Bassano, M; Giaquinto, E; Baranello, G; Battezzati, A; - view fewer (2019) Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. European Journal of Clinical Nutrition 10.1038/s41430-019-0392-2. (In press).

Beslow, LA; Linds, AB; Fox, CK; Kossorotoff, M; Zuñiga Zambrano, YC; Hernández-Chávez, M; Hassanein, SMA; ... International Pediatric Stroke Study Group; + view all Beslow, LA; Linds, AB; Fox, CK; Kossorotoff, M; Zuñiga Zambrano, YC; Hernández-Chávez, M; Hassanein, SMA; Byrne, S; Lim, M; Maduaka, N; Zafeiriou, D; Dowling, MM; Felling, RJ; Rafay, MF; Lehman, LL; Noetzel, MJ; Bernard, TJ; Dlamini, N; International Pediatric Stroke Study Group; - view fewer (2021) Pediatric Ischemic Stroke: An Infrequent Complication of SARS-CoV-2. Annals of Neurology , 89 (4) pp. 657-665. 10.1002/ana.25991.

Beslow, LA; Dowling, MM; Hassanein, SMA; Lynch, JK; Zafeiriou, D; Sun, LR; Kopyta, I; ... Lee, J; + view all Beslow, LA; Dowling, MM; Hassanein, SMA; Lynch, JK; Zafeiriou, D; Sun, LR; Kopyta, I; Titomanlio, L; Kolk, A; Chan, A; Biller, J; Grabowski, EF; Abdalla, AA; Mackay, MT; DeVeber, G; Ashwal, S; Ferriero, D; Fullerton, H; Ichord, R; Kirkham, F; O'Callaghan, F; Pavlakis, S; Sebire, G; Willan, A; Kirton, A; Goldenberg, N; Saengpattrachai, M; Crosswell, H; Rivkin, M; Bjornson, B; Tatishvili, N; Brankovic-Sreckovic, V; Bernard, T; Armstrong, J; Humphreys, P; Heyer, G; Fryer, R; Yeh, A; Billinghurst, L; Khoury, C; Abraham, L; Whelan, H; Nowak-Gottl, U; Wainwright, M; Condie, J; Carpenter, J; Holzhauer, S; Guang, Y; Zou, LP; Taylor, JM; Friedman, N; Conto, L; Sultan, S; Elkind, M; Torres, M; Zecavati, N; Ganesan, V; Alveal, LA; Troncoso, M; Altuna, D; Soler, PG; Gonzalez, V; Moharir, M; Dlamini, N; Xavier, F; Buckley, D; Hegde, A; Miteff, C; Felling, R; Toma, A; Ashwal, S; McClure, C; Cardona, F; Deray, M; Jordan, L; Paolicchi, J; Kovacevic, G; Lo, W; Chung, M; Lee, J; - view fewer (2018) Mortality After Pediatric Arterial Ischemic Stroke. Pediatrics , 141 (5) , Article e20174146. 10.1542/peds.2017-4146.

Betts, CA; Jagannath, A; van Westering, TLE; Bowerman, M; Banerjee, S; Meng, J; Falzarano, MS; ... Wood, MJA; + view all Betts, CA; Jagannath, A; van Westering, TLE; Bowerman, M; Banerjee, S; Meng, J; Falzarano, MS; Cravo, L; McClorey, G; Meijboom, KE; Bhomra, A; Lim, WF; Rinaldi, C; Counsell, JR; Chwalenia, K; O’Donovan, E; Saleh, AF; Gait, MJ; Morgan, JE; Ferlini, A; Foster, RG; Wood, MJA; - view fewer (2021) Dystrophin involvement in peripheral circadian SRF signalling. Life Science Alliance , 4 (10) , Article e202101014. 10.26508/lsa.202101014.

Bevandić, Juraj; Chareyron, Loïc J; Bachevalier, Jocelyne; Cacucci, Francesca; Genzel, Lisa; Newcombe, Nora S; Vargha-Khadem, Faraneh; Bevandić, Juraj; Chareyron, Loïc J; Bachevalier, Jocelyne; Cacucci, Francesca; Genzel, Lisa; Newcombe, Nora S; Vargha-Khadem, Faraneh; Ólafsdóttir, H Freyja; - view fewer (2024) Episodic memory development: Bridging animal and human research. Neuron 10.1016/j.neuron.2024.01.020. (In press).

Bhatoa, Raj Seraya; Nijjar, Simrit; Bathelt, Joe; de Haan, Michelle; (2025) The impact of gestational age on executive function in infancy and early-to-middle childhood following preterm birth: a systematic review. Child Neuropsychology 10.1080/09297049.2025.2467950. (In press).

Bianchi, ML; Vai, S; Baranello, G; Broggi, F; Judex, S; Hangartner, T; Rubin, C; (2022) Low-Intensity Vibration Protects the Weight-Bearing Skeleton and Suppresses Fracture Incidence in Boys With Duchenne Muscular Dystrophy: A Prospective, Randomized, Double-Blind, Placebo-Controlled Clinical Trial. JBMR Plus , Article e10685. 10.1002/jbm4.10685. (In press).

Biferi, MG; Cohen-Tannoudji, M; Cappelletto, A; Giroux, B; Roda, M; Astord, S; Marais, T; ... Barkats, M; + view all Biferi, MG; Cohen-Tannoudji, M; Cappelletto, A; Giroux, B; Roda, M; Astord, S; Marais, T; Bos, C; Voit, T; Ferry, A; Barkats, M; - view fewer (2017) A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model. Molecular Therapy , 25 (9) pp. 2038-2052. 10.1016/j.ymthe.2017.05.017.

Bigoni, S; Neri, M; Scotton, C; Farina, R; Sabatelli, P; Jiang, C; Zhang, J; ... Ferlini, A; + view all Bigoni, S; Neri, M; Scotton, C; Farina, R; Sabatelli, P; Jiang, C; Zhang, J; Falzarano, MS; Rossi, R; Ognibene, D; Selvatici, R; Gualandi, F; Bosshardt, D; Perri, P; Campa, C; Brancati, F; Salvatore, M; De Stefano, MC; Taruscio, D; Trombelli, L; Fang, M; Ferlini, A; - view fewer (2019) Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. Frontiers in Genetics , 9 , Article 723. 10.3389/fgene.2018.00723.

Bihlmeyer, NA; Brody, JA; Smith, AV; Warren, HR; Lin, H; Isaacs, A; Liu, C-T; ... Sotoodehnia, N; + view all Bihlmeyer, NA; Brody, JA; Smith, AV; Warren, HR; Lin, H; Isaacs, A; Liu, C-T; Marten, J; Radmanesh, F; Hall, LM; Grarup, N; Mei, H; Muller-Nurasyid, M; Huffman, JE; Verweij, N; Guo, X; Yao, J; Li-Gao, R; van den Berg, M; Weiss, S; Prins, BP; van Setten, J; Haessler, J; Lyytikainen, L-P; Li, M; Alonso, A; Soliman, EZ; Bis, JC; Austin, T; Chen, Y-DI; Psaty, BM; Harrris, TB; Launer, LJ; Padmanabhan, S; Dominiczak, A; Huang, PL; Xie, Z; Ellinor, PT; Kors, JA; Campbell, A; Murray, AD; Nelson, CP; Tobin, MD; Bork-Jensen, J; Hansen, T; Pedersen, O; Linneberg, A; Sinner, MF; Peters, A; Waldenberger, M; Meitinger, T; Perz, S; Kolcic, I; Rudan, I; de Boer, RA; van der Meer, P; Lin, HJ; Taylor, KD; de Mutsert, R; Trompet, S; Jukema, JW; Maan, AC; Stricker, BHC; Rivadeneira, F; Uitterlinden, A; Volker, U; Homuth, G; Volzke, H; Felix, SB; Mangino, M; Spector, TD; Bots, ML; Perez, M; Raitakari, OT; Kahonen, M; Mononen, N; Gudnason, V; Munroe, PB; Lubitz, SA; van Duijn, CM; Newton-Cheh, CH; Hayward, C; Rosand, J; Samani, NJ; Kanters, JK; Wilson, JG; Kaab, S; Polasek, O; van der Harst, P; Heckbert, SR; Rotter, JI; Mook-Kanamori, DO; Eij-Gelsheim, M; Dorr, M; Jamshidi, Y; Asselbergs, FW; Kooperberg, C; Lehtimaki, T; Arking, DE; Sotoodehnia, N; - view fewer (2018) ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals. Circulation: Genomic and Precision Medicine , 11 (1) , Article e001758. 10.1161/CIRCGEN.117.001758.

Birkeland, P; Tharmabalan, V; Lauritsen, J; Ganesan, V; Bjarkam, CR; von Weitzel-Mudersbach, P; (2020) Moyamoya disease in a European setting: a Danish population-based study. European Journal of Neurology , 27 (12) pp. 2446-2452. 10.1111/ene.14439.

Bis-Brewer, DM; Gan-Or, Z; Sleiman, P; Rodriguez, A; Bacha, A; Kosikowski, A; Wood, B; ... Züchner, S; + view all Bis-Brewer, DM; Gan-Or, Z; Sleiman, P; Rodriguez, A; Bacha, A; Kosikowski, A; Wood, B; McCray, B; Blume, B; Siskind, C; Sumner, C; Calabrese, D; Walk, D; Vujovic, D; Park, E; Muntoni, F; Donlevy, G; Acsadi, G; Day, J; Burns, J; Li, J; Krajewski, K; Eichinger, K; Cornett, K; Mullen, K; Perez, L; Gutmann, L; Barrett, M; Saporta, M; Skorupinska, M; Grant, N; Bray, P; Seyedsadjadi, R; Zuccarino, R; Finkel, R; Lewis, R; Yum, S; Hilbert, S; Thomas, S; Behrens-Spraggins, S; Jones, T; Grider, T; Estilow, T; Fridman, V; Reilly, MM; Shy, ME; Bacon, CJ; Feely, SME; Rossor, AM; Herrmann, DN; Hakonarson, H; Fazal, S; Courel, S; Cintra, V; Tao, F; Estiar, MA; Tarnopolsky, M; Boycott, KM; Yoon, G; Suchowersky, O; Dupré, N; Cheng, A; Lloyd, TE; Rouleau, G; Schüle, R; Züchner, S; - view fewer (2020) Assessing non-Mendelian inheritance in inherited axonopathies. Genetics in Medicine , 22 pp. 2114-2119. 10.1038/s41436-020-0924-0.

Bisello, G; Longo, C; Rossignoli, G; Phillips, RS; Bertoldi, M; (2020) Oxygen reactivity with pyridoxal 5'-phosphate enzymes: biochemical implications and functional relevance. Amino Acids 10.1007/s00726-020-02885-6. (In press).

Bishop, CA; Ricotti, V; Sinclair, CDJ; Evans, MRB; Butler, JW; Morrow, JM; Hanna, MG; ... Janiczek, RL; + view all Bishop, CA; Ricotti, V; Sinclair, CDJ; Evans, MRB; Butler, JW; Morrow, JM; Hanna, MG; Matthews, PM; Yousry, TA; Muntoni, F; Thornton, JS; Newbould, RD; Janiczek, RL; - view fewer (2018) Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. Frontiers in Neurology , 9 , Article 9. 10.3389/fneur.2018.00009.

Bishop, M; Hobson, RP; Lee, A; (2005) Symbolic play in congenitally blind children. DEV PSYCHOPATHOL , 17 (2) 447 - 465. 10.1017/S0954579405050212.

Biswas, A; Soo, AKS; Kurian, MA; Löbel, U; D'Arco, F; Batzios, S; Sudhakar, S; ... Aquilina, K; + view all Biswas, A; Soo, AKS; Kurian, MA; Löbel, U; D'Arco, F; Batzios, S; Sudhakar, S; Mankad, K; Gaur, P; Varga, P; De Vita, E; Cooper, J; Hassell, J; Hacohen, Y; Hemingway, C; Clark, CA; Rahman, S; Gissen, P; Baruteau, J; Broomfield, A; Menzies, L; Davison, J; Footitt, E; Chakrapani, A; Aquilina, K; - view fewer (2025) Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment. Journal of Inherited Metabolic Disease , 48 (1) , Article e12828. 10.1002/jimd.12828.

Bjellvi, J; Cross, JH; Gogou, M; Leclercq, M; Rheims, S; Ryvlin, P; Sperling, MR; ... Malmgren, K; + view all Bjellvi, J; Cross, JH; Gogou, M; Leclercq, M; Rheims, S; Ryvlin, P; Sperling, MR; Rydenhag, B; Malmgren, K; - view fewer (2021) Classification of complications of epilepsy surgery and invasive diagnostic procedures: A proposed protocol and feasibility study. Epilepsia 10.1111/epi.17040. (In press).

Blackburn, E; D’arco, F; Devito, A; Ioppolo, R; Lorio, S; Quirk, B; Ganesan, V; (2021) Predictors of motor outcome after childhood arterial ischemic stroke. Developmental Medicine & Child Neurology 10.1111/dmcn.14914. (In press).

Blencowe, N; Glasbey, J; Heywood, N; Kasivisvanathan, V; Lee, M; Nepogodiev, D; Wilkin, R; ... Williams, A; + view all Blencowe, N; Glasbey, J; Heywood, N; Kasivisvanathan, V; Lee, M; Nepogodiev, D; Wilkin, R; Allen, S; Borakati, A; Bosanquet, D; Chapman, S; Chari, A; Dunstan, M; Dyson, E; Edlmann, E; Gardner, MD; Harries, R; Hunter, J; Kolias, AG; Jamjoom, A; McGrath, J; Mohan, H; Morrison, R; Nana, G; Pinho-Gomes, A-C; McCain, S; Pinho-Gomes, A-C; Reynolds, R; Sheikh, S; Shalhoub, J; Stimpson, A; van Boxel, NSG; West, M; Wild, J; Baker, D; Barmayehvar, B; Bath, M; Beamish, AJ; Bhangu, A; Canter, R; Clements, J; Cotton, A; Dabab, N; Doherty, D; Fitzgerald, JE; Heywood, E; Johnston, M; Hickland, P; Kamarajah, S; Hoo, C; Marshall, J; McClean, K; Morley, R; Srikandarajah, N; Fleming, S; Stephens, N; Ward, A; Yasin, I; Yasin, T; Morton, D; Blazeby, J; Pinkney, T; Rangan, A; Bach, S; Williams, A; - view fewer (2018) Recognising contributions to work in research collaboratives: Guidelines for standardising reporting of authorship in collaborative research. International Journal of Surgery , 52 pp. 355-360. 10.1016/j.ijsu.2017.12.019.

Bluebond-Langner, MH; Beecham, E; Howard, R; McCulloch, R; Candy, B; Laddie, J; Rees, H; ... Jones, L; + view all Bluebond-Langner, MH; Beecham, E; Howard, R; McCulloch, R; Candy, B; Laddie, J; Rees, H; Vickerstaff, V; Jones, L; - view fewer (2013) Pharmacological interventions for pain for life-limiting conditions in children and adolescents. Cochrane Database of Systematic Reviews , 9 10.1002/14651858.CD010750.

Blumberg, BJ; Flynn, SP; Barriere, SJ; Mouchati, PR; Scott, RC; Holmes, GL; Barry, JM; (2016) Efficacy of nonselective optogenetic control of the medial septum over hippocampal oscillations: the influence of speed and implications for cognitive enhancement. Physiological Reports , 4 (23) , Article e13048. 10.14814/phy2.13048.

Blumcke, I; Spreafico, R; Haaker, G; Coras, R; Kobow, K; Bien, CG; Pfaefflin, M; ... Avanzini, G; + view all Blumcke, I; Spreafico, R; Haaker, G; Coras, R; Kobow, K; Bien, CG; Pfaefflin, M; Elger, C; Widman, G; Schramm, J; Becker, A; Braun, KP; Leijten, F; Baayen, JC; Aronica, E; Chassoux, F; Hamer, H; Stefan, H; Roessler, K; Thom, M; Walker, MC; Sisodiya, SM; Duncan, JS; McEvoy, AW; Pieper, T; Holthausen, H; Kudernatsch, M; Meencke, HJ; Kahane, P; Schulze-Bonhage, A; Zentner, J; Heiland, DH; Urbach, H; Steinhoff, BJ; Bast, T; Tassi, L; Lo Russo, G; Ozkara, C; Oz, B; Krsek, P; Vogelgesang, S; Runge, U; Lerche, H; Weber, Y; Honavar, M; Pimentel, J; Arzimanoglou, A; Ulate-Campos, A; Noachtar, S; Hartl, E; Schijns, O; Guerrini, R; Barba, C; Jacques, TS; Cross, JH; Feucht, M; Muehlebner, A; Grunwald, T; Trinka, E; Winkler, PA; Gil-Nagel, A; Delgado, RT; Mayer, T; Lutz, M; Zountsas, B; Garganis, K; Rosenow, F; Hermsen, A; von Oertzen, TJ; Diepgen, TL; Avanzini, G; - view fewer (2017) Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. The New England Journal of Medicine , 377 (17) pp. 1648-1656. 10.1056/NEJMoa1703784.

Böhm, J; Bulla, M; Urquhart, JE; Malfatti, E; Williams, SG; O'Sullivan, J; Szlauer, A; ... Laporte, J; + view all Böhm, J; Bulla, M; Urquhart, JE; Malfatti, E; Williams, SG; O'Sullivan, J; Szlauer, A; Koch, C; Baranello, G; Mora, M; Ripolone, M; Violano, R; Moggio, M; Kingston, H; Dawson, T; DeGoede, CG; Nixon, J; Boland, A; Deleuze, J-F; Romero, N; Newman, WG; Demaurex, N; Laporte, J; - view fewer (2017) ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. Human Mutation , 38 (4) pp. 426-438. 10.1002/humu.23172.

Boldrin, L; Morgan, JE; (2013) Grafting of a single donor myofibre promotes hypertrophy in dystrophic mouse muscle. PLoS One , 8 (1) , Article e54599. 10.1371/journal.pone.0054599.

Boldrin, L; Morgan, JE; (2012) Human satellite cells: identification on human muscle fibres. PLoS Curr , 3 10.1371/currents.RRN1294.

Boldrin, L; Ross, JA; Whitmore, C; Doreste, B; Beaver, C; Eddaoudi, A; Pearce, DJ; Boldrin, L; Ross, JA; Whitmore, C; Doreste, B; Beaver, C; Eddaoudi, A; Pearce, DJ; Morgan, JE; - view fewer (2017) The effect of calorie restriction on mouse skeletal muscle is sex, strain and time-dependent. Science Reports , 7 (1) , Article 5160. 10.1038/s41598-017-04896-y.

Boldrin, L; Zammit, PS; Morgan, JE; (2015) Satellite cells derived from the mdx murine model of Duchenne muscular dystrophy retain their muscle regenerative capacity. Stem Cell Research , 14 (1) pp. 20-29. 10.1016/j.scr.2014.10.007.

Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; ... UK10K Rare Diseases Group; + view all Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; Horn, N; Willer, JR; Mans, DA; Dougherty, G; Lamers, IJ; Coene, KL; Arts, HH; Betts, MJ; Beyer, T; Bolat, E; Gloeckner, CJ; Haidari, K; Hetterschijt, L; Iaconis, D; Jenkins, D; Klose, F; Knapp, B; Latour, B; Letteboer, SJ; Marcelis, CL; Mitic, D; Morleo, M; Oud, MM; Riemersma, M; Rix, S; Terhal, PA; Toedt, G; van Dam, TJ; De Vrieze, E; Wissinger, Y; Wu, KM; Apic, G; Beales, PL; Blacque, OE; Gibson, TJ; Huynen, MA; Katsanis, N; Kremer, H; Omran, H; Van Wijk, E; Wolfrum, U; Kepes, F; Davis, EE; Franco, B; Giles, RH; Ueffing, M; Russell, RB; Roepman, R; UK10K Rare Diseases Group; - view fewer (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications , 7 , Article 11491. 10.1038/ncomms11491.

Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; ... Bönnemann, CG; + view all Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; Sizov, K; Nalls, M; Zhou, H; Aguti, S; Cummings, BB; Lek, M; Tukiainen, T; Marshall, JL; Regev, O; Marek-Yagel, D; Sarkozy, A; Butterfield, RJ; Jou, C; Jimenez-Mallebrera, C; Li, Y; Gartioux, C; Mamchaoui, K; Allamand, V; Gualandi, F; Ferlini, A; Hanssen, E; COL6A1 Intron 11 Study Group; Wilton, SD; Lamandé, SR; MacArthur, DG; Wagener, R; Muntoni, F; Bönnemann, CG; - view fewer (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight , 4 (6) 10.1172/jci.insight.124403.

Bonanno, S; Marcuzzo, S; Malacarne, C; Giagnorio, E; Masson, R; Zanin, R; Arnoldi, MT; ... Maggi, L; + view all Bonanno, S; Marcuzzo, S; Malacarne, C; Giagnorio, E; Masson, R; Zanin, R; Arnoldi, MT; Andreetta, F; Simoncini, O; Venerando, A; Gellera, C; Pantaleoni, C; Mantegazza, R; Bernasconi, P; Baranello, G; Maggi, L; - view fewer (2020) Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients. Biomedicines , 8 (2) , Article 21. 10.3390/biomedicines8020021.

Bönnemann, Carsten G; Belluscio, Beth A; Braun, Serge; Morris, Carl; Singh, Teji; Muntoni, Francesco; (2023) Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy. The New England Journal of Medicine , 388 (24) pp. 2294-2296. 10.1056/NEJMc2212912.

Bonthrone, Alexandra F; Green, Dido; Morgan, Angela T; Mankad, Kshitij; Clark, Christopher A; Liégeois, Frédérique J; (2023) Attention and motor profiles in children with developmental coordination disorder: A neuropsychological and neuroimaging investigation. Developmental Medicine & Child Neurology 10.1111/dmcn.15745. (In press).

Bonthrone, Alexandra Faye; (2018) Brain Imaging Correlates of Developmental Coordination Disorder and Associated Impairments. Doctoral thesis (Ph.D), UCL (University College London).

Boonzaier, NR; Hales, PW; D'Arco, F; Walters, BC; Kaur, R; Mankad, K; Cooper, J; ... Clark, CA; + view all Boonzaier, NR; Hales, PW; D'Arco, F; Walters, BC; Kaur, R; Mankad, K; Cooper, J; Liasis, A; Smith, V; O'Hare, P; Hargrave, D; Clark, CA; - view fewer (2020) Quantitative MRI demonstrates abnormalities of the third ventricle subventricular zone in neurofibromatosis type-1 and sporadic paediatric optic pathway glioma. NeuroImage: Clinical , 28 , Article 102447. 10.1016/j.nicl.2020.102447.

Boonzaier, NR; Larkin, TJ; Matys, T; van der Hoorn, A; Yan, J-L; Price, SJ; (2017) Multiparametric MR Imaging of Diffusion and Perfusion in Contrast-enhancing and Nonenhancing Components in Patients with Glioblastoma. Radiology , 284 (1) pp. 180-190. 10.1148/radiol.2017160150.

Booth, Rhonda; (2021) Agenesis of the Corpus Callosum: Information for families and individuals affected by disorders of the Corpus Callosum. Corpal: DCC &. Aicardi Syndrome UK

Booth, RDL; Happé, FGE; (2016) Evidence of Reduced Global Processing in Autism Spectrum Disorder. Journal of Autism and Developmental Disorders 10.1007/s10803-016-2724-6. (In press).

Botcharova, M; Berthouze, L; Brookes, MJ; Barnes, GR; Farmer, SF; (2015) Resting state MEG oscillations show long-range temporal correlations of phase synchrony that break down during finger movement. Frontiers in Physiology , 6 , Article 183. 10.3389/fphys.2015.00183.

Botcharova, M; Farmer, SF; Berthouze, L; (2014) Markers of criticality in phase synchronization. Front Syst Neurosci , 8 , Article 176. 10.3389/fnsys.2014.00176.

Botcharova, M; Farmer, SF; Berthouze, L; (2013) A maximum likelihood based technique for validating detrended fluctuation analysis (ML-DFA). arXiv.org: Ithaca (NY), USA.

Botcharova, M; Farmer, SF; Berthouze, L; (2012) Power-law distribution of phase-locking intervals does not imply critical interaction. Physical Review E , 86 (5) , Article 051920. 10.1103/PhysRevE.86.051920.

Boult, JKR; Apps, JR; Hölsken, A; Hutchinson, JC; Carreno, G; Danielson, LS; Smith, LM; ... Robinson, SP; + view all Boult, JKR; Apps, JR; Hölsken, A; Hutchinson, JC; Carreno, G; Danielson, LS; Smith, LM; Bäuerle, T; Buslei, R; Buchfelder, M; Virasami, AK; Koers, A; Arthurs, OJ; Jacques, TS; Chesler, L; Martinez-Barbera, JP; Robinson, SP; - view fewer (2017) Preclinical transgenic and patient-derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma. Brain Pathology 10.1111/bpa.12525. (In press).

Bourdon, A; François, V; Zhang, L; Lafoux, A; Fraysse, B; Toumaniantz, G; Larcher, T; ... Le Guiner, C; + view all Bourdon, A; François, V; Zhang, L; Lafoux, A; Fraysse, B; Toumaniantz, G; Larcher, T; Girard, T; Ledevin, M; Lebreton, C; Hivonnait, A; Creismeas, A; Allais, M; Marie, B; Guguin, J; Blouin, V; Remy, S; Anegon, I; Huchet, C; Malerba, A; Kao, B; Le Heron, A; Moullier, P; Dickson, G; Popplewell, L; Adjali, O; Montanaro, F; Le Guiner, C; - view fewer (2022) Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMDmdx rat model. Gene Therapy 10.1038/s41434-022-00317-6. (In press).

Bourke, John P; Bryant, Andrew; Landon, Gregory; Burn, Alexis; Spinty, Stefan; Quinlivan, Ros; Alhaswani, Zoya; ... DMD Heart Study Group; + view all Bourke, John P; Bryant, Andrew; Landon, Gregory; Burn, Alexis; Spinty, Stefan; Quinlivan, Ros; Alhaswani, Zoya; Chadwick, Thomas; Muntoni, Francesco; Guglieri, Michela; DMD Heart Study Group; - view fewer (2025) Preventing Cardiomyopathy in Duchenne Muscular Dystrophy: Long-Term Follow-Up of Patients in the Randomised, Placebo-Controlled Drug-Trial of Perindopril and Bisoprolol. European Journal of Neurology , 32 (3) , Article e70097. 10.1111/ene.70097.

Bourke, Niall J; Demarchi, Célia; De Simoni, Sara; Samra, Ravjeet; Patel, Maneesh C; Kuczynski, Adam; Mok, Quen; ... Sharp, David J; + view all Bourke, Niall J; Demarchi, Célia; De Simoni, Sara; Samra, Ravjeet; Patel, Maneesh C; Kuczynski, Adam; Mok, Quen; Wimalasundera, Neil; Vargha-Khadem, Fareneh; Sharp, David J; - view fewer (2022) Brain volume abnormalities and clinical outcomes following paediatric traumatic brain injur. Brain , Article awac130. 10.1093/brain/awac130. (In press).

Bourke, JP; Watson, G; Muntoni, F; Spinty, S; Roper, H; Guglieri, M; Speed, C; ... DMD Heart Protection study group, .; + view all Bourke, JP; Watson, G; Muntoni, F; Spinty, S; Roper, H; Guglieri, M; Speed, C; McColl, E; Chikermane, A; Jayawant, S; Adwani, S; Willis, T; Wilkinson, J; Bryant, A; Chadwick, T; Wood, R; Bushby, K; DMD Heart Protection study group, .; - view fewer (2018) Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study. BMJ Open , 8 (12) , Article e022572. 10.1136/bmjopen-2018-022572.

Bovolenta, M; Neri, M; Fini, S; Fabris, M; Trabanelli, C; Venturoli, A; Martoni, E; ... Ferlini, A; + view all Bovolenta, M; Neri, M; Fini, S; Fabris, M; Trabanelli, C; Venturoli, A; Martoni, E; Bassi, E; Spitali, P; Brioschi, S; Falzarano, MS; Rimessi, P; Ciccone, R; Ashton, E; McCauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, L; Gualandi, F; Ferlini, A; - view fewer (2008) A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC GENOMICS , 9 , Article 572. 10.1186/1471-2164-9-572.

Boyle, Luke D; Miguelez-Crespo, Allende; Paul, Mhairi; Villalobos, Elisa; Toews, Julia NC; Ivatt, Lisa; Nagy, Boglarka; ... Nixon, Mark; + view all Boyle, Luke D; Miguelez-Crespo, Allende; Paul, Mhairi; Villalobos, Elisa; Toews, Julia NC; Ivatt, Lisa; Nagy, Boglarka; Magennis, Marisa; Homer, Natalie ZM; Andrew, Ruth; Viau, Victor; Hammond, Geoffrey L; Stimson, Roland H; Walker, Brian R; Nixon, Mark; - view fewer (2025) The NE/AAT/CBG axis regulates adipose tissue glucocorticoid exposure. Nature Communications , 16 (1) , Article 545. 10.1038/s41467-024-55693-x.

Braun, KPJ; Cross, JH; (2018) Pediatric epilepsy surgery: the earlier the better. Expert Review of Neurotherapeutics , 18 (4) pp. 261-263. 10.1080/14737175.2018.1455503.

Brayson, Daniel; Shanahan, Catherine M; (2022) Lamin A precursor localizes to the Z-disc of sarcomeres in the heart and is dynamically regulated in muscle cell differentiation. Philosophical Transactions of the Royal Society B: Biological Sciences , 377 (1864) 10.1098/rstb.2021.0490.

Brayson, D; Frigiola, A; Clark, JE; (2019) Dynamic heart rate response to multi-day unsupported ultra-endurance cycle racing: a case report. Experimental Physiology , 104 (2) pp. 174-179. 10.1113/EP087341.

Brayson, D; Frustaci, A; Verardo, R; Chimenti, C; Russo, MA; Hayward, R; Ahmad, SM; ... Shanahan, CM; + view all Brayson, D; Frustaci, A; Verardo, R; Chimenti, C; Russo, MA; Hayward, R; Ahmad, SM; Vizcay-Barrena, G; Protti, A; Zammit, PS; dos Remedios, CG; Ehler, E; Shah, AM; Shanahan, CM; - view fewer (2019) Prelamin A mediates inflammation in dilated and HIV associated cardiomyopathies. JCI Insight , 4 (22) , Article e126315. 10.1172/jci.insight.126315.

Brayson, D; Holohan, S; Bardswell, SC; Arno, M; Lu, H; Jensen, HK; Tran, PK; ... Kentish, JC; + view all Brayson, D; Holohan, S; Bardswell, SC; Arno, M; Lu, H; Jensen, HK; Tran, PK; Barallobre‐Barreiro, J; Mayr, M; dos Remedios, CG; Tsang, VT; Frigiola, A; Kentish, JC; - view fewer (2020) Right Ventricle Has Normal Myofilament Function But Shows Perturbations in the Expression of Extracellular Matrix Genes in Patients With Tetralogy of Fallot Undergoing Pulmonary Valve Replacement. Journal of the American Heart Association , 9 (16) 10.1161/jaha.119.015342.

Brayson, D; Shanahan, CM; (2017) Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. Nucleus , 8 (1) pp. 17-33. 10.1080/19491034.2016.1260798.

Brennan, LC; Kirkham, FJ; Gavlak, JC; (2020) Sleep-disordered breathing and comorbidities: Role of the upper airway and craniofacial skeleton. Nature and Science of Sleep , 12 pp. 907-936. 10.2147/NSS.S146608.

Brewin, J; Tewari, S; Menzel, S; Kirkham, F; Inusa, B; Renney, G; Ward, M; Brewin, J; Tewari, S; Menzel, S; Kirkham, F; Inusa, B; Renney, G; Ward, M; Rees, DC; - view fewer (2019) The effects of hydroxycarbamide on the plasma proteome of children with sickle cell anaemia. British Journal of Haematology , 186 (6) pp. 879-886. 10.1111/bjh.15996.

Briggs, D; Morgan, JE; (2013) Recent progress in satellite cell/myoblast engraftment – relevance for therapy. FEBS Journal , 280 (17) pp. 4281-4293. 10.1111/febs.12273.

Brockington, M; Torelli, S; Sharp, PS; Liu, K; Cirak, S; Brown, SC; Wells, DJ; Brockington, M; Torelli, S; Sharp, PS; Liu, K; Cirak, S; Brown, SC; Wells, DJ; Muntoni, F; - view fewer (2010) Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle. PLOS ONE , 5 (12) , Article e14434. 10.1371/journal.pone.0014434.

Brogna, C; Coratti, G; Pane, M; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; ... on behalf on the International DMD group, .; + view all Brogna, C; Coratti, G; Pane, M; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; Vita, G; Berardinelli, A; Mazzone, E; Magri, F; Ricci, F; Mongini, T; Battini, R; Bello, L; Pegoraro, E; Baranello, G; Previtali, SC; Politano, L; Comi, GP; Sansone, VA; Donati, A; Bertini, E; Muntoni, F; Goemans, N; Mercuri, E; on behalf on the International DMD group, .; - view fewer (2019) Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One , 14 (6) , Article e0218683. 10.1371/journal.pone.0218683.

Brown, Kate L; Agrawal, Shruti; Kirschen, Matthew P; Traube, Chani; Topjian, Alexis; Pressler, Ronit; Hahn, Cecil D; ... Tasker, Robert C; + view all Brown, Kate L; Agrawal, Shruti; Kirschen, Matthew P; Traube, Chani; Topjian, Alexis; Pressler, Ronit; Hahn, Cecil D; Scholefield, Barnaby R; Kanthimathinathan, Hari Krishnan; Hoskote, Aparna; D'Arco, Felice; Bembea, Melania; Manning, Joseph C; Hunfeld, Maayke; Buysse, Corinne; Tasker, Robert C; - view fewer (2022) The brain in pediatric critical care: unique aspects of assessment, monitoring, investigations, and follow-up. Intensive Care Medicine , 48 pp. 535-547. 10.1007/s00134-022-06683-4.

Brown, SC; Fernandez-Fuente, M; Muntoni, F; Vissing, J; (2020) Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. Journal of Neuropathology & Experimental Neurology , 79 (12) pp. 1257-1264. 10.1093/jnen/nlaa120.

Brown, APY; (2016) Intrinsic and Visually-Evoked Properties of Layer 2/3 Neurons in Mouse Primary Visual Cortex and Their Dependence on Sensory Experience. Doctoral thesis , UCL (University College London).

Brown, KL; Pagel, C; Brimmell, R; Bull, K; Davis, P; Franklin, RC; Hoskote, A; ... Mclean, A; + view all Brown, KL; Pagel, C; Brimmell, R; Bull, K; Davis, P; Franklin, RC; Hoskote, A; Khan, N; Rodrigues, W; Thorne, S; Smith, L; Chigaru, L; Utley, M; Wray, J; Tsang, V; Mclean, A; - view fewer (2017) Definition of important early morbidities related to paediatric cardiac surgery. Cardiology in the Young , 27 (4) pp. 747-756. 10.1017/S1047951116001256.

Brown, KL; Pagel, C; Ridout, D; Wray, J; Tsang, VT; Anderson, D; Banks, V; ... Witter, T; + view all Brown, KL; Pagel, C; Ridout, D; Wray, J; Tsang, VT; Anderson, D; Banks, V; Barron, DJ; Cassidy, J; Chigaru, L; Davis, P; Franklin, R; Grieco, L; Hoskote, A; Hudson, E; Jones, A; Kakat, S; Lakhani, R; Lakhanpaul, M; McLean, A; Morris, S; Rajagopal, V; Rodrigues, W; Sheehan, K; Stoica, S; Tibby, S; Utley, M; Witter, T; - view fewer (2020) Early morbidities following paediatric cardiac surgery: a mixed-methods study. Health Services and Delivery Research , 8 (30) pp. 1-192. 10.3310/hsdr08300.

Brown, KL; Ridout, DA; Pagel, C; Lakhanpaul, M; Kakat, S; Banks, V; Franklin, R; ... Wray, J; + view all Brown, KL; Ridout, DA; Pagel, C; Lakhanpaul, M; Kakat, S; Banks, V; Franklin, R; Witter, T; Lakhani, R; Tibby, S; Anderson, D; Tsang, V; Hoskote, AU; Wray, J; - view fewer (2018) Validation of the Brief Developmental Assessment in pre-school children with heart disease. Cardiology in the Young , 28 (4) pp. 571-581. 10.1017/S1047951117002773.

Brunet Garcia, Laia; Hajra, Ankita; Field, Ella; Wacher, Joseph; Walsh, Helen; Norrish, Gabrielle; Manzur, Adnan; ... Cervi, Elena; + view all Brunet Garcia, Laia; Hajra, Ankita; Field, Ella; Wacher, Joseph; Walsh, Helen; Norrish, Gabrielle; Manzur, Adnan; Muntoni, Francesco; Munot, Pinki; Robb, Stephanie; Quinlivan, Rosaline; Scoto, Mariacristina; Baranello, Giovanni; Sarkozy, Anna; Starling, Luke; Kaski, Juan Pablo; Cervi, Elena; - view fewer (2022) Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort. Frontiers in Pediatrics , 10 , Article 910660. 10.3389/fped.2022.910660.

Brunklaus, Andreas; Bruenger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; ... Cestele, Sandrine; + view all Brunklaus, Andreas; Bruenger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nunez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M; Pysden, Karen; Russ-Hall, Sophie J; Scheffer, Ingrid E; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M; Lal, Dennis; Moller, Rikke S; Mantegazza, Massimo; Cestele, Sandrine; - view fewer (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain , 145 (11) pp. 3816-3831. 10.1093/brain/awac210.

Bruno, Claudia; Moumneh, Rayan; Sauvage, Emilie; Stronach, Lynsey; Waters, Kathryn; Simcock, Ian; Arthurs, Owen; ... Shroff, Rukshana; + view all Bruno, Claudia; Moumneh, Rayan; Sauvage, Emilie; Stronach, Lynsey; Waters, Kathryn; Simcock, Ian; Arthurs, Owen; Schievano, Silvia; Capelli, Claudio; Shroff, Rukshana; - view fewer (2022) Central Venous Catheter Malfunction in Children: A Bioengineering Approach. Clinical Journal of the American Society of Nephrology , 17 (7) , Article CJN.01470222. 10.2215/CJN.01470222.

Buck, S; Bastos, F; Baldeweg, T; Vargha-Khadem, F; (2020) The Pair Test: A computerised measure of learning and memory. Behavior Research Methods 10.3758/s13428-020-01470-9. (In press).

Buck, S; Bastos, F; Baldeweg, T; Vargha-Khadem, F; (2020) A Functional MRI Paradigm Suitable for Language and Memory Mapping in Pediatric Temporal Lobe Epilepsy. Frontiers in Neurology , 10 , Article 1384. 10.3389/fneur.2019.01384.

Budinger, D; Barral, S; Soo, AKS; Kurian, MA; (2021) The role of manganese dysregulation in neurological disease: emerging evidence. The Lancet Neurology , 20 (11) pp. 956-968. 10.1016/S1474-4422(21)00238-6.

Budinger, Dimitri; (2023) Elucidating the role of brain manganese in health and disease using a patient-derived neuronal model. Doctoral thesis (Ph.D), UCL (University College London).

Burgess, R; Wang, S; McTague, A; Boysen, KE; Yang, X; Zeng, Q; Myers, KA; ... Scheffer, IE; + view all Burgess, R; Wang, S; McTague, A; Boysen, KE; Yang, X; Zeng, Q; Myers, KA; Rochtus, A; Trivisano, M; Gill, D; Sadleir, LG; Specchio, N; Guerrini, R; Marini, C; Zhang, Y-H; Mefford, HC; Kurian, MA; Poduri, AH; Scheffer, IE; - view fewer (2019) Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Annals of Neurology , 86 (6) pp. 821-831. 10.1002/ana.25619.

Burgod, C; Mazlan, M; Pant, S; Krishnan, V; Garegrat, R; Montaldo, P; Muraleedharan, P; ... Thayyil, S; + view all Burgod, C; Mazlan, M; Pant, S; Krishnan, V; Garegrat, R; Montaldo, P; Muraleedharan, P; Bandiya, P; Kamalaratnam, CN; Chandramohan, R; Manerkar, S; Jahan, I; Moni, SC; Shahidullah, M; Rodrigo, R; Sumanasena, S; Sujatha, R; Sathyanathan, BP; Joshi, AR; Pressler, RR; Bassett, P; Shankaran, S; Thayyil, S; - view fewer (2023) Duration of birth depression and neurodevelopmental outcomes after whole-body hypothermia for hypoxic ischemic encephalopathy in India, Sri Lanka and Bangladesh – an exploratory analysis of the HELIX trial. The Lancet Regional Health - Southeast Asia , Article 100284. 10.1016/j.lansea.2023.100284. (In press).

Burke, G; Hiscock, A; Klein, A; Niks, EH; Main, M; Manzur, AY; Ng, J; ... Robb, S; + view all Burke, G; Hiscock, A; Klein, A; Niks, EH; Main, M; Manzur, AY; Ng, J; de Vile, C; Muntoni, F; Beeson, D; Robb, S; - view fewer (2013) Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders , 23 (2) 170 - 175. 10.1016/j.nmd.2012.11.004.

Bushby, K; Finkel, R; Wong, B; Barohn, R; Campbell, C; Comi, GP; Connolly, AM; ... McDonald, CM; + view all Bushby, K; Finkel, R; Wong, B; Barohn, R; Campbell, C; Comi, GP; Connolly, AM; Day, JW; Flanigan, KM; Goemans, N; Jones, KJ; Mercuri, E; Quinlivan, R; Renfroe, JB; Russman, B; Ryan, MM; Tulinius, M; Voit, T; Moore, SA; Sweeney, HL; Abresch, RT; Coleman, KL; Eagle, M; Florence, J; Gappmaier, E; Glanzman, AM; Henricson, E; Barth, J; Elfring, GL; Reha, A; Spiegel, RJ; O'Donnell, MW; Peltz, SW; McDonald, CM; - view fewer (2014) Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle and Nerve , 50 (4) pp. 477-487. 10.1002/mus.24332.

Buyse, GM; Rummey, C; Meier, T; Leinonen, M; Voit, T; McDonald, CM; Mayer, OH; (2018) Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystroph. Journal of Neuromuscular Diseases , 5 (4) pp. 419-430. 10.3233/JND-180338.

Buyse, GM; Voit, T; Schara, U; Straathof, CSM; D'Angelo, MG; Bernert, G; Cuisset, J-M; ... DELOS Study Group, .; + view all Buyse, GM; Voit, T; Schara, U; Straathof, CSM; D'Angelo, MG; Bernert, G; Cuisset, J-M; Finkel, RS; Goemans, N; Rummey, C; Leinonen, M; Mayer, OH; Spagnolo, P; Meier, T; McDonald, CM; DELOS Study Group, .; - view fewer (2017) Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy. Pediatric Pulmonology , 52 (4) pp. 508-515. 10.1002/ppul.23547.

Byrne, M; Aughwane, R; James, JL; Hutchinson, C; Arthurs, O; Sebire, N; Ourselin, S; ... Clark, AR; + view all Byrne, M; Aughwane, R; James, JL; Hutchinson, C; Arthurs, O; Sebire, N; Ourselin, S; David, AL; Melbourne, A; Clark, AR; - view fewer (2021) Structure-function relationships in the feto-placental circulation from in silico interpretation of micro-CT vascular structures. Journal of Theoretical Biology , 517 , Article 110630. 10.1016/j.jtbi.2021.110630.

C

Cacucci, F; Vargha-Khadem, F; (2019) Contributions of nonhuman primate research to understanding the consequences of human brain injury during development. Proceedings of the National Academy of Sciences of the United States of America , 116 (52) pp. 26204-26209. 10.1073/pnas.1912952116.

Caicedo, A; Papademetriou, MD; Elwell, CE; Hoskote, A; Elliott, MJ; Van Huffel, S; Tachtsidis, I; (2013) Canonical correlation analysis in the study of cerebral and peripheral haemodynamics interrelations with systemic variables in neonates supported on ECMO. Adv Exp Med Biol , 765 23 - 29. 10.1007/978-1-4614-4989-8_4.

Campbell, C; Barohn, RJ; Bertini, E; Chabrol, B; Comi, GP; Darras, BT; Finkel, RS; ... Clinical Evaluator Training Groups, .; + view all Campbell, C; Barohn, RJ; Bertini, E; Chabrol, B; Comi, GP; Darras, BT; Finkel, RS; Flanigan, KM; Goemans, N; Iannaccone, ST; Jones, KJ; Kirschner, J; Mah, JK; Mathews, KD; McDonald, CM; Mercuri, E; Nevo, Y; Péréon, Y; Renfroe, JB; Ryan, MM; Sampson, JB; Schara, U; Sejersen, T; Selby, K; Tulinius, M; Vílchez, JJ; Voit, T; Wei, L-J; Wong, BL; Elfring, G; Souza, M; McIntosh, J; Trifillis, P; Peltz, SW; Muntoni, F; PTC124-GD-007-DMD Study Group, .; ACT DMD Study Group, .; Clinical Evaluator Training Groups, .; - view fewer (2020) Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. Journal of Comparative Effectiveness Research , 9 (14) 10.2217/cer-2020-0095.

Capitanio, D; Moriggi, M; Torretta, E; Barbacini, P; De Palma, S; Vigano, A; Lochmueller, H; ... Gelfi, C; + view all Capitanio, D; Moriggi, M; Torretta, E; Barbacini, P; De Palma, S; Vigano, A; Lochmueller, H; Muntoni, F; Ferlini, A; Mora, M; Gelfi, C; - view fewer (2020) Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12527.

Capsomidis, A; Benthall, G; Van Acker, HH; Fisher, J; Kramer, AM; Abeln, Z; Majani, Y; ... Anderson, J; + view all Capsomidis, A; Benthall, G; Van Acker, HH; Fisher, J; Kramer, AM; Abeln, Z; Majani, Y; Gileadi, T; Wallace, R; Gustafsson, K; Flutter, B; Anderson, J; - view fewer (2017) Chimeric Antigen Receptor-Engineered Human Gamma Delta T Cells: Enhanced Cytotoxicity with Retention of Cross Presentation. Molecular Therapy 10.1016/j.ymthe.2017.12.001. (In press).

Cardenal-Muñoz, E; Auvin, S; Villanueva, V; Cross, JH; Zuberi, SM; Lagae, L; Aibar, JÁ; (2021) Guidance on Dravet Syndrome from Infant to Adult Care: Road Map for Treatment Planning in Europe. Epilepsia Open 10.1002/epi4.12569. (In press).

Carecchio, M; Invernizzi, F; Gonzàlez-Latapi, P; Panteghini, C; Zorzi, G; Romito, L; Leuzzi, V; ... Nardocci, N; + view all Carecchio, M; Invernizzi, F; Gonzàlez-Latapi, P; Panteghini, C; Zorzi, G; Romito, L; Leuzzi, V; Galosi, S; Reale, C; Zibordi, F; Joseph, AP; Topf, M; Piano, C; Bentivoglio, AR; Girotti, F; Morana, P; Morana, B; Kurian, MA; Garavaglia, B; Mencacci, NE; Lubbe, SJ; Nardocci, N; - view fewer (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Movement Disorders 10.1002/mds.27771. (In press).

Carmichael, P; Butler, G; Masic, U; Cole, TJ; De Stavola, BL; Davidson, S; Skageberg, EM; ... Viner, RM; + view all Carmichael, P; Butler, G; Masic, U; Cole, TJ; De Stavola, BL; Davidson, S; Skageberg, EM; Khadr, S; Viner, RM; - view fewer (2021) Short-term outcomes of pubertal suppression in a selected cohort of 12 to 15 year old young people with persistent gender dysphoria in the UK. PLoS One , 16 (2) , Article e0243894. 10.1371/journal.pone.0243894.

Carminho-Rodrigues, MT; Steel, D; Sousa, SB; Brandt, G; Guipponi, M; Laurent, S; Fokstuen, S; ... Bally, JF; + view all Carminho-Rodrigues, MT; Steel, D; Sousa, SB; Brandt, G; Guipponi, M; Laurent, S; Fokstuen, S; Moren, A; Zacharia, A; Dirren, E; Oliveira, R; Kurian, MA; Burkhard, PR; Bally, JF; - view fewer (2020) Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome). American Journal of Medical Genetics Part A , 182 (9) pp. 2129-2132. 10.1002/ajmg.a.61731.

Carneiro, MIS; Russo, C; Masson, R; Rossi Sebastiano, D; Baranello, G; Turati, C; Bolognini, N; (2020) Motor learning in unilateral cerebral palsy and the influence of corticospinal tract reorganization. European Journal of Paediatric Neurology , 27 pp. 49-59. 10.1016/j.ejpn.2020.04.013.

Carrington, Glenn; Hau, Hoi Ting Abbi; Kosta, Sarah; Dugdale, Hannah F; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter YK; ... Ochala, Julien; + view all Carrington, Glenn; Hau, Hoi Ting Abbi; Kosta, Sarah; Dugdale, Hannah F; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter YK; Romero, Norma B; Malfatti, Edoardo; Vilchez, Juan J; Oldfors, Anders; Pajusalu, Sander; Õunap, Katrin; Giralt-Pujol, Marta; Zanoteli, Edmar; Campbell, Kenneth S; Iwamoto, Hiroyuki; Peckham, Michelle; Ochala, Julien; - view fewer (2023) Human Skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI Insight , 8 (21) , Article e172322. 10.1172/jci.insight.172322.

Carroll, Jennifer H; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Val; Collinson, Avril; (2023) A core outcome set for childhood epilepsy treated with ketogenic diet therapy (CORE-KDT study): International parent and health professional consensus. Epilepsia , 64 (4) pp. 919-936. 10.1111/epi.17513.

Carroll, Jennifer H; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Valerie; Collinson, Avril; (2022) The CORE-KDT study: a mixed methods protocol to establish core outcomes for refractory childhood epilepsy treated with ketogenic diet therapy. Trials , 23 , Article 675. 10.1186/s13063-022-06629-7.

Carroll, Jennifer H; Martin-McGill, Kirsty J; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Val; Collinson, Avril; (2022) Core outcome set development for childhood epilepsy treated with ketogenic diet therapy: results of a scoping review and parent interviews. Seizure , 99 pp. 54-67. 10.1016/j.seizure.2022.05.009.

Casey, Triona; Thachuthara, Aoife Jones; Fogarty, Leanna; Livingstone, Vicki; De Haan, Michelle; Marlow, Neil; Kiely, Mairead E; Casey, Triona; Thachuthara, Aoife Jones; Fogarty, Leanna; Livingstone, Vicki; De Haan, Michelle; Marlow, Neil; Kiely, Mairead E; Murray, Deirdre M; - view fewer (2023) Validation of a touchscreen assessment tool to screen for cognitive delay at 24 months. Developmental Medicine & Child Neurology 10.1111/dmcn.15555.

Castro-Villablanca, Felipe; Moeller, Friederike; Pujar, Suresh; D'Arco, Felice; Scott, Rod C; Tahir, M Zubair; Tisdall, Martin; ... Eltze, Christin; + view all Castro-Villablanca, Felipe; Moeller, Friederike; Pujar, Suresh; D'Arco, Felice; Scott, Rod C; Tahir, M Zubair; Tisdall, Martin; Cross, J Helen; Eltze, Christin; - view fewer (2022) Seizure outcome determinants in children after surgery for single unilateral lesions on MRI: role of preoperative ictal and interictal EEG. Epilepsia , 63 (12) pp. 3168-3179. 10.1111/epi.17425.

Catapano, F; Domingos, J; Perry, M; Ricotti, V; Phillips, L; Servais, L; Seferian, A; ... Muntoni, F; + view all Catapano, F; Domingos, J; Perry, M; Ricotti, V; Phillips, L; Servais, L; Seferian, A; Groot, ID; Krom, YD; Niks, EH; Verschuuren, JJ; Straub, V; Voit, T; Morgan, J; Muntoni, F; - view fewer (2018) Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. Epigenomics , 10 (7) pp. 875-889. 10.2217/epi-2018-0022.

Catapano, F; Zaharieva, I; Scoto, M; Marrosu, E; Morgan, J; Muntoni, F; Zhou, H; (2016) Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy. Molecular Therapy-Nucleic Acids , 5 , Article e331. 10.1038/mtna.2016.47.

Cearns, MD; Hettige, S; De Coppi, P; Thompson, DNP; (2018) Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. Journal of Neurosurgery: Pediatrics , 22 (5) pp. 467-599. 10.3171/2018.5.PEDS17582.

Centeno, M; Tierney, TM; Perani, S; Shamshiri, EA; StPier, K; Wilkinson, C; Konn, D; ... Carmichael, D; + view all Centeno, M; Tierney, TM; Perani, S; Shamshiri, EA; StPier, K; Wilkinson, C; Konn, D; Banks, T; Vulliemoz, S; Lemieux, L; Pressler, RM; Clark, CA; Cross, H; Carmichael, D; - view fewer (2016) Optimising EEG-fMRI for Localisation of Focal Epilepsy in Children. PLoS One 10.1371/journal.pone.0149048.

Centeno, M; Tierney, TM; Perani, S; Shamshiri, EA; StPier, K; Wilkinson, C; Konn, D; ... Carmichael, DW; + view all Centeno, M; Tierney, TM; Perani, S; Shamshiri, EA; StPier, K; Wilkinson, C; Konn, D; Vulliemoz, S; Grouiller, F; Lemieux, L; Pressler, RM; Clark, CA; Cross, JH; Carmichael, DW; - view fewer (2017) Combined EEG-fMRI and ESI improves localisation of paediatric focal epilepsy. Annals of Neurology , 82 (2) pp. 278-287. 10.1002/ana.25003.

Cermakova, P; Pikhart, H; Ruiz, M; Kubinova, R; Bobak, M; (2020) Socioeconomic position in childhood and depressive symptoms in later adulthood in the Czech Republic. Journal of Affective Disorders , 272 pp. 17-23. 10.1016/j.jad.2020.03.099.

Chalia, Maria; Hartmann, Hans; Pressler, Ronit; (2022) Practical Approaches to the Treatment of Neonatal Seizures. Current Treatment Options in Neurology , 24 pp. 111-127. 10.1007/s11940-022-00711-w.

Chalkiadis, G; Goobie, S; Walker, S; (2019) Are opioids pediatric anesthesiologists' sword of Damocles? With great power comes great responsibility and risk. Pediatric Anesthesia , 29 (6) pp. 544-546. 10.1111/pan.13659.

Chan, AYL; Ge, M; Harrop, E; Johnson, M; Oulton, K; Skene, SS; Wong, I; ... LIOSSI, C; + view all Chan, AYL; Ge, M; Harrop, E; Johnson, M; Oulton, K; Skene, SS; Wong, I; Jamieson, E; Howard, LF; LIOSSI, C; - view fewer (2022) Pain assessment tools in paediatric palliative care: A systematic review of psychometric properties and recommendations for clinical practice. Palliative Medicine , 36 (1) pp. 30-43. 10.1177/02692163211049309.

Chan, S; Pressler, R; Boyd, SG; Baldeweg, T; Cross, JH; (2017) Does sleep benefit memory consolidation in children with focal epilepsy? Epilepsia , 58 (3) pp. 456-466. 10.1111/epi.13668.

Chan, Samantha Yuen-Sum; (2017) The contribution of sleep to cognitive function in children with epilepsy. Doctoral thesis (Ph.D), UCL (University College London).

Chan, YS; (2020) Sleep architecture and homeostasis in children with epilepsy: a neurodevelopmental perspective. Developmental Medicine and Child Neurology , 62 (4) pp. 426-433. 10.1111/dmcn.14437.

Chang, FC; Westenberger, A; Dale, RC; Smith, M; Pall, HS; Perez-Dueñas, B; Grattan-Smith, P; ... Fung, VS; + view all Chang, FC; Westenberger, A; Dale, RC; Smith, M; Pall, HS; Perez-Dueñas, B; Grattan-Smith, P; Ouvrier, RA; Mahant, N; Hanna, BC; Hunter, M; Lawson, JA; Max, C; Sachdev, R; Meyer, E; Crimmins, D; Pryor, D; Morris, JG; Münchau, A; Grozeva, D; Carss, KJ; Raymond, L; Kurian, MA; Klein, C; Fung, VS; - view fewer (2016) Phenotypic insights into ADCY5-associated disease. Movement Disorders , 31 (7) pp. 1033-1040. 10.1002/mds.26598.

Chang, P-S; Walker, SM; Fitzgerald, M; (2016) Differential Suppression of Spontaneous and Noxious-evoked Somatosensory Cortical Activity by Isoflurane in the Neonatal Rat. Anesthesiology , 124 (4) pp. 885-898. 10.1097/ALN.0000000000001017.

Charalambous, T; Clayden, JD; Powell, E; Prados, F; Tur, C; Kanber, B; Chard, D; ... Toosy, AT; + view all Charalambous, T; Clayden, JD; Powell, E; Prados, F; Tur, C; Kanber, B; Chard, D; Ourselin, S; Wheeler-Kingshott, CAMG; Thompson, AJ; Toosy, AT; - view fewer (2020) Disrupted principal network organisation in multiple sclerosis relates to disability. Scientific Reports , 10 , Article 3620. 10.1038/s41598-020-60611-4.

Charalambous, T; Prados Carrasco, F; Tur Gomez, C; Kanber, B; Ourselin, S; Chard, D; Clayden, JD; ... Toosy, A; + view all Charalambous, T; Prados Carrasco, F; Tur Gomez, C; Kanber, B; Ourselin, S; Chard, D; Clayden, JD; Wheeler-Kingshott, CAM; Thompson, AJ; Toosy, A; - view fewer (2018) Longitudinal Analysis Framework of DWI Data for Reconstructing Structural Brain Networks with Application to Multiple Sclerosis. In: Kaden, E and Grussu, F and Ning, L and Tax, CMW and Veraart, J, (eds.) Computational Diffusion MRI. (pp. pp. 205-218). Springer: Cham, Switzerland.

Charalambous, T; Tur, C; Prados, F; Kanber, B; Chard, DT; Ourselin, S; Clayden, JD; ... Toosy, AT; + view all Charalambous, T; Tur, C; Prados, F; Kanber, B; Chard, DT; Ourselin, S; Clayden, JD; A M Gandini Wheeler-Kingshott, C; Thompson, AJ; Toosy, AT; - view fewer (2019) Structural network disruption markers explain disability in multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry , 90 (2) pp. 219-226. 10.1136/jnnp-2018-318440.

Chareyron, Loic J; Chong, WK Kling; Banks, Tina; Burgess, Neil; Saunders, Richard C; Vargha-Khadem, Faraneh; (2024) Anatomo-functional changes in neural substrates of cognitive memory in developmental amnesia: Insights from automated and manual Magnetic Resonance Imaging examinations. Hippocampus , 34 (11) pp. 645-658. 10.1002/hipo.23638.

Chari, A; Budhdeo, S; Sparks, R; Barone, DG; Marcus, HJ; Pereira, EAC; Tisdall, MM; (2021) Brain–Machine Interfaces: The Role of the Neurosurgeon. World Neurosurgery , 146 pp. 140-147. 10.1016/j.wneu.2020.11.028.

Chari, A; Sedlacik, J; Seunarine, K; Piper, RJ; Hales, P; Shmueli, K; Mankad, K; ... Carmichael, DW; + view all Chari, A; Sedlacik, J; Seunarine, K; Piper, RJ; Hales, P; Shmueli, K; Mankad, K; Löbel, U; Eltze, C; Moeller, F; Scott, RC; Tisdall, MM; Cross, JH; Carmichael, DW; - view fewer (2023) Epileptogenic Tubers Are Associated with Increased Kurtosis of Susceptibility Values: A Combined Quantitative Susceptibility Mapping and Stereoelectroencephalography Pilot Study. American Journal of Neuroradiology 10.3174/ajnr.A7929. (In press).

Chari, Aswin; Adler, Sophie; Wagstyl, Konrad; Seunarine, Kiran; Tahir, M Zubair; Moeller, Friederike; Thornton, Rachel; ... Tisdall, Martin M; + view all Chari, Aswin; Adler, Sophie; Wagstyl, Konrad; Seunarine, Kiran; Tahir, M Zubair; Moeller, Friederike; Thornton, Rachel; Boyd, Steward; Das, Krishna; Cooray, Gerald; Smith, Stuart; D'Arco, Felice; Baldeweg, Torsten; Eltze, Christin; Cross, J Helen; Tisdall, Martin M; - view fewer (2023) Lesion detection in epilepsy surgery: Lessons from a prospective evaluation of a machine learning algorithm. Developmental Medicine & Child Neurology 10.1111/dmcn.15727. (In press).

Chari, Aswin; Seunarine, Kiran K; He, Xiaosong; Tisdall, Martin M; Clark, Christopher A; Bassett, Dani S; Scott, Rod C; Chari, Aswin; Seunarine, Kiran K; He, Xiaosong; Tisdall, Martin M; Clark, Christopher A; Bassett, Dani S; Scott, Rod C; Rosch, Richard E; - view fewer (2022) Drug-resistant focal epilepsy in children is associated with increased modal controllability of the whole brain and epileptogenic regions. Communications Biology , 5 , Article 394. 10.1038/s42003-022-03342-8.

Chari, A; (2021) The UK experience of stereoelectroencephalography in children: An analysis of factors predicting the identification of a seizure-onset zone and subsequent seizure freedom. Epilepsia 10.1111/epi.16954. (In press).

Chari, A; Hocking, KC; Edlmann, E; Turner, C; Santarius, T; Hutchinson, PJ; Kolias, AG; (2016) Core Outcomes and Common Data Elements in Chronic Subdural Hematoma: A Systematic Review of the Literature Focusing on Baseline and Peri-Operative Care Data Elements. Journal of Neurotrauma , 33 (17) pp. 1569-1575. 10.1089/neu.2015.4248.

Chari, A; Mallucci, C; Whitelaw, A; Aquilina, K; (2021) Intraventricular haemorrhage and posthaemorrhagic ventricular dilatation: moving beyond CSF diversion. Child's Nervous System 10.1007/s00381-021-05206-8. (In press).

Chari, A; Thornton, RC; Tisdall, MM; Scott, RC; (2020) Microelectrode recordings in human epilepsy: a case for clinical translation. Brain Communications , 2 (2) , Article fcaa082. 10.1093/braincomms/fcaa082.

Chari, A; Tisdall, MM; Marcus, HJ; (2020) Letter to the Editor. Systematic and safe approaches to innovation in pediatric pinning. Journal of Neurosurgery: Pediatrics , 26 (5) pp. 601-602. 10.3171/2020.5.PEDS20375.

Chesshyre, Mary; Ridout, Deborah; Hashimoto, Yasumasa; Ookubo, Yoko; Torelli, Silvia; Maresh, Kate; Ricotti, Valeria; ... Muntoni, Francesco; + view all Chesshyre, Mary; Ridout, Deborah; Hashimoto, Yasumasa; Ookubo, Yoko; Torelli, Silvia; Maresh, Kate; Ricotti, Valeria; Abbott, Lianne; Gupta, Vandana Ayyar; Main, Marion; Ferrari, Giulia; Kowala, Anna; Lin, Yung-Yao; Tedesco, Francesco Saverio; Scoto, Mariacristina; Baranello, Giovanni; Manzur, Adnan; Aoki, Yoshitsugu; Muntoni, Francesco; - view fewer (2022) Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12914.

Chieffo, Daniela PR; Moriconi, Federica; Pane, Marika; Lucibello, Simona; Ferraroli, Elisabetta; Norcia, Giulia; Ricci, Martina; ... Mercuri, Eugenio; + view all Chieffo, Daniela PR; Moriconi, Federica; Pane, Marika; Lucibello, Simona; Ferraroli, Elisabetta; Norcia, Giulia; Ricci, Martina; Capasso, Anna; Cicala, Gianpaolo; Buchignani, Bianca; Coratti, Giorgia; Cutrona, Costanza; Pelizzari, Monia; Brogna, Claudia; Hendriksen, Jos GM; Muntoni, Francesco; Mercuri, Eugenio; - view fewer (2023) A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? Journal of Clinical Medicine , 12 (2) , Article 403. 10.3390/jcm12020403.

Chiriboga, Claudia A; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; ... JEWELFISH Study Group; + view all Chiriboga, Claudia A; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Jaber, Birgit; Gorni, Ksenija; Kletzl, Heidemarie; Carruthers, Imogen; Martin, Carmen; Scalco, Renata S; Fontoura, Paulo; Muntoni, Francesco; JEWELFISH Study Group; - view fewer (2024) JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of Neurology 10.1007/s00415-024-12318-z. (In press).

Chiriboga, Claudia A; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; ... JEWELFISH Study Group; + view all Chiriboga, Claudia A; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Jaber, Birgit; Gorni, Ksenija; Kletzl, Heidemarie; Carruthers, Imogen; Martin, Carmen; Warren, Francis; Scalco, Renata S; Wagner, Kathryn R; Muntoni, Francesco; JEWELFISH Study Group; - view fewer (2023) Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy , 12 pp. 543-557. 10.1007/s40120-023-00444-1.

Choi, EJ; Levin, D; Robertson, A; Kirkham, FJ; Muthusami, P; Krishnan, P; Shroff, M; ... Dlamini, N; + view all Choi, EJ; Levin, D; Robertson, A; Kirkham, FJ; Muthusami, P; Krishnan, P; Shroff, M; Moharir, M; Dirks, P; MacGregor, D; Pulcine, E; Bhathal, I; Kassner, A; Walker, K; Allan, W; deVeber, G; Logan, WJ; Dlamini, N; - view fewer (2024) Assessment of MR blood-oxygen-level-dependent (BOLD) cerebrovascular reactivity under general anesthesia in children with moyamoya. Pediatric Radiology , 54 pp. 1325-1336. 10.1007/s00247-024-05930-8.

Choi, Eun Jung; Westmacott, Robyn; Kirkham, Fenella J; Robertson, Amanda; Muthusami, Prakash; Shroff, Manohar; Moharir, Mahendranath; ... Dlamini, Nomazulu; + view all Choi, Eun Jung; Westmacott, Robyn; Kirkham, Fenella J; Robertson, Amanda; Muthusami, Prakash; Shroff, Manohar; Moharir, Mahendranath; Williams, Tricia; Dirks, Peter; MacGregor, Daune; Slim, Mahmoud; Pulcine, Elizabeth; Bhathal, Ishvinder; Kaseka, Matsanga Leyila; Kassner, Andrea; Logan, William; deVeber, Gabrielle; Dlamini, Nomazulu; - view fewer (2022) Fronto-Parietal and White Matter Haemodynamics Predict Cognitive Outcome in Children with Moyamoya Independent of Stroke. Translational Stroke Research , 13 pp. 757-773. 10.1007/s12975-022-01003-w.

Choudhury, P; Spaull, R; Amin, S; Mallick, AA; Patel, JS; O'Callaghan, F; Lux, AL; (2020) Prophylactic Antiepileptic Treatment in Tuberous Sclerosis. Pediatric Neurology , 110 pp. 100-101. 10.1016/j.pediatrneurol.2020.03.017.

Chu, Wing Sum; Ng, Joanne; Waddington, Simon N; Kurian, Manju A; (2024) Gene therapy for neurotransmitter-related disorders. Journal of Inherited Metabolic Diseases , 47 (1) pp. 176-191. 10.1002/jimd.12697.

Cif, L; Demailly, D; Lin, J-P; Barwick, KE; Sa, M; Abela, L; Malhotra, S; ... Kurian, MA; + view all Cif, L; Demailly, D; Lin, J-P; Barwick, KE; Sa, M; Abela, L; Malhotra, S; Chong, WK; Steel, D; Sanchis-Juan, A; Ngoh, A; Trump, N; Meyer, E; Vasques, X; Rankin, J; Allain, MW; Applegate, CD; Attaripour Isfahani, S; Baleine, J; Balint, B; Bassetti, JA; Baple, EL; Bhatia, KP; Blanchet, C; Burglen, L; Cambonie, G; Seng, EC; Bastaraud, SC; Cyprien, F; Coubes, C; d'Hardemare, V; Deciphering Developmental Disorders Study; Doja, A; Dorison, N; Doummar, D; Dy-Hollins, ME; Farrelly, E; Fitzpatrick, DR; Fearon, C; Fieg, EL; Fogel, BL; Forman, EB; Fox, RG; Genomics England Research Consortium; Gahl, WA; Galosi, S; Gonzalez, V; Graves, TD; Gregory, A; Hallett, M; Hasegawa, H; Hayflick, SJ; Hamosh, A; Hully, M; Jansen, S; Jeong, SY; Krier, JB; Krystal, S; Kumar, KR; Laurencin, C; Lee, H; Lesca, G; François, LL; Lynch, T; Mahant, N; Martinez-Agosto, JA; Milesi, C; Mills, KA; Mondain, M; Morales-Briceno, H; NIHR BioResource; Ostergaard, JR; Pal, S; Pallais, JC; Pavillard, F; Perrigault, P-F; Petersen, AK; Polo, G; Poulen, G; Rinne, T; Roujeau, T; Rogers, C; Roubertie, A; Sahagian, M; Schaefer, E; Selim, L; Selway, R; Sharma, N; Signer, R; Soldatos, AG; Stevenson, DA; Stewart, F; Tchan, M; Undiagnosed Diseases Network; Verma, IC; de Vries, BBA; Wilson, JL; Wong, DA; Zaitoun, R; Zhen, D; Znaczko, A; Dale, RC; de Gusmão, CM; Friedman, J; Fung, VSC; King, MD; Mohammad, SS; Rohena, L; Waugh, JL; Toro, C; Raymond, FL; Topf, M; Coubes, P; Gorman, KM; Kurian, MA; - view fewer (2020) KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain , 143 (11) pp. 3242-3261. 10.1093/brain/awaa304.

Cif, Laura; Demailly, Diane; Vasques, Xavier; de Verbizier, Delphine; Coubes, Philippe; Gorman, Kathleen; Kurian, Manju A; (2022) Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT-KMT2B Patients with Evidence of Striatonigral Degeneration. Movement Disorders Clinical Practice 10.1002/mdc3.13519. (In press).

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; ... Muntoni, F; + view all Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; Brodd, L; Kamynina, A; Vondracek, P; Roper, H; Longman, C; Korinthenberg, R; Marrosu, G; Nürnberg, P; UK10K Consortium; Michele, DE; Plagnol, V; Hurles, M; Moore, SA; Sewry, CA; Campbell, KP; Voit, T; Muntoni, F; - view fewer (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/brain/aws312.

Clark, CA; Fosi, T; Chu, C; Chong, W; Scott, R; Boyd, S; Neville, B; (2015) Quantitative MRI evidence for altered structural remodelling of the temporal lobe in cryptogenic West syndrome. Epilsepsia , 56 (4) pp. 608-616. 10.1111/epi.12907.

Clark, DJ; Chakraborty, A; Roebuck, DJ; Thompson, DNP; (2016) Ultrasound guided placement of the distal catheter in paediatric ventriculoatrial shunts—an appraisal of efficacy and complications. Child's Nervous System , 32 (7) pp. 1219-1225. 10.1007/s00381-016-3120-4.

Clayden, JD; (2008) Comparative analysis of connection and disconnection in the human brain using diffusion MRI: New methods and applications. Doctoral thesis , UNSPECIFIED.

Clayden, J; Thomas, D; Kraskov, A; (2019) Tractography-based parcellation does not provide strong evidence of anatomical organisation within the thalamus. NeuroImage , 199 pp. 418-426. 10.1016/j.neuroimage.2019.06.019.

Clayden, JD; Dayan, M; Clark, CA; (2013) Principal networks. PLoS One , 8 (4) , Article e60997. 10.1371/journal.pone.0060997.

Clayden, JD; Nagy, Z; Weiskopf, N; Alexander, DC; Clark, CA; (2016) Microstructural parameter estimation in vivo using diffusion MRI and structured prior information. Magnetic Resonance in Medicine , 75 (4) pp. 1787-1796. 10.1002/mrm.25723.

Clayton, LM; Balestrini, S; Cross, JH; Wilson, G; Eldred, C; Evans, H; Koepp, MJ; Clayton, LM; Balestrini, S; Cross, JH; Wilson, G; Eldred, C; Evans, H; Koepp, MJ; Sisodiya, SM; - view fewer (2021) The impact of SARS-CoV-2 vaccination in Dravet Syndrome: A UK survey. Epilepsy & Behavior , 124 , Article 108258. 10.1016/j.yebeh.2021.108258.

Coenen-Stass, AM; Betts, CA; Lee, YF; Mäger, I; Turunen, MP; El Andaloussi, S; Morgan, JE; ... Roberts, TC; + view all Coenen-Stass, AM; Betts, CA; Lee, YF; Mäger, I; Turunen, MP; El Andaloussi, S; Morgan, JE; Wood, MJ; Roberts, TC; - view fewer (2016) Selective release of muscle-specific, extracellular microRNAs during myogenic differentiation. Human Molecular Genetics , 25 (18) pp. 3960-3974. 10.1093/hmg/ddw237.

Cohen, Nathan T; You, Xiaozhen; Krishnamurthy, Manu; Sepeta, Leigh N; Zhang, Anqing; Oluigbo, Chima; Whitehead, Matthew T; ... Multi-centre Epilepsy Lesion Detection (MELD) Project, .; + view all Cohen, Nathan T; You, Xiaozhen; Krishnamurthy, Manu; Sepeta, Leigh N; Zhang, Anqing; Oluigbo, Chima; Whitehead, Matthew T; Gholipour, Taha; Baldeweg, Torsten; Wagstyl, Konrad; Adler, Sophie; Gaillard, William D; Multi-centre Epilepsy Lesion Detection (MELD) Project, .; - view fewer (2022) Networks underlie temporal onset of dysplasia-related epilepsy- a MELD study. Annals of Neurology , 92 (3) pp. 503-511. 10.1002/ana.26442.

Cohen, NT; Cross, JH; Arzimanoglou, A; Berkovic, SF; Kerrigan, JF; Miller, IP; Webster, E; ... Hypothalamic Hamartoma writing group; + view all Cohen, NT; Cross, JH; Arzimanoglou, A; Berkovic, SF; Kerrigan, JF; Miller, IP; Webster, E; Soeby, L; Cukiert, A; Hesdorffer, DK; Kroner, BL; Saper, CB; Schulze-Bonhage, A; Gaillard, WD; Hypothalamic Hamartoma writing group; - view fewer (2021) Hypothalamic Hamartomas: Evolving Understanding and Management. Neurology , 97 (18) pp. 864-873. 10.1212/WNL.0000000000012773.

Cohen, JM; Khandavilli, S; Camberlein, E; Hyams, C; Baxendale, HE; Brown, JS; (2011) Protective Contributions against Invasive Streptococcus pneumoniae Pneumonia of Antibody and Th17-Cell Responses to Nasopharyngeal Colonisation. PLoS.One , 6 (10) , Article e25558. 10.1371/journal.pone.0025558.

Cohen, RT; Rodeghier, M; Kirkham, FJ; Rosen, CL; Kirkby, J; DeBaun, MR; Strunk, RC; (2016) Exhaled nitric oxide: Not associated with asthma, symptoms, or spirometry in children with sickle cell anemia. Journal of Allergy and Clinical Immunology , 138 (5) 1338-1343.e4. 10.1016/j.jaci.2016.06.043.

Cohen, RT; Strunk, RC; Rodeghier, M; Rosen, CL; Kirkham, FJ; Kirkby, J; DeBaun, MR; (2016) Pattern of Lung Function Is Not Associated with Prior or Future Morbidity in Children with Sickle Cell Anemia. Annals of the American Thoracic Society , 13 (8) pp. 1314-1323. 10.1513/AnnalsATS.201510-706OC.

Cole, TJ; Pan, H; Butler, GE; (2014) A mixed effects model to estimate timing and intensity of pubertal growth from height and secondary sexual characteristics. Annals of Human Biology , 41 (1) 76 - 83. 10.3109/03014460.2013.856472.

Collins, CA; Gnocchi, VF; White, RB; Boldrin, L; Perez-Ruiz, A; Relaix, F; Morgan, JE; Collins, CA; Gnocchi, VF; White, RB; Boldrin, L; Perez-Ruiz, A; Relaix, F; Morgan, JE; Zammit, PS; - view fewer (2009) Integrated Functions of Pax3 and Pax7 in the Regulation of Proliferation, Cell Size and Myogenic Differentiation. PLOS ONE , 4 (2) , Article e4475. 10.1371/journal.pone.0004475.

Collins, CDE; Hartley, JC; Chakraborty, A; Thompson, DNP; (2014) Long subcutaneous tunnelling reduces infection rates in paediatric external ventricular drains. Child's Nervous System , 30 (10) pp. 1671-1678. 10.1007/s00381-014-2523-3.

Composto, A; Privitera, L; Riva, M; Ardini, B; Manzoni, C; Riva, M; Aquilina, K; ... Giuliani, S; + view all Composto, A; Privitera, L; Riva, M; Ardini, B; Manzoni, C; Riva, M; Aquilina, K; Valentini, G; Giuliani, S; - view fewer (2025) Hyperspectral imaging for tumor resection guidance in surgery: a systematic review of preclinical and clinical studies. Journal of Biomedical Optics , 30 (S 2) , Article S23909. 10.1117/1.JBO.30.S2.S23909.

Cooper, Hannah E; Halliday, Lorna F; Bamiou, Doris-Eva; Mankad, Kshitij; Clark, Christopher A; (2022) Brain structure correlates with auditory function in children diagnosed with auditory neuropathy spectrum disorder. Brain Behavior , Article e2773. 10.1002/brb3.2773. (In press).

Cooper, JM; Gadian, DG; Jentschke, S; Goldman, A; Munoz, M; Pitts, G; Banks, T; ... Vargha-Khadem, F; + view all Cooper, JM; Gadian, DG; Jentschke, S; Goldman, A; Munoz, M; Pitts, G; Banks, T; Chong, WK; Hoskote, A; Deanfield, J; Baldeweg, T; de Haan, M; Mishkin, M; Vargha-Khadem, F; - view fewer (2015) Neonatal Hypoxia, Hippocampal Atrophy, and Memory Impairment: Evidence of a Causal Sequence. Cereb Cortex , 25 (6) pp. 1469-1476. 10.1093/cercor/bht332.

Cooper, H; (2017) Neurodevelopment of children at risk of hearing and communication problems. Doctoral thesis , UCL (University College London).

Cooper, HE; Kaden, E; Halliday, LF; Bamiou, D-E; Mankad, K; Peters, C; Clark, CA; (2019) White matter microstructural abnormalities in children with severe congenital hypothyroidism. NeuroImage: Clinical , 24 , Article 101980. 10.1016/j.nicl.2019.101980.

Coppola, A; Cellini, E; Stamberger, H; Saarentaus, E; Cetica, V; Lal, D; Djémié, T; ... EpiCNV Consortium, .; + view all Coppola, A; Cellini, E; Stamberger, H; Saarentaus, E; Cetica, V; Lal, D; Djémié, T; Bartnik-Glaska, M; Ceulemans, B; Helen Cross, J; Deconinck, T; Masi, SD; Dorn, T; Guerrini, R; Hoffman-Zacharska, D; Kooy, F; Lagae, L; Lench, N; Lemke, JR; Lucenteforte, E; Madia, F; Mefford, HC; Morrogh, D; Nuernberg, P; Palotie, A; Schoonjans, A-S; Striano, P; Szczepanik, E; Tostevin, A; Vermeesch, JR; Esch, HV; Paesschen, WV; Waters, JJ; Weckhuysen, S; Zara, F; Jonghe, PD; Sisodiya, SM; Marini, C; EuroEPINOMICS-RES Consortium, .; EpiCNV Consortium, .; - view fewer (2019) Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 10.1111/epi.14683. (In press).

Coratti, G; Messina, S; Lucibello, S; Pera, MC; Montes, J; Pasternak, A; Stat, FB; ... Mercuri, E; + view all Coratti, G; Messina, S; Lucibello, S; Pera, MC; Montes, J; Pasternak, A; Stat, FB; Escudero, JE; Mazzone, ES; Mayhew, A; Glanzman, AM; Young, SD; Salazar, R; Duong, T; Lofra, RM; de Sanctis, R; Carnicella, S; Milev, E; Civitello, M; Pane, M; Scoto, M; Bettolo, CM; Antonaci, L; Frongia, A; Sframeli, M; Vita, GL; D'Amico, A; van den Hauwe, M; Albamonte, E; Goemans, N; Darras, BT; Bertini, E; Sansone, V; Day, J; Osorio, AN; Bruno, C; Muntoni, F; De Vivo, DC; Finkel, RS; Mercuri, E; - view fewer (2020) Clinical variability in spinal muscular atrophy type III. Annals of Neurology , 88 (6) pp. 1109-117. 10.1002/ana.25900.

Coratti, G; Pera, MC; Montes, J; Pasternak, A; Scoto, M; Baranello, G; Messina, S; ... Mercuri, E; + view all Coratti, G; Pera, MC; Montes, J; Pasternak, A; Scoto, M; Baranello, G; Messina, S; Dunaway Young, S; Glanzman, AM; Duong, T; de Sanctis, R; Mazzone, ES; Milev, E; Rohwer, A; Civitello, M; Pane, M; Antonaci, L; Frongia, AL; Sframeli, M; Vita, GL; D'Amico, A; Mizzoni, I; Albamonte, E; Darras, BT; Bertini, E; Sansone, VA; Bovis, F; Day, J; Bruno, C; Muntoni, F; De Vivo, DC; Finkel, R; Mercuri, E; - view fewer (2021) Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle & Nerve , 64 (5) pp. 552-559. 10.1002/mus.27384.

Coratti, Giorgia; Bovis, Francesca; Pera, Maria Carmela; Scoto, Mariacristina; Montes, Jacqueline; Pasternak, Amy; Mayhew, Anna; ... Mercuri, Eugenio; + view all Coratti, Giorgia; Bovis, Francesca; Pera, Maria Carmela; Scoto, Mariacristina; Montes, Jacqueline; Pasternak, Amy; Mayhew, Anna; Muni-Lofra, Robert; Duong, Tina; Rohwer, Annemarie; Dunaway Young, Sally; Civitello, Matthew; Salmin, Francesca; Mizzoni, Irene; Morando, Simone; Pane, Marika; Albamonte, Emilio; D'Amico, Adele; Brolatti, Noemi; Sframeli, Maria; Marini-Bettolo, Chiara; Sansone, Valeria Ada; Bruno, Claudio; Messina, Sonia; Bertini, Enrico; Baranello, Giovanni; Day, John; Darras, Basil T; De Vivo, Darryl C; Hirano, Michio; Muntoni, Francesco; Finkel, Richard; Mercuri, Eugenio; - view fewer (2024) Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study. European Journal of Neurology 10.1111/ene.16309. (In press).

Coratti, G; Lucibello, S; Pera, MC; Duong, T; Muni Lofra, R; Civitello, M; D'Amico, A; ... ISMAC group; + view all Coratti, G; Lucibello, S; Pera, MC; Duong, T; Muni Lofra, R; Civitello, M; D'Amico, A; Goemans, N; Darras, BT; Bruno, C; Sansone, VA; Day, J; Nascimento Osorio, A; Muntoni, F; Montes, J; Sframeli, M; Finkel, R; Mercuri, E; ISMAC group; - view fewer (2020) Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscular Disorders , 30 (9) pp. 765-771. 10.1016/j.nmd.2020.07.004.

Coratti, G; Pane, M; Brogna, C; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; ... on behalf on the International DMD Group and the iMDEX Consortiu; + view all Coratti, G; Pane, M; Brogna, C; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; Vita, G; Berardinelli, A; Mazzone, E; Magri, F; Ricci, F; Mongini, T; Battini, R; Bello, L; Pegoraro, E; Baranello, G; Previtali, SC; Politano, L; Comi, GP; Sansone, VA; Donati, A; Hogrel, JY; Straub, V; De Lucia, S; Niks, E; Servais, L; De Groot, I; Chesshyre, M; Bertini, E; Goemans, N; Muntoni, F; Mercuri, E; on behalf on the International DMD Group and the iMDEX Consortiu; - view fewer (2021) North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up. PLoS One , 16 (6) , Article e0253882. 10.1371/journal.pone.0253882.

Coratti, G; Pera, MC; Lucibello, S; Montes, J; Pasternak, A; Mayhew, A; Glanzman, AM; ... Mercuri, E; + view all Coratti, G; Pera, MC; Lucibello, S; Montes, J; Pasternak, A; Mayhew, A; Glanzman, AM; Young, SD; Pane, M; Scoto, M; Messina, S; Goemans, N; Osorio, AN; Pedemonte, M; Sansone, V; Bertini, E; De Vivo, DC; Finkel, R; Muntoni, F; Mercuri, E; - view fewer (2020) Age and baseline values predict 12 and 24-month functional changes in type 2 SMA. Neuromuscular Disorders , 30 (9) pp. 756-764. 10.1016/j.nmd.2020.07.005.

Corbet Burcher, G; Liang, H; Lancaster, R; Cross, JH; Tisdall, M; Varadkar, S; Spoudeas, HA; ... Heyman, I; + view all Corbet Burcher, G; Liang, H; Lancaster, R; Cross, JH; Tisdall, M; Varadkar, S; Spoudeas, HA; Caredda, E; Bennett, S; Heyman, I; - view fewer (2019) Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. Developmental Medicine and Child Neurology , 61 (12) pp. 1377-1385. 10.1111/dmcn.14241.

Corcoles-Parada, M; Gimenez-Mateo, R; Serrano-del-Pueblo, V; Lopez, L; Perez-Hernandez, E; Mansilla, F; Martinez, A; ... Munoz-Lopez, M; + view all Corcoles-Parada, M; Gimenez-Mateo, R; Serrano-del-Pueblo, V; Lopez, L; Perez-Hernandez, E; Mansilla, F; Martinez, A; Onsurbe, I; San Roman, P; Ubero-Martinez, M; Clayden, JD; Clark, CA; Munoz-Lopez, M; - view fewer (2019) Born Too Early and Too Small: Higher Order Cognitive Function and Brain at Risk at Ages 8-16. Frontiers in Psychology , 10 , Article 1942. 10.3389/fpsyg.2019.01942.

Corlette, Sebastian J; Walker, Suellen M; Cornelissen, Laura; Brasher, Christopher; Bower, Janeen; Davidson, Andrew J; (2024) Changes in the term neonatal electroencephalogram with general anesthesia – a systematic review with narrative synthesis. Anesthesiology 10.1097/aln.0000000000005088. (In press).

Cormack, F; Vargha-Khadem, F; Wood, SJ; Cross, JH; Baldeweg, T; (2012) Memory in paediatric temporal lobe epilepsy: effects of lesion type and side. Epilepsy Research , 98 (2-3) 255 - 259. 10.1016/j.eplepsyres.2011.09.004.

Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; ... paediatric UK risdiplam EAMS working group, .; + view all Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni; paediatric UK risdiplam EAMS working group, .; - view fewer (2024) Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain. Journal of Neuromuscular Diseases , 11 (2) pp. 361-368. 10.3233/JND-230162.

Cornett, KM; Menezes, MP; Bray, P; Halaki, M; Shy, RR; Yum, SW; Estilow, T; ... Inherited Neuropathies Consortium; + view all Cornett, KM; Menezes, MP; Bray, P; Halaki, M; Shy, RR; Yum, SW; Estilow, T; Moroni, I; Foscan, M; Pagliano, E; Pareyson, D; Laurá, M; Bhandari, T; Muntoni, F; Reilly, MM; Finkel, RS; Sowden, J; Eichinger, KJ; Herrmann, DN; Shy, ME; Burns, J; Inherited Neuropathies Consortium; - view fewer (2016) Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. JAMA Neurology , 73 (6) pp. 645-651. 10.1001/jamaneurol.2016.0171.

Cornett, KM; Menezes, MP; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; Estilow, T; ... CMTPedS Study Group, .; + view all Cornett, KM; Menezes, MP; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; Estilow, T; Yum, SW; Bhandari, T; Muntoni, F; Laura, M; Reilly, MM; Finkel, RS; Eichinger, KJ; Herrmann, DN; Bray, P; Halaki, M; Shy, ME; Burns, J; CMTPedS Study Group, .; - view fewer (2017) Natural history of Charcot-Marie-Tooth disease during childhood. Annals of Neurology , 82 (3) pp. 353-359. 10.1002/ana.25009.

Cornett, KMD; Menezes, MP; Bray, P; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; ... CMTPedS Study Group, .; + view all Cornett, KMD; Menezes, MP; Bray, P; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; Estilow, T; Yum, SW; Bhandari, T; Muntoni, F; Laura, M; Reilly, MM; Finkel, RS; Eichinger, KJ; Herrmann, DN; Shy, ME; Burns, J; CMTPedS Study Group, .; - view fewer (2020) Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS. Annals of Clinical and Translational Neurology , 7 (9) pp. 1713-1715. 10.1002/acn3.51145.

Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; ... Zuchner, S; + view all Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; Bai, Y; Bis-Brewer, DM; Bugiardini, E; Buglo, E; Danzi, MC; Feely, SME; Athanasiou-Fragkouli, A; Haridy, NA; Inherited Neuropathy Consortium; Isasi, R; Khan, A; Laurà, M; Magri, S; Pipis, M; Pisciotta, C; Powell, E; Rossor, AM; Saveri, P; Sowden, JE; Tozza, S; Vandrovcova, J; Dallman, J; Grignani, E; Marchioni, E; Scherer, SS; Tang, B; Lin, Z; Al-Ajmi, A; Schüle, R; Synofzik, M; Maisonobe, T; Stojkovic, T; Auer-Grumbach, M; Abdelhamed, MA; Hamed, SA; Zhang, R; Manganelli, F; Santoro, L; Taroni, F; Pareyson, D; Houlden, H; Herrmann, DN; Reilly, MM; Shy, ME; Zhai, RG; Zuchner, S; - view fewer (2020) Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics , 52 , Article 640. 10.1038/s41588-020-0649-7.

Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; ... Zuchner, S; + view all Cortese, A; Zhu, Y; Rebelo, AP; Negri, S; Courel, S; Abreu, L; Bacon, CJ; Bai, Y; Bis-Brewer, DM; Bugiardini, E; Buglo, E; Danzi, MC; Feely, SME; Athanasiou-Fragkouli, A; Haridy, NA; Isasi, R; Khan, A; Laura, M; Magri, S; Pipis, M; Pisciotta, C; Powell, E; Rossor, AM; Saveri, P; Sowden, JE; Tozza, S; Vandrovcova, J; Dallman, J; Grignani, E; Marchioni, E; Scherer, SS; Tang, B; Lin, Z; Al-Ajmi, A; Schuele, R; Synofzik, M; Maisonobe, T; Stojkovic, T; Auer-Grumbach, M; Abdelhamed, MA; Hamed, SA; Zhang, R; Manganelli, F; Santoro, L; Taroni, F; Pareyson, D; Houlden, H; Herrmann, DN; Reilly, MM; Shy, ME; Zhai, RG; Zuchner, S; - view fewer (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics , 52 pp. 473-481. 10.1038/s41588-020-0615-4.

Cossu, G; Birchall, M; Brown, T; De Coppi, P; Culme-Seymour, E; Gibbon, S; Hitchcock, J; ... Wilson, JGS; + view all Cossu, G; Birchall, M; Brown, T; De Coppi, P; Culme-Seymour, E; Gibbon, S; Hitchcock, J; Mason, C; Montgomery, J; Morris, S; Muntoni, F; Napier, D; Owji, N; Prasad, A; Round, J; Saprai, P; Stilgoe, J; Thrasher, A; Wilson, JGS; - view fewer (2018) Lancet Commission: Stem Cells and Regenerative Medicine. The Lancet , 391 (10123) pp. 883-910. 10.1016/S0140-6736(17)31366-1.

Counsell, JR; Asgarian, Z; Meng, J; Ferrer, V; Vink, CA; Howe, SJ; Waddington, SN; ... Danos, O; + view all Counsell, JR; Asgarian, Z; Meng, J; Ferrer, V; Vink, CA; Howe, SJ; Waddington, SN; Thrasher, AJ; Muntoni, F; Morgan, JE; Danos, O; - view fewer (2017) Lentiviral vectors can be used for full-length dystrophin gene therapy. Scientific Reports , 7 , Article 44775. 10.1038/srep44775.

Couto, Blas; Galosi, Serena; Steel, Dora; Kurian, Manju A; Friedman, Jennifer; Gorodetsky, Carolina; Lang, Anthony E; (2024) Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders. Movement Disorders , 39 (9) pp. 1446-1467. 10.1002/mds.29905.

Cox, SE; ELLINS, EA; Marealle, AI; Newton, C; Soka, D; Sasi, P; di Tanna, GL; ... Kirkham, F; + view all Cox, SE; ELLINS, EA; Marealle, AI; Newton, C; Soka, D; Sasi, P; di Tanna, GL; Johnson, W; Makani, J; Prentice, A; HALCOX, J; Kirkham, F; - view fewer (2018) Ready-to-use food supplement +/- arginine & citrulline with daily chloroquine in Tanzanian children with sickle cell disease: a double blind random order cross-over trial. The Lancet Haematology , 5 (4) e147-e160. 10.1016/S2352-3026(18)30020-6.

Cox, SE; Hart, E; Kirkham, FJ; Stotesbury, H; (2020) L-Glutamine in sickle cell disease. Drugs of Today , 56 (4) pp. 257-268. 10.1358/dot.2020.56.4.3110575.

Cox, SE; Makani, J; Soka, D; L'Esperence, VS; Kija, E; Dominguez-Salas, P; Newton, CRJ; ... Kirkham, FJ; + view all Cox, SE; Makani, J; Soka, D; L'Esperence, VS; Kija, E; Dominguez-Salas, P; Newton, CRJ; Birch, AA; Prentice, AM; Kirkham, FJ; - view fewer (2014) Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania. British Journal of Haematology , 165 (5) pp. 699-706. 10.1111/bjh.12791.

Croft, L; (2014) Neuroimaging investigations of language to aid paediatric neurosurgical decision making. Doctoral thesis , UCL (University College London).

Croft, LJ; Baldeweg, T; Sepeta, L; Zimmaro, L; Berl, MM; Gaillard, WD; (2014) Vulnerability of the ventral language network in children with focal epilepsy. Brain , 137 (8) pp. 2245-2257. 10.1093/brain/awu154.

Crosby, LE; Hood, A; Kidwell, K; Nwankwo, C; Peugh, J; Strong, H; Quinn, C; Crosby, LE; Hood, A; Kidwell, K; Nwankwo, C; Peugh, J; Strong, H; Quinn, C; Britto, MT; - view fewer (2020) Improving self-management in adolescents with sickle cell disease. Pediatric Blood & Cancer , 67 (10) , Article e28492. 10.1002/pbc.28492.

Crosby, LE; Real, FJ; Cruse, B; Davis, D; Klein, M; McTate, E; Hood, AM; ... Quinn, CT; + view all Crosby, LE; Real, FJ; Cruse, B; Davis, D; Klein, M; McTate, E; Hood, AM; Brinkman, W; Hackworth, R; Quinn, CT; - view fewer (2019) An Immersive Virtual Reality Curriculum for Pediatric Providers on Shared Decision Making for Hydroxyurea. Presented at: 61st ASH Annual Meeting, Orlando, FL, USA.

Cross, J Helen; Reilly, Colin; Gutierrez Delicado, Eva; Smith, Mary Lou; Malmgren, Kristina; (2022) Epilepsy surgery for children and adolescents: evidence-based but underused. The Lancet Child & Adolescent Health , 6 (7) pp. 484-494. 10.1016/S2352-4642(22)00098-0.

Cross, JH; Galer, BS; Gil-Nagel, A; Devinsky, O; Ceulemans, B; Lagae, L; Schoonjans, A-S; ... Gammaitoni, AR; + view all Cross, JH; Galer, BS; Gil-Nagel, A; Devinsky, O; Ceulemans, B; Lagae, L; Schoonjans, A-S; Donner, E; Wirrell, E; Kothare, S; Agarwal, A; Lock, M; Gammaitoni, AR; - view fewer (2021) Impact of fenfluramine on the expected SUDEP mortality rates in patients with Dravet syndrome. Seizure , 93 pp. 154-159. 10.1016/j.seizure.2021.10.024.

Cross, JH; Kwon, C-S; Asadi-Pooya, AA; Balagura, G; Gómez-Iglesias, P; Guekht, A; Hall, J; ... ILAE Task Forces on COVID-19, Telemedicine, .; + view all Cross, JH; Kwon, C-S; Asadi-Pooya, AA; Balagura, G; Gómez-Iglesias, P; Guekht, A; Hall, J; Ikeda, A; Kishk, NA; Murphy, P; Kissani, N; Naji, Y; Perucca, E; Pérez-Poveda, JC; Sanya, EO; Trinka, E; Zhou, D; Wiebe, S; Jette, N; ILAE Task Forces on COVID-19, Telemedicine, .; - view fewer (2021) Epilepsy care during the COVID-19 pandemic. Epilepsia , 62 (10) pp. 2322-2332. 10.1111/epi.17045.

Cross, JH; Tomson, T; (2021) Newer versus older antiseizure medications: further forward? The Lancet , 397 (10282) pp. 1327-1329. 10.1016/S0140-6736(21)00435-9.

Cross, JH; (2021) Epilepsy in 2020—a new dawn. The Lancet Neurology , 20 (1) pp. 8-10. 10.1016/S1474-4422(20)30438-5.

Cross, JH; (2020) Genetics in the epilepsies – A broadening concept. European Journal of Paediatric Neurology , 24 p. 8. 10.1016/j.ejpn.2020.01.009.

Cross, JH; Arora, R; Heckemann, RA; Gunny, R; Chong, K; Carr, L; Baldeweg, T; ... Bockenhauer, D; + view all Cross, JH; Arora, R; Heckemann, RA; Gunny, R; Chong, K; Carr, L; Baldeweg, T; Differ, AM; Lench, N; Varadkar, S; Sirimanna, T; Wassmer, E; Hulton, SA; Ognjanovic, M; Ramesh, V; Feather, S; Kleta, R; Hammers, A; Bockenhauer, D; - view fewer (2013) Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol , 55 (9) 846 - 856. 10.1111/dmcn.12171.

Cross, JH; Auvin, S; Falip, M; Striano, P; Arzimanoglou, A; (2017) Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Consideration. Frontiers in Neurology , 8 , Article 505. 10.3389/fneur.2017.00505.

Cross, JH; Caraballo, RH; Nabbout, R; Vigevano, F; Guerrini, R; Lagae, L; (2019) Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia , 60 (S3) S39-S48. 10.1111/epi.16334.

Cross, JH; Cock, H; (2020) A perspective on cannabinoids for treating epilepsy: Do they really change the landscape? Neuropharmacology , 170 , Article 107861. 10.1016/j.neuropharm.2019.107861.

Cross, JH; Lagae, L; (2020) The concept of disease modification. European Journal of Paediatric Neurology , 24 pp. 43-46. 10.1016/j.ejpn.2019.12.005.

Cross, JH; Spoudeas, H; (2017) Medical management and antiepileptic drugs in hypothalamic hamartoma. Epilepsia , 58 (S2) pp. 16-21. 10.1111/epi.13758.

Cummings, BB; Marshall, JL; Tukiainen, T; Lek, M; Donkervoort, S; Foley, AR; Bolduc, V; ... MacArthur, DG; + view all Cummings, BB; Marshall, JL; Tukiainen, T; Lek, M; Donkervoort, S; Foley, AR; Bolduc, V; Waddell, LB; Sandaradura, SA; O'Grady, GL; Estrella, E; Reddy, HM; Zhao, F; Weisburd, B; Karczewski, KJ; O'Donnell-Luria, AH; Birnbaum, D; Sarkozy, A; Hu, Y; Gonorazky, H; Claeys, K; Joshi, H; Bournazos, A; Oates, EC; Ghaoui, R; Davis, MR; Laing, NG; Topf, A; Kang, PB; Beggs, AH; North, KN; Straub, V; Dowling, JJ; Muntoni, F; Clarke, NF; Cooper, ST; Bonnemann, CG; MacArthur, DG; - view fewer (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine , 9 (386) 10.1126/scitranslmed.aa15209.

Cutajar, M; Thomas, DL; Banks, T; Clark, CA; Golay, X; Gordon, I; (2012) Repeatability of renal arterial spin labelling MRI in healthy subjects. Magnetic Resonance Materials in Physics, Biology and Medicine , 25 (2) 145 -153. 10.1007/s10334-011-0300-9.

D

D'Arco, F; Alves, CA; Raybaud, C; Chong, WKK; Ishak, GE; Ramji, S; Grima, M; ... Ganesan, V; + view all D'Arco, F; Alves, CA; Raybaud, C; Chong, WKK; Ishak, GE; Ramji, S; Grima, M; Barkovich, AJ; Ganesan, V; - view fewer (2018) Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations. American Journal of Neuroradiology , 39 (11) pp. 2126-2131. 10.3174/ajnr.A5823.

D'Arco, F; O'Hare, P; Dashti, F; Lassaletta, A; Loka, T; Tabori, U; Talenti, G; ... Laughlin, S; + view all D'Arco, F; O'Hare, P; Dashti, F; Lassaletta, A; Loka, T; Tabori, U; Talenti, G; Thust, S; Messalli, G; Hales, P; Bouffet, E; Laughlin, S; - view fewer (2018) Volumetric assessment of tumor size changes in pediatric low-grade gliomas: feasibility and comparison with linear measurements. Neuroradiology , 60 (4) pp. 427-436. 10.1007/s00234-018-1979-3.

D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; ... McTague, Amy; + view all D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole SY; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Gene-STEPS Study, Group; IPCHiP Executive, Committee; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Costain, Gregory; Poduri, Annapurna; Howell, Katherine B; McTague, Amy; - view fewer (2023) Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology , 22 (9) pp. 812-825. 10.1016/S1474-4422(23)00246-6.

Dabrowski, J; King, J; Edwards, K; Yates, R; Heyman, I; Zimmerman-Brenner, S; Murphy, T; (2017) The Long-Term Effects of Group-Based Psychological Interventions for Children With Tourette Syndrome: A Randomized Controlled Trial. Behavior Therapy 10.1016/j.beth.2017.10.005. (In press).

Dale, N; Sakkalou, E; O'Reilly, M; Springall, C; De Haan, M; Salt, A; (2017) Functional vision and cognition in infants with congenital disorders of the peripheral visual system. Developmental Medicine and Child Neurology , 59 (7) pp. 725-731. 10.1111/dmcn.13429.

Danti, FR; Galosi, S; Romani, M; Montomoli, M; Carss, KJ; Raymond, FL; Parrini, E; ... Guerrini, R; + view all Danti, FR; Galosi, S; Romani, M; Montomoli, M; Carss, KJ; Raymond, FL; Parrini, E; Bianchini, C; McShane, T; Dale, RC; Mohammad, SS; Shah, U; Mahant, N; Ng, J; McTague, A; Samanta, R; Vadlamani, G; Valente, EM; Leuzzi, V; Kurian, MA; Guerrini, R; - view fewer (2017) GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurology Genetics , 3 (2) , Article e143. 10.1212/NXG.0000000000000143.

Darras, BT; Masson, R; Mazurkiewicz-Bełdzińska, M; Rose, K; Xiong, H; Zanoteli, E; Baranello, G; ... FIREFISH Working Group; + view all Darras, BT; Masson, R; Mazurkiewicz-Bełdzińska, M; Rose, K; Xiong, H; Zanoteli, E; Baranello, G; Bruno, C; Vlodavets, D; Wang, Y; El-Khairi, M; Gerber, M; Gorni, K; Khwaja, O; Kletzl, H; Scalco, RS; Fontoura, P; Servais, L; FIREFISH Working Group; - view fewer (2021) Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. New England Journal of Medicine , 385 pp. 427-435. 10.1056/NEJMoa2102047.

Darras, BT; Crawford, TO; Finkel, RS; Mercuri, E; De Vivo, DC; Oskoui, M; Tizzano, EF; ... Sumner, CJ; + view all Darras, BT; Crawford, TO; Finkel, RS; Mercuri, E; De Vivo, DC; Oskoui, M; Tizzano, EF; Ryan, MM; Muntoni, F; Zhao, G; Staropoli, J; McCampbell, A; Petrillo, M; Stebbins, C; Fradette, S; Farwell, W; Sumner, CJ; - view fewer (2019) Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (5) pp. 932-944. 10.1002/acn3.779.

Dasgupta, Debayan; Chari, Aswin; Khan, Mehdi; Moeller, Friederike; Tahir, Zubair; McEvoy, Andrew W; Miserocchi, Anna; ... Tisdall, Martin; + view all Dasgupta, Debayan; Chari, Aswin; Khan, Mehdi; Moeller, Friederike; Tahir, Zubair; McEvoy, Andrew W; Miserocchi, Anna; Duncan, John S; Sparks, Rachel E; Tisdall, Martin; - view fewer (2025) Refining computer-assisted SEEG planning with spatial priors – A novel comparison of implantation strategies across adult and paediatric centres. Neurophysiologie Clinique , 55 (1) , Article 103038. 10.1016/j.neucli.2024.103038.

Datta, AN; Bahi-Buisson, N; Bienvenu, T; Buerki, SE; Gardiner, F; Cross, JH; Heron, B; ... Lemke, JR; + view all Datta, AN; Bahi-Buisson, N; Bienvenu, T; Buerki, SE; Gardiner, F; Cross, JH; Heron, B; Kaminska, A; Korff, CM; Lepine, A; Lesca, G; McTague, A; Mefford, HC; Mignot, C; Milh, M; Piton, A; Pressler, RM; Ruf, S; Sadleir, LG; de Saint Martin, A; Van Gassen, K; Verbeek, NE; Ville, D; Villeneuve, N; Zacher, P; Scheffer, IE; Lemke, JR; - view fewer (2021) The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia 10.1111/epi.16761. (In press).

Davendralingam, N; Sebire, NJ; Arthurs, OJ; Shelmerdine, SC; (2020) Artificial intelligence in paediatric radiology: Future opportunities. The British Journal of Radiology , 94 (1117) , Article 20200975. 10.1259/bjr.20200975.

Davendralingam, N; Shelmerdine, SC; Hutchinson, JC; Chopra, M; Barrett, H; Agahi, A; Palm, L; Davendralingam, N; Shelmerdine, SC; Hutchinson, JC; Chopra, M; Barrett, H; Agahi, A; Palm, L; Arthurs, OJ; - view fewer (2021) Ligamentum arteriosum calcification on paediatric postmortem computed tomography. Pediatric Radiology , 51 (3) pp. 385-391. 10.1007/s00247-020-04839-2.

Day, KL; (2018) The Development Of Executive Functions And Information Processing Speeds In Toddlers Born Preterm. Doctoral thesis (Ph.D), UCL (University College London).

Dayan, M; Munoz, M; Jentschke, S; Chadwick, MJ; Cooper, JM; Riney, K; Vargha-Khadem, F; Dayan, M; Munoz, M; Jentschke, S; Chadwick, MJ; Cooper, JM; Riney, K; Vargha-Khadem, F; Clark, CA; - view fewer (2015) Optic radiation structure and anatomy in the normally developing brain determined using diffusion MRI and tractography. Brain Struct Funct , 220 (1) 291 - 306. 10.1007/s00429-013-0655-y.

De Amicis, R; Baranello, G; Foppiani, A; Leone, A; Battezzati, A; Bedogni, G; Ravella, S; ... Bertoli, S; + view all De Amicis, R; Baranello, G; Foppiani, A; Leone, A; Battezzati, A; Bedogni, G; Ravella, S; Giaquinto, E; Mastella, C; Agosto, C; Bertini, E; D’Amico, A; Pedemonte, M; Bruno, C; Wells, JC; Fewtrell, M; Bertoli, S; - view fewer (2021) Growth patterns in children with spinal muscular atrophy. Orphanet Journal of Rare Diseases , 16 (1) , Article 375. 10.1186/s13023-021-02015-9.

de Boer, A; Villa, G; Bane, O; Bock, M; Cox, EF; Dekkers, IA; Eckerbom, P; ... Caroli, A; + view all de Boer, A; Villa, G; Bane, O; Bock, M; Cox, EF; Dekkers, IA; Eckerbom, P; Fernández-Seara, MA; Francis, ST; Haddock, B; Hall, ME; Hall Barrientos, P; Hermann, I; Hockings, PD; Lamb, HJ; Laustsen, C; Lim, RP; Morris, DM; Ringgaard, S; Serai, SD; Sharma, K; Sourbron, S; Takehara, Y; Wentland, AL; Wolf, M; Zöllner, FG; Nery, F; Caroli, A; - view fewer (2020) Consensus-Based Technical Recommendations for Clinical Translation of Renal Phase Contrast MRI. Journal of Magnetic Resonance Imaging , 55 (2) pp. 323-335. 10.1002/jmri.27419.

De Gruijter, N; Naja, M; Peckham, H; Radziszewska, A; Kinsella, M; Glenister, J; Rosser, E; ... Ciurtin, C; + view all De Gruijter, N; Naja, M; Peckham, H; Radziszewska, A; Kinsella, M; Glenister, J; Rosser, E; Butler, G; Jury, E; Ciurtin, C; - view fewer (2021) A systematic review exploring the bidirectional relationship between puberty and autoimmune rheumatic diseases. Paediatric Rheumatology , 19 , Article 47. 10.1186/s12969-021-00528-y.

de Haan, M; Pascalis, O; Johnson, MH; (2002) Specialization of neural mechanisms underlying face recognition in human infants. J COGNITIVE NEUROSCI , 14 (2) 199 - 209.

De Roever, I; Vezyroglou, A; Hebden, P; Thornton, R; Worley, A; Alves, M; Dean, E; ... Tachtsidis, I; + view all De Roever, I; Vezyroglou, A; Hebden, P; Thornton, R; Worley, A; Alves, M; Dean, E; Bale, G; Pinti, P; Cross, JH; Tachtsidis, I; - view fewer (2019) A new multichannel broadband NIRS system for quantitative monitoring of brain hemodynamics and metabolism during seizures. In: Dehghani, H and Wabnitz, H, (eds.) Diffuse Optical Spectroscopy and Imaging VII. SPIE: Munich, Germany.

De Sanctis, R; Coratti, G; Pasternak, A; Montes, J; Pane, M; Mazzone, ES; Young, SD; ... Mercuri, E; + view all De Sanctis, R; Coratti, G; Pasternak, A; Montes, J; Pane, M; Mazzone, ES; Young, SD; Salazar, R; Quigley, J; Pera, MC; Antonaci, L; Lapenta, L; Glanzman, AM; Tiziano, D; Muntoni, F; Darras, BT; De Vivo, DC; Finkel, R; Mercuri, E; - view fewer (2016) Developmental milestones in type I spinal muscular atrophy. Neuromuscular Disorders , 26 (11) pp. 754-759. 10.1016/j.nmd.2016.10.002.

De Vito, A; Mankad, K; Pujar, S; Chari, A; Ippolito, D; D'Arco, F; (2021) Narrative review of epilepsy: getting the most out of your neuroimaging. Translational Pediatrics , 10 (4) pp. 1078-1099. 10.21037/tp-20-261.

de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; ... TOSCA Consortium and TOSCA Investigators, .; + view all de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; Beure d'Augères, G; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Jansen, AC; TOSCA Consortium and TOSCA Investigators, .; - view fewer (2020) Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project. Journal of Neurodevelopmental Disorders , 12 (1) , Article 24. 10.1186/s11689-020-09327-0.

de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Jansen, AC; + view all de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; Beaure d'Augères, G; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Jansen, AC; - view fewer (2020) Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype. Frontiers in Neurology , 11 , Article 603. 10.3389/fneur.2020.00603.

de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Jansen, AC; + view all de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augères, GB; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Kingswood, JC; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; - view fewer (2018) TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet Journal of Rare Diseases , 13 (1) , Article 157. 10.1186/s13023-018-0901-8.

DeBaun, MR; Gordon, M; McKinstry, RC; Noetzel, MJ; White, DA; Sarnaik, SA; Meier, ER; ... Casella, JF; + view all DeBaun, MR; Gordon, M; McKinstry, RC; Noetzel, MJ; White, DA; Sarnaik, SA; Meier, ER; Howard, TH; Majumdar, S; Inusa, BPD; Telfer, PT; Kirby-Allen, M; McCavit, TL; Kamdem, A; Airewele, G; Woods, GM; Berman, B; Panepinto, JA; Fuh, BR; Kwiatkowski, JL; King, AA; Fixler, JM; Rhodes, MM; Thompson, AA; Heiny, ME; Redding-Lallinger, RC; Kirkham, FJ; Dixon, N; Gonzalez, CE; Kalinyak, KA; Quinn, CT; Strouse, JJ; Miller, JP; Lehmann, H; Kraut, MA; Ball, WS; Hirtz, D; Casella, JF; - view fewer (2014) Controlled Trial of Transfusions for Silent Cerebral Infarcts in Sickle Cell Anemia. New England Journal of Medicine , 371 pp. 699-710. 10.1056/NEJMoa1401731.

DeBaun, MR; Jordan, LC; King, AA; Schatz, J; Vichinsky, E; Fox, CK; McKinstry, RC; ... Murad, MH; + view all DeBaun, MR; Jordan, LC; King, AA; Schatz, J; Vichinsky, E; Fox, CK; McKinstry, RC; Telfer, P; Kraut, MA; Daraz, L; Kirkham, FJ; Murad, MH; - view fewer (2020) American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults. Blood Advances , 4 (8) pp. 1554-1588. 10.1182/bloodadvances.2019001142.

DeBaun, MR; Kirkham, FJ; (2016) New option for primary stroke prevention in sickle cell anaemia. The Lancet , 387 (10019) pp. 626-627. 10.1016/S0140-6736(15)01130-7.

DeBaun, MR; Kirkham, FJ; (2016) Central nervous system complications and management in sickle cell disease. Blood , 127 (7) pp. 829-838. 10.1182/blood-2015-09-618579.

Defelippe, Victoria M; J M W van Thiel, Ghislaine; Otte, Willem M; Schutgens, Roger EG; Stunnenberg, Bas; Cross, Helen J; O'Callaghan, Finbar; ... Braun, Kees PJ; + view all Defelippe, Victoria M; J M W van Thiel, Ghislaine; Otte, Willem M; Schutgens, Roger EG; Stunnenberg, Bas; Cross, Helen J; O'Callaghan, Finbar; De Giorgis, Valentina; Jansen, Floor E; Perucca, Emilio; Brilstra, Eva H; Braun, Kees PJ; - view fewer (2023) Toward responsible clinical n-of-1 strategies for rare diseases. Drug Discovery Today , 28 (10) , Article 103688. 10.1016/j.drudis.2023.103688.

Deguise, M-O; Baranello, G; Mastella, C; Beauvais, A; Michaud, J; Leone, A; De Amicis, R; ... Kothary, R; + view all Deguise, M-O; Baranello, G; Mastella, C; Beauvais, A; Michaud, J; Leone, A; De Amicis, R; Battezzati, A; Dunham, C; Selby, K; Chardon, JW; McMillan, HJ; Huang, Y-T; Courtney, NL; Mole, AJ; Kubinski, S; Claus, P; Murray, LM; Bowerman, M; Gillingwater, TH; Bertoli, S; Parson, SH; Kothary, R; - view fewer (2019) Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (8) pp. 1519-1532. 10.1002/acn3.50855.

Deligianni, F; Carmichael, DW; Zhang, GH; Clark, CA; Clayden, JD; (2016) NODDI and Tensor-Based Microstructural Indices as Predictors of Functional Connectivity. PLOS One , 11 (4) , Article e0153404. 10.1371/journal.pone.0153404.

Deligianni, F; Centeno, M; Carmichael, DW; Clayden, JD; (2014) Relating resting-state fMRI and EEG whole-brain connectomes across frequency bands. Front Neurosci , 8 , Article 258 . 10.3389/fnins.2014.00258.

Demarest, S; Pestana-Knight, EM; Olson, HE; Downs, J; Marsh, ED; Kaufmann, WE; Partridge, C-A; ... Benke, TA; + view all Demarest, S; Pestana-Knight, EM; Olson, HE; Downs, J; Marsh, ED; Kaufmann, WE; Partridge, C-A; Leonard, H; Gwadry-Sridhar, F; Frame, KE; Cross, JH; Chin, RFM; Parikh, S; Panzer, A; Weisenberg, J; Utley, K; Jaksha, A; Amin, S; Khwaja, O; Devinsky, O; Neul, JL; Percy, AK; Benke, TA; - view fewer (2019) Severity Assessment in CDKL5 Deficiency Disorder. Pediatric Neurology , 97 pp. 38-42. 10.1016/j.pediatrneurol.2019.03.017.

deVeber, G; Kirkham, F; Brandao, LR; Sträter, R; Kenet, G; Kausch, M; Stoll, M; ... Nowak-Göttl, U; + view all deVeber, G; Kirkham, F; Brandao, LR; Sträter, R; Kenet, G; Kausch, M; Stoll, M; Torge, A; Ganesan, V; Prengler, M; Nowak-Göttl, U; - view fewer (2019) Recurrent Pediatric Stroke: The Role of Thrombophilia in a Large International Pediatric Stroke Population. Presented at: 63rd Annual Meeting of the Society of Thrombosis and Haemostasis Research, Berlin, Germany.

deVeber, G; Kirkham, F; Shannon, K; Brandao, L; Straeter, R; Kenet, G; Clausnizer, H; ... Nowak-Goettl, U; + view all deVeber, G; Kirkham, F; Shannon, K; Brandao, L; Straeter, R; Kenet, G; Clausnizer, H; Moharir, M; Kausch, M; Askalan, R; MacGregor, D; Stoll, M; Torge, A; Dlamini, N; Ganesan, V; Prengler, M; Singh, J; Nowak-Goettl, U; - view fewer (2019) Recurrent Stroke: The Role Of Thrombophilia In A Large International Pediatric Stroke Population. [Corrigendum]. Haematologica , 104 (10) p. 2116. 10.3324/haematol.2019.234666.

deVeber, G; Kirkham, F; Shannon, K; Brandão, L; Sträter, R; Kenet, G; Clausnizer, H; ... Nowak-Göttl, U; + view all deVeber, G; Kirkham, F; Shannon, K; Brandão, L; Sträter, R; Kenet, G; Clausnizer, H; Moharir, M; Kausch, M; Askalan, R; MacGregor, D; Stoll, M; Torge, A; Dlamini, N; Ganesan, V; Prengler, M; Singh, J; Nowak-Göttl, U; - view fewer (2019) Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population. Haematologica , 104 (8) pp. 1676-1681. 10.3324/haematol.2018.211433.

Devine, Kerri; Villalobos, Elisa; Kyle, Catriona J; Andrew, Ruth; Reynolds, Rebecca M; Stimson, Roland H; Nixon, Mark; Devine, Kerri; Villalobos, Elisa; Kyle, Catriona J; Andrew, Ruth; Reynolds, Rebecca M; Stimson, Roland H; Nixon, Mark; Walker, Brian R; - view fewer (2023) The ATP-binding cassette proteins ABCB1 and ABCC1 as modulators of glucocorticoid action. Nature Reviews Endocrinology , 19 (2) pp. 112-124. 10.1038/s41574-022-00745-9.

Devinsky, O; Cross, JH; Laux, L; Marsh, E; Miller, I; Nabbout, R; Scheffer, IE; ... Wright, S; + view all Devinsky, O; Cross, JH; Laux, L; Marsh, E; Miller, I; Nabbout, R; Scheffer, IE; Thiele, EA; Wright, S; - view fewer (2017) Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. The New England Journal of Medicine , 376 (21) pp. 2011-2020. 10.1056/NEJMoa1611618.

Devinsky, O; Patel, AD; Cross, JH; Villanueva, V; Wirrell, EC; Privitera, M; Greenwood, SM; ... Zuberi, SM; + view all Devinsky, O; Patel, AD; Cross, JH; Villanueva, V; Wirrell, EC; Privitera, M; Greenwood, SM; Roberts, C; Checketts, D; VanLandingham, KE; Zuberi, SM; - view fewer (2018) Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome. New England Journal of Medicine , 378 (20) pp. 1888-1897. 10.1056/NEJMoa1714631.

Devito, LG; Lionello, VM; Muntoni, F; Tedesco, FS; Healy, L; (2023) Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM). Stem Cell Research , 69 , Article 103079. 10.1016/j.scr.2023.103079.

Di Stasi, M; Mankad, K; Carney, O; Loebel, U; Biswas, A; Sudhakar, S; Kinsler, V; Di Stasi, M; Mankad, K; Carney, O; Loebel, U; Biswas, A; Sudhakar, S; Kinsler, V; D’Arco, F; - view fewer (2023) Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review. Neuroradiology , 65 (6) pp. 1077-1086. 10.1007/s00234-023-03150-9.

Dion, C; Roche, S; Laberthonnière, C; Broucqsault, N; Mariot, V; Xue, S; Gurzau, AD; ... Magdinier, F; + view all Dion, C; Roche, S; Laberthonnière, C; Broucqsault, N; Mariot, V; Xue, S; Gurzau, AD; Nowak, A; Gordon, CT; Gaillard, M-C; El-Yazidi, C; Thomas, M; Schlupp-Robaglia, A; Missirian, C; Malan, V; Ratbi, L; Sefiani, A; Wollnik, B; Binetruy, B; Salort Campana, E; Attarian, S; Bernard, R; Nguyen, K; Amiel, J; Dumonceaux, J; Murphy, JM; Déjardin, J; Blewitt, ME; Reversade, B; Robin, JD; Magdinier, F; - view fewer (2019) SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. Nucleic Acids Research , 47 (6) pp. 2822-2839. 10.1093/nar/gkz005.

Disma, N; Veyckemans, F; Virag, K; Hansen, TG; Becke, K; Harlet, P; Vutskits, L; ... Sunderland, R; + view all Disma, N; Veyckemans, F; Virag, K; Hansen, TG; Becke, K; Harlet, P; Vutskits, L; Walker, SM; de Graaff, JC; Zielinska, M; Simic, D; Engelhardt, T; Habre, W; Breschan, C; Likar, R; Platzer, M; Edelman, I; Eger, J; Heschl, S; Messerer, B; Vittinghof, M; Kroess, R; Stichlberger, M; Kahn, D; Pirotte, T; Pregardien, C; Veyckemans, F; Stevens, F; Berghmans, J; Bauters, A; De Baerdemaeker, L; De Hert, S; Lapage, K; Parashchanka, A; Van Limmen, J; Wyffels, P; Lauweryns, J; Najafi, N; Vundelinckx, J; Butković, D; Sorić, IK; Kralik, S; Markić, A; Azman, J; Markic, J; Pupacic, D; Frelich, M; Reimer, P; Urbanec, R; Cajkova, P; Mixa, V; Sedlačkova, Y; Knoppova, L; Zlamalova (nee Květoňova), A; Vavřina, M; Žurek, J; Hansen, T; Afshari, A; Bille, AB; Ellekvist, M; Ilmoja, M-L; Moor, R; Kikas, R; Vali, M; Kallio, K; Reponen, E; Suominen, P; Suvanto, S; Vahatalo, R; Kokki, H; Kokki, M; Harju, J; Kokkonen, M; Vieri, J; Manner, T; Amory, C; Ludot, H; Bert, D; Godart, J; Laffargue, A; Dupont, H; Urbina, B; Baujard, C; Roulleau, P; Staiti, G; Bordes, M; Gaulain, KN; Hamonic, Y; Semjen, F; Jacqmarcq, O; Lejus-Bourdeau, C; Magne, C; Petry, L; Ros, L; Zang, A; Bennis, M; Coustets, B; Fesseau, R; Constant, I; Khalil, E; Sabourdin, N; Audren, N; Descarpentries, T; Fabre, F; Legrand, A; Druot, E; Orliaguet, G; Sabau, L; Uhrig, L; de la Briere, F; Jonckheer, K; Mission, J-P; Scordo, L; Couchepin, C; Dadure, C; De la Arena, P; Hertz, L; Pirat, P; Sola, C; Bellon, M; Dahmani, S; Julien-Marsollier, F; Michelet, D; Depret-Donatien, V; Lesage, A; Kaufmann, J; Laschat, M; Wappler, F; Becke, K; Brunner, L; Oppenrieder, K; Badelt, G; Hochmuth, K; Koller, B; Reil, A; Richter, S; Fischer, T; Diers, A; Schorer, C; Weyland, A; Cohausz, R; Kretz, F-J; Loffler, M; Wilbs, M; Hoehne, C; Ulrici, J; Goeters, C; Flinspach, A; Klages, M; Lindau, S; Messroghli, L; Zacharowski, K; Eisner, C; Mueller, T; Richter, D; Schafer, M; Weigand, M; Weiterer, S; Ochsenreiter, M; Scholer, M; Terboven, T; Eggemann, I; Haussmann, S; Leister, N; Menzel, C; Trieschmann, U; Yucetepe, S; Keilig, S; Kranke, P; Jelting, Y; Baehner, T; Ellerkmann, R; Ghamari, S; Neumann, C; Sohle, M; Chloropoulou, P; Ntritsou, V; Papagiannopoulou, P; Garini, E; Karafotia, A; Mammi, P; Bali, E; Iordanidou, D; Malisiova, A; Polyzoi, A; Tsiotou, A; Sapi, E; Szekely, E; Kosik, N; Maraczi, V; Schnur, J; Csillag, J; Gal, J; Gobl, G; Hauser, B; Petroczy, A; Tovishazi, G; Blain, S; Gallagher, S; Harte, S; Jackson, M; Meehan, E; Nawoor, Z; O’Hare, B; Ross, M; Lerro, D; Astuto, M; Grasso, C; Scalisi, R; Frasacco, G; Lenares, E; Leone, R; Grazzini, M; Minardi, C; Zadra, N; Cinnella, G; Cotoia, A; Galante, D; De Lorenzo, B; Kuppers, B; Bottazzi, G; Caramelli, F; Mondardini, MC; Rossetti, E; Picardo, S; Vittori, A; Camporesi, A; Wolfler, A; Calderini, E; Colantonio, LB; Finamore, SA; Porro, GA; Bonfiglio, R; Disma, N; Kotzeva, S; Mameli, L; Mattioli, G; Micalizzi, C; Montaguti, A; Pistorio, A; Zanaboni, C; Guddo, A; Neba, GR; Favarato, M; Locatelli, BG; Maffioletti, M; Sonzogni, V; Garra, R; Sammartino, M; Sbaraglia, F; Cortegiani, A; Moscarelli, A; Attanasi, E; Tesoro, S; Agapiti, C; Pinzoni, F; Vezzoli, C; Bilotta, F; Barzdina, A; Straume, Z; Zundane, A; Lukosiene, L; Maraulaite, I; Razlevice, I; Schmitz, B; Mifsud, S; Aehling, C; Allison, C; De Boer, R; Emal, D; Stevens, M; Buitenhuis, M; de Graaff, J; De Liefde, I; Machotta, A; Scoones, G; Staals, L; Tomas, J; Van der, A; Dortmont, K-V; Veldhuizen, M; Alders, D; Buhre, W; Schafrat, E; Schreiber, J; Vermeulen, PM; Hendriks, M; Lako, S; Voet-Lindner, M; Pieters, B; Scheffer, G-J; Tielens, L; Absalom, AR; Bergsma, M; De Ruiter, J; Meier, S; Volkers, M; Zweers, T; Beukers, AM; Boer, C; Dertinger, J; Numan, S; Van Zaane, B; Boerke, WB; Ekiz, N; Stensrud, K; Drage, IM; Isern, ER; Bartkowska-Sniatkowska, A; Grzeskowiak, M; Juzwa-Sobieraj, M; Rosada-Kurasińska, J; Baranowski, A; Jakubowska, K; Lewandowska, D; Mierzewska-Schmidt, M; Sawicki, P; Urban-Lechowicz, M; Przemyslaw, P; Zielinska, M; Leal, T; Soares, M; Pina, P; Pinho, S; Patuleia, MD; Esteves, CC; Salgado, H; Santos, MJ; Badeti, R; Cindea, I; Oana, L; Gurita, A; Ilie, L; Mocioiu, G; Tabacaru, R; Trante, I; Munteanu, V; Morariu, M; Nyiri, E; Budic, I; Marjanovic, V; Drašković, B; Pandurov, M; Ilic, J; Mandras, A; Rados, Z; Stankovic, N; Suica, M; Vasiljevic, S; Knezevic, M; Milojevic, I; Petrov, I; Racic, SP; Simic, D; Simic, I; Stevic, M; Vulicevic, I; Cabanova, B; Hanula, M; Berger, J; Janjatovic, D; Štupnik, ŠP; Kohn, I; Lindestam, U; Reinhard, J; Castellheim, A; Sandstrom, K; Bengt, S; Dorenberg, R; Frykholm, P; Garcia, M; Kvarnstrom, A; Ponten, E; Bruelisauer, T; Erdoes, G; Kaiser, H; Marchon, M; Riva, T; Seiler, S; Bogli, Y; Dolci, M; Marcucci, C; Habre, W; Pichon, I; Vutskits, L; Casutt, M; Holzle, M; Hurni, T; Johr, M; Anna-Ursina, .; Malar, .; Mauch, J; Erb, T; Oeinck, K; Akin, M; Keskin, G; Senayli, Y; Kaya, G; Kendigelen, P; Tutuncu, AC; Hatipoğlu, Z; Ozcengiz, D; Erdost, HA; Ocmen, E; Olguner, C; Ayanoglu, H; Dincer, PC; Umuroglu, T; Azizoglu, M; Birbicer, H; Doruk, N; Sagun, A; Baris, S; Dmytriiev, D; Kuchi, S; Masip, N; Brooks, P; Hare, A; Ahmad, N; Casey, M; De Silva, S; Dobby, N; Krishnan, P; Sogbodjor, LA; Walker, E; Walker, S; King, S; Nicholson, K; Quinney, M; Stevens, P; Blevin, A; Giombini, M; Goonasekera, C; Adil, S; Bew, S; Bodlani, C; Gilpin, D; Jinks, S; Malarkkan, N; Miskovic, A; Pad, R; Barry, JW; Abbott, J; Armstrong, J; Cooper, N; Crate, L; Emery, J; James, K; King, H; Martin, P; Catenacci, SS; Bomont, R; Smith, P; Mele, S; Verzelloni, A; Dix, P; Bell, G; Gordeva, E; McKee, L; Ngan, E; Scheffczik, J; Tan, L-E; Worrall, M; Cassar, C; Goddard, K; Barlow, V; Oshan, V; Shah, K; Bell, S; Daniels, L; Gandhi, M; Pachter, D; Perry, C; Robertson, A; Scott, C; Waring, L; Barnes, D; Childs, S; Norman, J; Sunderland, R; - view fewer (2021) Morbidity and mortality after anaesthesia in early life: results of the European prospective multicentre observational study, neonate and children audit of anaesthesia practice in Europe (NECTARINE). British Journal of Anaesthesia 10.1016/j.bja.2021.02.016. (In press).

Disma, N; Virag, K; Riva, T; Kaufmann, J; Engelhardt, T; Habre, W; Breschan, C; ... Katalin, V; + view all Disma, N; Virag, K; Riva, T; Kaufmann, J; Engelhardt, T; Habre, W; Breschan, C; Likar, R; Platzer, M; Edelman, I; Eger, J; Heschl, S; Messerer, B; Vittinghof, M; Kroess, R; Stichlberger, M; Kahn, D; Pirotte, T; Pregardien, C; Veyckemans, F; Stevens, F; Berghmans, J; Bauters, A; De Baerdemaeker, L; De Hert, S; Lapage, K; Parashchanka, A; Van Limmen, J; Wyffels, P; Lauweryns, J; Najafi, N; Vundelinckx, J; Butković, D; Kerovec Sorić, I; Kralik, S; Markić, A; Azman, J; Markic, J; Pupacic, D; Frelich, M; Reimer, P; Urbanec, R; Cajková, P; Mixa, V; Sedláčková, Y; Knoppová, L; Zlámalová (neé Květoňová), A; Vavřina, M; Žurek, J; Hansen, T; Afshari, A; Bille, AB; Ellekvist, M; Ilmoja, M-L; Moor, R; Kikas, R; Väli, M; Kallio, K; Reponen, E; Suominen, P; Suvanto, S; Vähätalo, R; Kokki, H; Kokki, M; Harju, J; Kokkonen, M; Vieri, J; Manner, T; Amory, C; Ludot, H; Bert, D; Godart, J; Laffargue, A; Dupont, H; Urbina, B; Baujard, C; Roulleau, P; Staiti, G; Bordes, M; Nouette Gaulain, K; Hamonic, Y; Semjen, F; Jacqmarcq, O; Lejus-Bourdeau, C; Magne, C; Petry, L; Ros, L; Zang, A; Bennis, M; Coustets, B; Fesseau, R; Constant, I; Khalil, E; Sabourdin, N; Audren, N; Descarpentries, T; Fabre, F; Legrand, A; Druot, E; Orliaguet, G; Sabau, L; Uhrig, L; de la Brière, F; Jonckheer, K; Mission, J-P; Scordo, L; Couchepin, C; Dadure, C; De la Arena, P; Hertz, L; Pirat, P; Sola, C; Bellon, M; Dahmani, S; Julien-Marsollier, F; Michelet, D; Depret-Donatien, V; Lesage, A; Kaufmann, J; Laschat, M; Wappler, F; Becke, K; Brunner, L; Oppenrieder, K; Badelt, G; Hochmuth, K; Koller, B; Reil, A; Richter, S; Fischer, T; Diers, A; Schorer, C; Weyland, A; Cohausz, R; Kretz, F-J; Löffler, M; Wilbs, M; Hoehne, C; Ulrici, J; Goeters, C; Flinspach, A; Klages, M; Lindau, S; Messroghli, L; Zacharowski, K; Eisner, C; Mueller, T; Richter, D; Schäfer, M; Weigand, M; Weiterer, S; Ochsenreiter, M; Schöler, M; Terboven, T; Eggemann, I; Haussmann, S; Leister, N; Menzel, C; Trieschmann, U; Yücetepe, S; Keilig, S; Kranke, P; Jelting, Y; Baehner, T; Ellerkmann, R; Ghamari, S; Neumann, C; Söhle, M; Chloropoulou, P; Ntritsou, V; Papagiannopoulou, P; Garini, E; Karafotia, A; Mammi, P; Bali, E; Iordanidou, D; Malisiova, A; Polyzoi, A; Tsiotou, A; Sapi, E; Székely, E; Kosik, N; Maráczi, V; Schnur, J; Csillag, J; Gál, J; Göbl, G; Hauser, B; Petróczy, A; Tövisházi, G; Blain, S; Gallagher, S; Harte, S; Jackson, M; Meehan, E; Nawoor, Z; O’Hare, B; Ross, M; Lerro, D; Astuto, M; Grasso, C; Scalisi, R; Frasacco, G; Lenares, E; Leone, R; Grazzini, M; Minardi, C; Zadra, N; Cinnella, G; Cotoia, A; Galante, D; De Lorenzo, B; Kuppers, B; Bottazzi, G; Caramelli, F; Mondardini, MC; Rossetti, E; Picardo, S; Vittori, A; Camporesi, A; Wolfler, A; Calderini, E; Colantonio, LB; Finamore, SA; Porro, GA; Bonfiglio, R; Disma, N; Kotzeva, S; Mameli, L; Mattioli, G; Micalizzi, C; Montaguti, A; Pistorio, A; Zanaboni, C; Guddo, A; Neba, GR; Favarato, M; Locatelli, BG; Maffioletti, M; Sonzogni, V; Garra, R; Sammartino, M; Sbaraglia, F; Cortegiani, A; Moscarelli, A; Attanasi, E; Tesoro, S; Agapiti, C; Pinzoni, F; Vezzoli, C; Bilotta, F; Barzdina, A; Straume, Z; Zundane, A; Lukosiene, L; Maraulaite, I; Razlevice, I; Schmitz, B; Mifsud, S; Aehling, C; Allison, C; De Boer, R; Emal, D; Stevens, M; Buitenhuis, M; de Graaff, J; De Liefde, I; Machotta, A; Scoones, G; Staals, L; Tomas, J; Van der Knijff-van Dortmont, A; Veldhuizen, M; Alders, D; Buhre, W; Schafrat, E; Schreiber, J; Vermeulen, PM; Hendriks, M; Lako, S; Voet-Lindner, M; Pieters, B; Scheffer, G-J; Tielens, L; Absalom, AR; Bergsma, M; De Ruiter, J; Meier, S; Volkers, M; Zweers, T; Beukers, AM; Boer, C; Dertinger, J; Numan, S; Van Zaane, B; Boerke, WB; Ekiz, N; Stensrud, K; Drage, IM; Isern, ER; Bartkowska-Sniatkowska, A; Grzeskowiak, M; Juzwa-Sobieraj, M; Rosada-Kurasińska, J; Baranowski, A; Jakubowska, K; Lewandowska, D; Mierzewska-Schmidt, M; Sawicki, P; Urban-Lechowicz, M; Przemyslaw, P; Zielinska, M; Leal, T; Soares, M; Pina, P; Pinho, S; Patuleia, MD; Esteves, CC; Salgado, H; Santos, MJ; Badeti, R; Cindea, I; Oana, L; Gurita, A; Ilie, L; Mocioiu, G; Tabacaru, R; Trante, I; Munteanu, V; Morariu, M; Nyíri, E; Budic, I; Marjanovic, V; Drašković, B; Pandurov, M; Ilic, J; Mandras, A; Rados, Z; Stankovic, N; Suica, M; Vasiljevic, S; Knezevic, M; Milojevic, I; Petrov, I; Puric Racic, S; Simic, D; Simic, I; Stevic, M; Vulicevic, I; Cabanová, B; Hanula, M; Berger, J; Janjatovic, D; Pirtovšek Štupnik, Š; Méndez, D; Pino, G; Rubio, P; Izquierdo, A; López, S; González Serrano, C; Cebrián, J; Peleteiro, A; Del Rey de Diego, P; Martínez García, E; Tormo de las Heras, C; Troncoso Montero, P; Arbona, C; Artés, D; Chamizo, A; Serrano, S; Suarez Comas, M; Escribá, F; Auli, C; Pérez Pardo, O; Sierra Biddle, N; Suárez Castaño, C; Villalobos Rico, MI; Manrique Muñoz, S; García Martínez, I; Montferrer Estruch, N; Vilardell Ortíz, E; Poves-Álvarez, R; Kohn, I; Lindestam, U; Reinhard, J; Castellheim, A; Sandström, K; Bengt, S; Dörenberg, R; Frykholm, P; Garcia, M; Kvarnström, A; Pontén, E; Bruelisauer, T; Erdoes, G; Kaiser, H; Marchon, M; Riva, T; Seiler, S; Bögli, Y; Dolci, M; Marcucci, C; Habre, W; Pichon, I; Vutskits, L; Casutt, M; Hölzle, M; Hurni, T; Jöhr, M; Malär, A-U; Mauch, J; Erb, T; Oeinck, K; Akin, M; Keskin, G; Senayli, Y; Kaya, G; Kendigelen, P; Tutuncu, AÇ; Hatipoğlu, Z; Özcengiz, D; Erdost, HA; Öçmen, E; Olguner, Ç; Ayanoglu, H; Dincer, PC; Umuroglu, T; Azizoglu, M; Birbiçer, H; Doruk, N; Sagun, A; Baris, S; Dmytriiev, D; Kuchi, S; Masip, N; Brooks, P; Hare, A; Ahmad, N; Casey, M; De Silva, S; Dobby, N; Krishnan, P; Sogbodjor, LA; Walker, E; Walker, S; King, S; Nicholson, K; Quinney, M; Stevens, P; Blevin, A; Giombini, M; Goonasekera, C; Adil, S; Bew, S; Bodlani, C; Gilpin, D; Jinks, S; Malarkkan, N; Miskovic, A; Pad, R; Wolfe Barry, J; Abbott, J; Armstrong, J; Cooper, N; Crate, L; Emery, J; James, K; King, H; Martin, P; Scalia Catenacci, S; Bomont, R; Smith, P; Mele, S; Verzelloni, A; Dix, P; Bell, G; Gordeva, E; McKee, L; Ngan, E; Scheffczik, J; Tan, L-E; Worrall, M; Cassar, C; Goddard, K; Barlow, V; Oshan, V; Shah, K; Bell, S; Daniels, L; Gandhi, M; Pachter, D; Perry, C; Robertson, A; Scott, C; Waring, L; Barnes, D; Childs, S; Norman, J; Sunderland, R; Julia, D; Prisca, F; Pierre, H; Sarah, H; Brigitte, L; Benoît, P; Katalin, V; - view fewer (2021) Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study. British Journal of Anaesthesia 10.1016/j.bja.2021.02.021. (In press).

Dlamini, N; Pohl, K; Eley, B; Van Toorn, R; Kilborn, T; Padayachee, S; Pontigon, A-M; ... Wilmshurst, J; + view all Dlamini, N; Pohl, K; Eley, B; Van Toorn, R; Kilborn, T; Padayachee, S; Pontigon, A-M; Kirkham, FJ; Wilmshurst, J; - view fewer (2020) Stroke transcranial Doppler in children with human immunodeficiency virus. Developmental Medicine & Child Neurology , 62 (6) pp. 735-741. 10.1111/dmcn.14439.

Dlamini, N; Saunders, DE; Bynevelt, M; Trompeter, S; Cox, TC; Bucks, RS; Kirkham, FJ; (2017) Nocturnal oxyhemoglobin desaturation and arteriopathy in a pediatric sickle cell disease cohort. Neurology , 89 (24) 10.1212/WNL.0000000000004728.

Dlamini, N; Shah-Basak, P; Leung, J; Kirkham, F; Shroff, M; Kassner, A; Robertson, A; ... Logan, W; + view all Dlamini, N; Shah-Basak, P; Leung, J; Kirkham, F; Shroff, M; Kassner, A; Robertson, A; Dirks, P; Westmacott, R; deVeber, G; Logan, W; - view fewer (2018) Breath-Hold Blood Oxygen Level-Dependent MRI: A Tool for the Assessment of Cerebrovascular Reserve in Children with Moyamoya Disease. American Journal of Neuroradiology , 39 (9) pp. 1717-1723. 10.3174/ajnr.A5739.

Dlamini, N; Slim, M; Kirkham, F; Shroff, M; Dirks, P; Moharir, M; MacGregor, D; ... Logan, W; + view all Dlamini, N; Slim, M; Kirkham, F; Shroff, M; Dirks, P; Moharir, M; MacGregor, D; Robertson, A; deVeber, G; Logan, W; - view fewer (2020) Predicting Ischemic Risk Using Blood Oxygen Level–Dependent MRI in Children with Moyamoya. American Journal of Neuroradiology , 41 (1) pp. 160-166. 10.3174/ajnr.A6324.

Docter, Daniel; Dawood, Yousif; Jacobs, Karl; Hagoort, Jaco; Oostra, Roelof-Jan; van den Hoff, Maurice JB; Arthurs, Owen J; Docter, Daniel; Dawood, Yousif; Jacobs, Karl; Hagoort, Jaco; Oostra, Roelof-Jan; van den Hoff, Maurice JB; Arthurs, Owen J; de Bakker, Bernadette S; - view fewer (2022) Microfocus computed tomography for fetal postmortem imaging: an overview. Pediatric Radiology , 53 (4) pp. 632-639. 10.1007/s00247-022-05517-1.

Doherty, Carolynne M; Howard, Paige; O'Donnell, Luke F; Zuccarino, Riccardo; Wastling, Stephen; Milev, Evelin; Banks, Tina; ... Reilly, Mary M; + view all Doherty, Carolynne M; Howard, Paige; O'Donnell, Luke F; Zuccarino, Riccardo; Wastling, Stephen; Milev, Evelin; Banks, Tina; Shah, Sachit; Zafeiropoulos, Nick; Stephens, Katherine J; Sarkozy, Anna; Grider, Tiffany; Feely, Shawna ME; Manzur, Adnan; Shy, Rosemary R; Skorupinska, Mariola; Pipis, Menelaos; Nicolaisen, Emma; McDowell, Amy; Dilek, Nuran; Rossor, Alexander M; Laura, Matilde; Clark, Christopher; Muntoni, Francesco; Thedens, Daniel; Thornton, John; Morrow, Jasper M; Shy, Michael E; Reilly, Mary M; - view fewer (2024) Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A. Annals of Neurology 10.1002/ana.26934. (In press).

Doherty, CM; Morrow, JM; Zuccarino, R; Howard, P; Wastling, S; Pipis, M; Zafeiropoulos, N; ... Reilly, MM; + view all Doherty, CM; Morrow, JM; Zuccarino, R; Howard, P; Wastling, S; Pipis, M; Zafeiropoulos, N; Stephens, KJ; Grider, T; Feely, SME; Nopoulous, P; Skorupinska, M; Milev, E; Nicolaisen, E; Dudzeic, M; McDowell, A; Dilek, N; Muntoni, F; Rossor, AM; Shah, S; Laura, M; Yousry, TA; Thedens, D; Thornton, J; Shy, ME; Reilly, MM; - view fewer (2024) Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A. Annals of Clinical and Translational Neurology 10.1002/acn3.51979. (In press).

Doisy, Mathilde; Vacca, Ophélie; Fergus, Claire; Gileadi, Talia; Verhaeg, Minou; Saoudi, Amel; Tensorer, Thomas; ... Goyenvalle, Aurélie; + view all Doisy, Mathilde; Vacca, Ophélie; Fergus, Claire; Gileadi, Talia; Verhaeg, Minou; Saoudi, Amel; Tensorer, Thomas; Garcia, Luis; Kelly, Vincent P; Montanaro, Federica; Morgan, Jennifer E; van Putten, Maaike; Aartsma-Rus, Annemieke; Vaillend, Cyrille; Muntoni, Francesco; Goyenvalle, Aurélie; - view fewer (2023) Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model. Biomedicines , 11 (12) , Article 3243. 10.3390/biomedicines11123243.

Domenger, C; Allais, M; François, V; Léger, A; Lecomte, E; Montus, M; Servais, L; ... Le Guiner, C; + view all Domenger, C; Allais, M; François, V; Léger, A; Lecomte, E; Montus, M; Servais, L; Voit, T; Moullier, P; Audic, Y; Le Guiner, C; - view fewer (2018) RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect. Molecular Therapy: Nucleic Acids , 10 pp. 277-291. 10.1016/j.omtn.2017.12.008.

Domingos, J; Ricotti, V; Martinez, AE; Muntoni, F; (2018) Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy. Neuromuscular Disorders , 28 (2) pp. 176-177. 10.1016/j.nmd.2017.11.015.

Doniza, Liad; Lee, Mitchel; Blumenfeld-Katzir, Tamar; Artzi, Moran; Ben-Bashat, Dafna; Aizenstein, Orna; Radunsky, Dvir; ... Ben-Eliezer, Noam; + view all Doniza, Liad; Lee, Mitchel; Blumenfeld-Katzir, Tamar; Artzi, Moran; Ben-Bashat, Dafna; Aizenstein, Orna; Radunsky, Dvir; Kirkham, Fenella; Thomas, George; Weil, Rimona S; Shmueli, Karin; Ben-Eliezer, Noam; - view fewer (2025) Noise propagation and MP-PCA image denoising for high-resolution quantitative R₂*, T₂*, and magnetic susceptibility mapping (QSM). IEEE Transactions on Biomedical Engineering 10.1109/TBME.2025.3566561. (In press).

Doreste, B; Torelli, S; Morgan, J; (2020) Irradiation dependent inflammatory response may enhance satellite cell engraftment. Scientific Reports , 10 , Article 11119. 10.1038/s41598-020-68098-9.

Dowling, James J; Müller-Felber, Wolfgang; Smith, Barbara K; Bönnemann, Carsten G; Kuntz, Nancy L; Muntoni, Francesco; Servais, Laurent; ... INCEPTUS investigators, .; + view all Dowling, James J; Müller-Felber, Wolfgang; Smith, Barbara K; Bönnemann, Carsten G; Kuntz, Nancy L; Muntoni, Francesco; Servais, Laurent; Alfano, Lindsay N; Beggs, Alan H; Bilder, Deborah A; Blaschek, Astrid; Duong, Tina; Graham, Robert J; Jain, Minal; Lawlor, Michael W; Lee, Jun; Coats, Julie; Lilien, Charlotte; Lowes, Linda P; MacBean, Victoria; Neuhaus, Sarah; Noursalehi, Mojtaba; Pitts, Teresa; Finlay, Caroline; Christensen, Sarah; Rafferty, Gerrard; Seferian, Andreea M; Tsuchiya, Etsuko; James, Emma S; Miller, Weston; Sepulveda, Bryan; Vila, Maria Candida; Prasad, Suyash; Rico, Salvador; Shieh, Perry B; INCEPTUS investigators, .; - view fewer (2022) INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Journal of Neuromuscular Diseases , 9 (4) pp. 503-516. 10.3233/JND-210781.

Dowling, MM; Kirkham, FJ; (2016) Stroke in sickle cell anaemia is more than stenosis and thrombosis: the role of anaemia and hyperemia in ischaemia. [Editorial comment]. British Journal of Haematology 10.1111/bjh.14422.

Dowling, MM; Quinn, CT; Ramaciotti, C; Kanter, J; Osunkwo, I; Inusa, B; Iyer, R; ... PFAST Investigators, .; + view all Dowling, MM; Quinn, CT; Ramaciotti, C; Kanter, J; Osunkwo, I; Inusa, B; Iyer, R; Kwiatkowski, JL; Johnson, C; Rhodes, M; Owen, W; Strouse, JJ; Panepinto, JA; Neumayr, L; Sarnaik, S; Plumb, PA; Dlamini, N; Kirkham, F; Hynan, LS; PFAST Investigators, .; - view fewer (2017) Increased prevalence of potential right-to-left shunting in children with sickle cell anaemia and stroke. British Journal of Haematology , 176 (2) pp. 300-308. 10.1111/bjh.14391.

Downes, M; (2016) The development and assessment of executive functioning in preschool children with and without sickle cell anaemia. Doctoral thesis , UCL (University College London).

Downes, M; Bathelt, J; De Haan, M; (2017) Event-related potential measures of executive functioning from preschool to adolescence. Developmental Medicine and Child Neurology , 59 (6) pp. 581-590. 10.1111/dmcn.13395.

Downes, M; Berg, C; Kirkham, FJ; Kischkel, L; McMurray, I; de Haan, M; (2018) Task utility and norms for the Preschool Executive Task Assessment (PETA). Child Neuropsychology , 24 (6) pp. 784-798. 10.1080/09297049.2017.1333092.

Downes, M; De Haan, M; Kirkham, FJ; Telfer, PT; (2017) Parent reported sleep problems in preschool children with sickle cell anemia and controls in East London. Pediatric Blood & Cancer , 64 (6) , Article e26337. 10.1002/pbc.26337.

Downes, M; de Haan, M; O'Leary, T; Telfer, PT; Kirkham, FJ; (2018) Temperament in preschool children with sickle cell anaemia. Archives of Disease in Childhood 10.1136/archdischild-2018-315054. (In press).

Downes, M; de Haan, M; Telfer, PT; Kirkham, FJ; (2019) The Role of Family Functioning in the Development of Executive Functions in Preschool Children with Sickle Cell Anemia. Developmental Neuropsychology , 44 (6) pp. 452-467. 10.1080/87565641.2019.1660779.

Downes, M; Greenaway, R; Clark, M; Helen Cross, J; Jolleff, N; Harkness, W; Kaliakatsos, M; ... Neville, BG; + view all Downes, M; Greenaway, R; Clark, M; Helen Cross, J; Jolleff, N; Harkness, W; Kaliakatsos, M; Boyd, S; White, S; Neville, BG; - view fewer (2015) Outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression. Epilepsia , 56 (11) pp. 1760-1766. 10.1111/epi.13132.

Downes, M; Kelly, D; Day, K; Marlow, N; de Haan, M; (2018) Visual attention control differences in 12-month-old preterm infants. Infant Behavior and Development , 50 pp. 180-188. 10.1016/j.infbeh.2018.01.002.

Downes, M; Kirkham, FJ; Berg, C; Telfer, P; De Haan, M; (2019) Executive performance on the preschool executive task assessment in children with sickle cell anemia and matched controls. Child Neuropsychology , 25 (2) pp. 278-285. 10.1080/09297049.2018.1491962.

Downes, M; Kirkham, FJ; Telfer, PT; de Haan, M; (2018) Assessment of Executive Functions in Preschool Children With Sickle Cell Anemia. Journal of the International Neuropsychological Society , 24 (9) , Article Special Issue. 10.1017/S1355617718000255.

Downes, M; Kirkham, FJ; Telfer, PT; De Haan, M; (2018) Altered Neurophysiological Processing of Auditory Attention in Preschool Children With Sickle Cell Disease. Journal of Pediatric Psychology , 43 (8) pp. 856-869. 10.1093/jpepsy/jsx115.

Drabek-Maunder, Emily R; Mankad, Kshitij; Aquilina, Kristian; Dean, Jamie A; Nisbet, Andrew; Clark, Chris A; (2024) Using diffusion MRI to understand white matter damage and the link between brain microstructure and cognitive deficits in paediatric medulloblastoma patients. European Journal of Radiology , 177 , Article 111562. 10.1016/j.ejrad.2024.111562.

Dragoumi, P; O'Callaghan, F; Zafeiriou, DI; (2018) Diagnosis of tuberous sclerosis complex in the fetus. European Journal of Paediatric Neurology , 22 (6) pp. 1027-1034. 10.1016/j.ejpn.2018.08.005.

Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju; Gissen, Paul; Duff, Claire; Islam, Madeha; Gagliano, Onelia; Pramod, Hema; Rashidi, Hassan; Kurian, Manju; Gissen, Paul; Baruteau, Julien; - view fewer (2024) Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation. Stem Cell Research , 76 , Article 103365. 10.1016/j.scr.2024.103365.

Duffy, BA; Chun, KP; Ma, D; Lythgoe, MF; Scott, RC; (2014) Dexamethasone exacerbates cerebral edema and brain injury following lithium-pilocarpine induced status epilepticus. Neurobiol Dis , 63 pp. 229-236. 10.1016/j.nbd.2013.12.001.

Dulal, S; Liégeois, F; Osrin, D; Kuczynski, A; Manandhar, D; Shrestha, B; Sen, A; ... Audrey, P; + view all Dulal, S; Liégeois, F; Osrin, D; Kuczynski, A; Manandhar, D; Shrestha, B; Sen, A; Saville, N; Devakumar, D; Audrey, P; - view fewer (2018) Does antenatal micronutrient supplementation improve children’s cognitive function? Evidence from the follow-up of a double-blind randomised controlled trial in Nepal. BMJ Global Health , 3 (1) , Article e000527. 10.1136/bmjgh-2017-000527.

Dunaway Young, S; McGrattan, K; Johnson, E; van der Heul, M; Duong, T; Bakke, M; Werlauff, U; ... Lofra, RM; + view all Dunaway Young, S; McGrattan, K; Johnson, E; van der Heul, M; Duong, T; Bakke, M; Werlauff, U; Pasternak, A; Cattaneo, C; Hoffman, K; Fanelli, L; Breaks, A; Allison, K; Baranello, G; Finkel, R; Coratti, G; Lofra, RM; - view fewer (2023) Development of an International SMA Bulbar Assessment for Inter-professional Administration. Journal of neuromuscular diseases , 10 (4) pp. 639-652. 10.3233/JND-221672.

Durrant, C; Wong, HS; Cole, TJ; Hutchon, B; Collier, L; Wright, A; George, C; ... Huertas Ceballos, A; + view all Durrant, C; Wong, HS; Cole, TJ; Hutchon, B; Collier, L; Wright, A; George, C; De Haan, M; Huertas Ceballos, A; - view fewer (2020) Developmental trajectories of infants born at less than 30 weeks' gestation on the Bayley-III Scales. Archives of Disease in Childhood. Fetal and Neonatal Edition , 105 (6) pp. 623-627. 10.1136/archdischild-2019-317810.

Dyrby, Tim B; Søgaard, Lise V; Hall, Matt G; Ptito, Maurice; Alexander, Daniel C; (2013) Contrast and stability of the axon diameter index from microstructure imaging with diffusion MRI. Magnetic Resonance in Medicine , 70 (3) 711 - 721. 10.1002/mrm.24501.

Dzieciol, AM; Bachevalier, J; Saleem, KS; Gadian, DG; Saunders, R; Chong, WK; Banks, T; ... Vargha-Khadem, F; + view all Dzieciol, AM; Bachevalier, J; Saleem, KS; Gadian, DG; Saunders, R; Chong, WK; Banks, T; Mishkin, M; Vargha-Khadem, F; - view fewer (2017) Hippocampal and diencephalic pathology in developmental amnesia. Cortex , 86 pp. 33-44. 10.1016/j.cortex.2016.09.016.

E

Eccleston, C; Fisher, E; Howard, RF; Slater, R; Forgeron, P; Palermo, TM; Birnie, KA; ... Wood, C; + view all Eccleston, C; Fisher, E; Howard, RF; Slater, R; Forgeron, P; Palermo, TM; Birnie, KA; Anderson, BJ; Chambers, CT; Crombez, G; Ljungman, G; Jordan, I; Jordan, Z; Roberts, C; Schechter, N; Sieberg, CB; Tibboel, D; Walker, SM; Wilkinson, D; Wood, C; - view fewer (2021) Delivering transformative action in paediatric pain: a Lancet Child & Adolescent Health Commission. The Lancet Child & Adolescent Health , 5 (1) pp. 47-87. 10.1016/S2352-4642(20)30277-7.

Edlmann, E; Thelin, EP; Caldwell, K; Turner, C; Whitfield, P; Bulters, D; Holton, P; ... Dex-CSDH trial collaborative and BNTRC collaborative.; + view all Edlmann, E; Thelin, EP; Caldwell, K; Turner, C; Whitfield, P; Bulters, D; Holton, P; Suttner, N; Owusu-Agyemang, K; Al-Tamimi, YZ; Gatt, D; Thomson, S; Anderson, IA; Richards, O; Gherle, M; Toman, E; Nandi, D; Kane, P; Pantaleo, B; Davis-Wilkie, C; Tarantino, S; Barton, G; Marcus, HJ; Chari, A; Belli, A; Bond, S; Gafoor, R; Dawson, S; Whitehead, L; Brennan, P; Wilkinson, I; Kolias, AG; Hutchinson, PJA; Dex-CSDH trial collaborative and BNTRC collaborative.; - view fewer (2019) Dex-CSDH randomised, placebo-controlled trial of dexamethasone for chronic subdural haematoma: report of the internal pilot phase. Scientific Reports , 9 (1) , Article 5885. 10.1038/s41598-019-42087-z.

Edwards, HB; Mallick, AA; O'Callaghan, FJK; (2017) Immunotherapy for arterial ischaemic stroke in childhood: a systematic review. Archives of Disease in Childhood , 102 (5) pp. 410-415. 10.1136/archdischild-2016-311034.

El-Dib, M; Abend, NS; Austin, T; Boylan, G; Chock, V; Cilio, MR; Greisen, G; ... McCaul, MC; + view all El-Dib, M; Abend, NS; Austin, T; Boylan, G; Chock, V; Cilio, MR; Greisen, G; Hellström-Westas, L; Lemmers, P; Pellicer, A; Pressler, RM; Sansevere, A; Szakmar, E; Tsuchida, T; Vanhatalo, S; Wusthoff, CJ; Bonifacio, S; Wintermark, P; Aly, H; Chang, T; Chau, V; Glass, H; Lemmon, M; Massaro, A; Wusthoff, C; deVeber, G; Pardo, A; McCaul, MC; - view fewer (2022) Neuromonitoring in neonatal critical care part II: extremely premature infants and critically ill neonates. Pediatric Research 10.1038/s41390-022-02392-2. (In press).

El-Dib, M; Abend, NS; Austin, T; Boylan, G; Chock, V; Cilio, MR; Greisen, G; ... McCaul, MC; + view all El-Dib, M; Abend, NS; Austin, T; Boylan, G; Chock, V; Cilio, MR; Greisen, G; Hellström-Westas, L; Lemmers, P; Pellicer, A; Pressler, RM; Sansevere, A; Tsuchida, T; Vanhatalo, S; Wusthoff, CJ; Bonifacio, S; Wintermark, P; Aly, H; Chang, T; Chau, V; Glass, H; Lemmon, M; Massaro, A; Wusthoff, C; deVeber, G; Pardo, A; McCaul, MC; - view fewer (2022) Neuromonitoring in neonatal critical care part I: neonatal encephalopathy and neonates with possible seizures. Pediatric Research 10.1038/s41390-022-02393-1. (In press).

Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; Zorzato, F; - view fewer (2019) Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. Human Molecular Genetics , 28 (11) pp. 1872-1884. 10.1093/hmg/ddz025.

Eldar, E; Roth, C; Dayan, P; Dolan, RJ; (2018) Decodability of Reward Learning Signals Predicts Mood Fluctuations. Current Biology , 28 (9) 1433-1439.e7. 10.1016/j.cub.2018.03.038.

Eleftheriou, D; Ganesan, V; Hong, Y; Klein, NJ; Brogan, PA; (2015) Endothelial Repair in Childhood Arterial Ischaemic Stroke with Cerebral Arteriopathy. Cerebrovascular Diseases EXTRA , 5 (2) pp. 68-74. 10.1159/000381963.

Eleftheriou, D; Moraitis, E; Hong, Y; Turmaine, M; Venturini, C; Ganesan, V; Breuer, J; ... Brogan, P; + view all Eleftheriou, D; Moraitis, E; Hong, Y; Turmaine, M; Venturini, C; Ganesan, V; Breuer, J; Klein, N; Brogan, P; - view fewer (2019) Microparticle-mediated VZV propagation and endothelial activation: Mechanism of VZV vasculopathy. Neurology 10.1212/WNL.0000000000008885. (In press).

Elfeky, R; Shah, RM; Unni, MN; Ottaviano, G; Rao, K; Chiesa, R; Amrolia, P; ... Veys, P; + view all Elfeky, R; Shah, RM; Unni, MN; Ottaviano, G; Rao, K; Chiesa, R; Amrolia, P; Worth, A; Flood, T; Abinun, M; Hambleton, S; Cant, AJ; Gilmour, K; Adams, S; Ahsan, G; Barge, D; Gennery, AR; Qasim, W; Slatter, M; Veys, P; - view fewer (2019) New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. Journal of Allergy and Clinical Immunology , 144 (1) pp. 280-293. 10.1016/j.jaci.2019.01.030.

Elfeky, RA; Furtado-Silva, JM; Chiesa, R; Rao, K; Amrolia, P; Lucchini, G; Gilmour, K; ... Veys, P; + view all Elfeky, RA; Furtado-Silva, JM; Chiesa, R; Rao, K; Amrolia, P; Lucchini, G; Gilmour, K; Adams, S; Bibi, S; Worth, A; Thrasher, AJ; Qasim, W; Veys, P; - view fewer (2018) One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years. [Letter]. Journal of Allergy and Clinical Immunology , 142 (5) 1654-1656.e7. 10.1016/j.jaci.2018.06.042.

Elfeky, RA; Furtado-Silva, JM; Chiesa, R; Rao, K; Lucchini, G; Amrolia, P; Worth, A; ... Veys, P; + view all Elfeky, RA; Furtado-Silva, JM; Chiesa, R; Rao, K; Lucchini, G; Amrolia, P; Worth, A; Gaspar, B; Qasim, W; Veys, P; - view fewer (2018) Umbilical cord blood transplantation without in vivo T-cell depletion for children with MHC class II deficiency. Journal of Allergy and Clinical Immunology , 141 (6) 2279-2282.e2. 10.1016/j.jaci.2017.10.051.

Elfeky, Reem Ahmed; (2020) Donor T cells with inducible caspase safety switch following haploidentical transplants. Doctoral thesis (M.D(Res)), UCL (University College London).

Elliott, CL; Arthurs, OJ; Young, J; (2017) Current status of UK radiology trainee experience in post-mortem imaging: A questionnaire-based survey. Journal of Forensic Radiology and Imaging , 9 pp. 31-35. 10.1016/j.jofri.2017.03.005.

Elward, Rachael; Limond, Jennifer; Chareyron, Loïc J; Ethapemi, Janice; Vargha-Khadem, Faraneh; (2023) Using recognition testing to support semantic learning in developmental amnesia. Neuropsychological Rehabilitation pp. 1-20. 10.1080/09602011.2023.2275825. (In press).

Elward, RL; Dzieciol, AM; Vargha-Khadem, F; (2019) Little evidence for fast mapping in adults with developmental amnesia. Cognitive Neuroscience , 10 (4) pp. 215-217. 10.1080/17588928.2019.1593123.

Elward, RL; Rugg, MD; Vargha-Khadem, F; (2021) When the brain, but not the person, remembers: Cortical reinstatement is modulated by retrieval goal in developmental amnesia. Neuropsychologia , 154 , Article 107788. 10.1016/j.neuropsychologia.2021.107788.

Elward, RL; Vargha-Khadem, F; (2018) Semantic Memory in Developmental Amnesia. Neuroscience Letters , 680 pp. 23-30. 10.1016/j.neulet.2018.04.040.

Eriksson, Maria H; Baldeweg, Torsten; Pressler, Ronit; Boyd, Stewart G; Huber, Reto; Cross, J Helen; Bölsterli, Bigna K; Eriksson, Maria H; Baldeweg, Torsten; Pressler, Ronit; Boyd, Stewart G; Huber, Reto; Cross, J Helen; Bölsterli, Bigna K; Chan, Samantha YS; - view fewer (2022) Sleep homeostasis, seizures, and cognition in children with focal epilepsy. Developmental Medicine & Child Neurology 10.1111/dmcn.15403. (In press).

Eriksson, Maria H; Ripart, Mathilde; Piper, Rory J; Moeller, Friederike; Das, Krishna B; Eltze, Christin; Cooray, Gerald; ... Wagstyl, Konrad; + view all Eriksson, Maria H; Ripart, Mathilde; Piper, Rory J; Moeller, Friederike; Das, Krishna B; Eltze, Christin; Cooray, Gerald; Booth, John; Whitaker, Kirstie J; Chari, Aswin; Martin Sanfilippo, Patricia; Caballero, Ana Perez; Menzies, Lara; McTague, Amy; Tisdall, Martin M; Cross, J Helen; Baldeweg, Torsten; Adler, Sophie; Wagstyl, Konrad; - view fewer (2023) Predicting seizure outcome after epilepsy surgery: do we need more complex models, larger samples, or better data? Epilepsia , 64 (8) pp. 2014-2026. 10.1111/epi.17637.

Eriksson, Maria H; Whitaker, Kirstie J; Booth, John; Piper, Rory J; Chari, Aswin; Martin Sanfilippo, Patricia; Caballero, Ana Perez; ... Baldeweg, Torsten; + view all Eriksson, Maria H; Whitaker, Kirstie J; Booth, John; Piper, Rory J; Chari, Aswin; Martin Sanfilippo, Patricia; Caballero, Ana Perez; Menzies, Lara; McTague, Amy; Adler, Sophie; Wagstyl, Konrad; Tisdall, Martin M; Cross, J Helen; Baldeweg, Torsten; - view fewer (2023) Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes. Epilepsia 10.1111/epi.17670. (In press).

Eriksson, Maria Helena; (2023) Clinical and cognitive outcomes after neurosurgical treatment for epilepsy in children. Doctoral thesis (Ph.D), UCL (University College London).

European Society for Paediatric Gastroenterology, Hepatology & N; European Academy of Paediatrics (EAP); European Society for Paediatric Research (ESPR); European Academy for Allergy and Clinical Immunology (EAACI); Federation of International Societies for Paediatric Gastroenter; Latin American Society for Pediatric Gastroenterology, Hepatolog; Pan Arab Society for Pediatric Gastroenterology and Nutrition; ... Asia Pacific Academy of Pediatric Allergy, Respirology & Immunol; + view all European Society for Paediatric Gastroenterology, Hepatology & N; European Academy of Paediatrics (EAP); European Society for Paediatric Research (ESPR); European Academy for Allergy and Clinical Immunology (EAACI); Federation of International Societies for Paediatric Gastroenter; Latin American Society for Pediatric Gastroenterology, Hepatolog; Pan Arab Society for Pediatric Gastroenterology and Nutrition; Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepato; North American Society for Pediatric Gastroenterology, Hepatolog; World Allergy Organization (WAO); Asia Pacific Academy of Pediatric Allergy, Respirology & Immunol; - view fewer (2024) World Health Organization (WHO) guideline on the complementary feeding of infants and young children aged 6−23 months 2023: A multisociety response. Journal of Pediatric Gastroenterology and Nutrition , 79 (1) pp. 181-188. 10.1002/jpn3.12248.

Eve, M; O'Keeffe, F; Jhuty, S; Ganesan, V; Brown, G; Murphy, T; (2016) Computerized Working-Memory Training for Children Following Arterial Ischemic Stroke: A Pilot Study With Long-Term Follow-Up. Applied Neuropsychology: Child , 5 (4) pp. 273-282. 10.1080/21622965.2015.1055563.

F

Fabrizi, L; Verriotis, M; Williams, G; Lee, A; Meek, J; Olhede, S; Fitzgerald, M; (2016) Encoding of mechanical nociception differs in the adult and infant brain. Scientific Reports , 6 , Article 28642. 10.1038/srep28642.

Fagan, A; Arthurs, OJ; Sebire, NJ; Shelmerdine, SC; (2022) Cinematic rendering of paediatric musculoskeletal pathologies: initial experiences with CT. Clinical Radiology , 77 (4) pp. 274-282. 10.1016/j.crad.2022.01.033.

Falzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farnè, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; ... Ferlini, Alessandra; + view all Falzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farnè, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; Muntoni, Francesco; Ferlini, Alessandra; - view fewer (2023) mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies. Scientific Reports , 13 , Article 15942. 10.1038/s41598-023-43134-6.

Falzarano, MS; Rossi, R; Grilli, A; Fang, M; Osman, H; Sabatelli, P; Antoniel, M; ... Ferlini, A; + view all Falzarano, MS; Rossi, R; Grilli, A; Fang, M; Osman, H; Sabatelli, P; Antoniel, M; Lu, Z; Li, W; Selvatici, R; Al-Khalili, C; Gualandi, F; Bicciato, S; Torelli, S; Ferlini, A; - view fewer (2021) Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases. Frontiers in Physiology , 12 , Article 716471. 10.3389/fphys.2021.716471.

Fan, Xue-Ru; Wang, Yin-Shan; Chang, Da; Yang, Ning; Rong, Meng-Jie; Zhang, Zhe; He, Ye; ... Zuo, Xi-Nian; + view all Fan, Xue-Ru; Wang, Yin-Shan; Chang, Da; Yang, Ning; Rong, Meng-Jie; Zhang, Zhe; He, Ye; Hou, Xiaohui; Zhou, Quan; Gong, Zhu-Qing; Cao, Li-Zhi; Dong, Hao-Ming; Nie, Jing-Jing; Chen, Li-Zhen; Zhang, Qing; Zhang, Jia-Xin; Zhang, Lei; Li, Hui-Jie; Bao, Min; Chen, Antao; Chen, Jing; Chen, Xu; Ding, Jinfeng; Dong, Xue; Du, Yi; Feng, Chen; Feng, Tingyong; Fu, Xiaolan; Ge, Li-Kun; Hong, Bao; Hu, Xiaomeng; Huang, Wenjun; Jiang, Chao; Li, Li; Li, Qi; Li, Su; Liu, Xun; Mo, Fan; Qiu, Jiang; Su, Xue-Quan; Wei, Gao-Xia; Wu, Yiyang; Xia, Haishuo; Yan, Chao-Gan; Yan, Zhi-Xiong; Yang, Xiaohong; Zhang, Wenfang; Zhao, Ke; Zhu, Liqi; The Chinese Colour Nest Consortium (CCNC); The Lifespan Brain Chart Consortium (LBCC); Zuo, Xi-Nian; - view fewer (2023) A longitudinal resource for population neuroscience of school-age children and adolescents in China. Scientific Data , 10 , Article 545. 10.1038/s41597-023-02377-8.

Fan, H; Gilbert, R; O'Callaghan, F; Li, L; (2020) Associations between macrolide antibiotics prescribing during pregnancy and adverse child outcomes in the UK: population based cohort study. BMJ , 368 , Article m331. 10.1136/bmj.m331.

Faramand, AM; Barnes, N; Harrison, S; Gunny, R; Jacques, T; Tahir, MZ; Varadkar, SM; ... Tisdall, MM; + view all Faramand, AM; Barnes, N; Harrison, S; Gunny, R; Jacques, T; Tahir, MZ; Varadkar, SM; Cross, HJ; Harkness, W; Tisdall, MM; - view fewer (2018) Seizure and cognitive outcomes after resection of glioneuronal tumors in children. Epilepsia , 59 (1) pp. 170-178. 10.1111/epi.13961.

Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; ... Tan, Y; + view all Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; Manzur, A; Thrasher, A; Greenhalgh, A; Parker, A; Sanchis-Juan, A; Richter, A; Gardham, A; Lawrie, A; Sohal, A; Creaser-Myers, A; Frary, A; Greinacher, A; Themistocleous, A; Peacock, AJ; Marshall, A; Mumford, A; Rice, A; Webster, A; Brady, A; Koziell, A; Manson, A; Chandra, A; Hensiek, A; in't Veld, AH; Maw, A; Kelly, AM; Moore, A; Noordegraaf, AV; Attwood, A; Herwadkar, A; Ghofrani, A; Houweling, AC; Girerd, B; Furie, B; Treacy, CM; Millar, CM; Sewell, C; Roughley, C; Titterton, C; Williamson, C; Hadinnapola, C; Deshpande, C; Toh, C-H; Bacchelli, C; Patch, C; Van Geet, C; Babbs, C; Bryson, C; Penkett, CJ; Rhodes, CJ; Watt, C; Bethune, C; Booth, C; Lentaigne, C; McJannet, C; Church, C; French, C; Samarghitean, C; Halmagyi, C; Gale, D; Greene, D; Hart, D; Allsup, D; Bennett, D; Edgar, D; Kiely, DG; Gosal, D; Perry, DJ; Keeling, D; Montani, D; Shipley, D; Whitehorn, D; Fletcher, D; Krishnakumar, D; Grozeva, D; Kumararatne, D; Thompson, D; Josifova, D; Maher, E; Wong, EKS; Murphy, E; Dewhurst, E; Louka, E; Rosser, E; Chalmers, E; Colby, E; Drewe, E; McDermott, E; Thomas, E; Staples, E; Clement, E; Matthews, E; Wakeling, E; Oksenhendler, E; Turro, E; Reid, E; Wassmer, E; Raymond, FL; Hu, F; Kennedy, F; Soubrier, F; Flinter, F; Kovacs, G; Polwarth, G; Ambegaonkar, G; Arno, G; Hudson, G; Woods, G; Coghlan, G; Hayman, G; Arumugakani, G; Schotte, G; Cook, HT; Alachkar, H; Allen, HL; Lango-Allen, H; Stark, H; Stauss, H; Schulze, H; Boggard, HJ; Baxendale, H; Dolling, H; Firth, H; Gall, H; Watson, H; Longhurst, H; Markus, HS; Watkins, H; Simeoni, I; Emmerson, I; Roberts, I; Quinti, I; Wanjiku, I; Gibbs, JSR; Thaventhiran, J; Whitworth, J; Hurst, J; Collins, J; Suntharalingam, J; Payne, J; Thachil, J; Martin, JM; Martin, J; Carmichael, J; Maimaris, J; Paterson, J; Pepke-Zaba, J; Heemskerk, JWM; Gebhart, J; Davis, J; Pasi, J; Bradley, JR; Wharton, J; Stephens, J; Rankin, J; Anderson, J; Vogt, J; von Ziegenweldt, J; Rehnstrom, K; Megy, K; Talks, K; Peerlinck, K; Yates, K; Freson, K; Stirrups, K; Gomez, K; Smith, KGC; Carss, K; Rue-Albrecht, K; Gilmour, K; Masati, L; Scelsi, L; Southgate, L; Ranganathan, L; Ginsberg, L; Devlin, L; Willcocks, L; Ormondroyd, L; Lorenzo, L; Harper, L; Allen, L; Daugherty, L; Chitre, M; Kurian, M; Humbert, M; Tischkowitz, M; Bitner-Glindzicz, M; Erwood, M; Scully, M; Veltman, M; Caulfield, M; Layton, M; McCarthy, M; Ponsford, M; Toshner, M; Bleda, M; Wilkins, M; Mathias, M; Reilly, M; Afzal, M; Brown, M; Rondina, M; Stubbs, M; Haimel, M; Lees, M; Laffan, MA; Browning, M; Gattens, M; Richards, M; Michaelides, M; Lambert, MP; Makris, M; De Vries, M; Mahdi-Rogers, M; Saleem, M; Thomas, M; Holder, M; Eyries, M; Clements-Brod, N; Canham, N; Dormand, N; Van Zuydam, N; Kingston, N; Ghali, N; Cooper, N; Morrell, NW; Yeatman, N; Roy, N; Shamardina, O; Alavijeh, OS; Gresele, P; Nurden, P; Chinnery, P; Deegan, P; Yong, P; Yu-Wai-Man, P; Corris, PA; Calleja, P; Gissen, P; Bolton-Maggs, P; Rayner-Matthews, P; Ghataorhe, PK; Gordins, P; Stein, P; Collins, P; Dixon, P; Kelleher, P; Ancliff, P; Yu, P; Tait, RC; Linger, R; Doffinger, R; Machado, R; Kazmi, R; Sargur, R; Favier, R; Tan, R; Liesner, R; Antrobus, R; Sandford, R; Scott, R; Trembath, R; Horvath, R; Hadden, R; MackenzieRoss, RV; Henderson, R; MacLaren, R; James, R; Ghurye, R; DaCosta, R; Hague, R; Mapeta, R; Armstrong, R; Noorani, S; Murng, S; Santra, S; Tuna, S; Johnson, S; Chong, S; Lear, S; Walker, S; Goddard, S; Mangles, S; Westbury, S; Mehta, S; Hackett, S; Nejentsev, S; Moledina, S; Bibi, S; Meehan, S; Othman, S; Revel-Vilk, S; Holden, S; McGowan, S; Staines, S; Savic, S; Burns, S; Grigoriadou, S; Papadia, S; Ashford, S; Schulman, S; Ali, S; Park, S-M; Davies, S; Stock, S; Ali, S; Deevi, SVV; Graf, S; Ghio, S; Wort, SJ; Jolles, S; Austin, S; Welch, S; Meacham, S; Rankin, S; Walker, S; Seneviratne, S; Holder, S; Sivapalaratnam, S; Richardson, S; Kuijpers, T; Kuijpers, TW; Bariana, TK; Bakchoul, T; Everington, T; Renton, T; Young, T; Aitman, T; Warner, TQ; Vale, T; Hammerton, T; Pollock, V; Matser, V; Cookson, V; Clowes, V; Qasim, W; Wei, W; Erber, WN; Ouwehand, WH; Astle, W; Egner, W; Turek, W; Henskens, Y; Tan, Y; - view fewer (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports , 8 , Article 13376. 10.1038/s41598-018-31524-0.

Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; ... Huissoon, A; + view all Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; Thrasher, A; Greenhalgh, A; Parker, A; Sanchis-Juan, A; Richter, A; Gardham, A; Lawrie, A; Sohal, A; Creaser-Myers, A; Frary, A; Greinacher, A; Themistocleous, A; Peacock, AJ; Marshall, A; Mumford, A; Rice, A; Webster, A; Brady, A; Koziell, A; Manson, A; Chandra, A; Hensiek, A; Veld, AHIT; Maw, A; Kelly, AM; Moore, A; Vonk Noordegraaf, A; Attwood, A; Herwadkar, A; Ghofrani, A; Houweling, AC; Girerd, B; Furie, B; Treacy, CM; Millar, CM; Sewell, C; Roughley, C; Titterton, C; Williamson, C; Hadinnapola, C; Deshpande, C; Toh, CH; Bacchelli, C; Patch, C; Geet, CV; Babbs, C; Bryson, C; Penkett, CJ; Rhodes, CJ; Watt, C; Bethune, C; Booth, C; Lentaigne, C; McJannet, C; Church, C; French, C; Samarghitean, C; Halmagyi, C; Gale, D; Greene, D; Hart, D; Allsup, D; Bennett, D; Edgar, D; Kiely, DG; Gosal, D; Perry, DJ; Keeling, D; Montani, D; Shipley, D; Whitehorn, D; Fletcher, D; Krishnakumar, D; Grozeva, D; Kumararatne, D; Thompson, D; Josifova, D; Maher, E; Wong, EKS; Murphy, E; Furnell, A; Huissoon, A; - view fewer (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Scientific Reports , 8 , Article 1300. 10.1038/s41598-017-14403-y.

Farrell, AT; Panepinto, J; Carroll, CP; Darbari, DS; Desai, AA; King, AA; Adams, RJ; ... Zempsky, WT; + view all Farrell, AT; Panepinto, J; Carroll, CP; Darbari, DS; Desai, AA; King, AA; Adams, RJ; Barber, TD; Brandow, AM; DeBaun, MR; Donahue, MJ; Gupta, K; Hankins, JS; Kameka, M; Kirkham, FJ; Luksenburg, H; Miller, S; Oneal, PA; Rees, DC; Setse, R; Sheehan, VA; Strouse, J; Stucky, CL; Werner, EM; Wood, JC; Zempsky, WT; - view fewer (2019) End points for sickle cell disease clinical trials: patient-reported outcomes, pain, and the brain. Blood Advances , 3 (23) pp. 3982-4001. 10.1182/bloodadvances.2019000882.

Felling, RJ; Rafay, MF; Bernard, TJ; Carpenter, JL; Dlamini, N; Hassanein, SMA; Jordan, LC; ... International Pediatric Stroke Study Group; + view all Felling, RJ; Rafay, MF; Bernard, TJ; Carpenter, JL; Dlamini, N; Hassanein, SMA; Jordan, LC; Noetzel, MJ; Rivkin, MJ; Shapiro, KA; Slim, M; DeVeber, G; International Pediatric Stroke Study Group; - view fewer (2020) Predicting Recovery and Outcome after Pediatric Stroke: Results from the International Pediatric Stroke Study. Annals of Neurology , 87 (6) pp. 840-852. 10.1002/ana.25718.

Feng, Xiyu; Piper, Rory J; Prentice, Freya; Clayden, Jonathan D; Baldeweg, Torsten; (2024) Functional brain connectivity in children with focal epilepsy: A systematic review of functional MRI studies. Seizure , 117 pp. 164-173. 10.1016/j.seizure.2024.02.021.

Feng, Xiyu; Xie, Hua; Piper, Rory J; Prentice, Freya; Eriksson, Maria H; Illapani, Venkata Sita Priyanka; Reppert, Lauren; ... Sepeta, Leigh; + view all Feng, Xiyu; Xie, Hua; Piper, Rory J; Prentice, Freya; Eriksson, Maria H; Illapani, Venkata Sita Priyanka; Reppert, Lauren; Hong, Seok-Jun; Koubeissi, Mohamad; Baldeweg, Torsten; Sepeta, Leigh; - view fewer (2025) Altered thalamic connectivity patterns in pediatric temporal lobe epilepsy: A gradient mapping study. Epilepsia 10.1111/epi.18515.

Ferlini, A; Goyenvalle, A; Muntoni, F; (2021) RNA-targeted drugs for neuromuscular diseases. Science , 371 (6524) pp. 29-31. 10.1126/science.aba4515.

Ferrari, G; Muntoni, F; Tedesco, FS; (2020) Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping. Stem Cell Research , 43 , Article 101688. 10.1016/j.scr.2019.101688.

Ferrini, A; Steel, D; Barwick, K; Kurian, MA; (2021) An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease. Movement Disorders 10.1002/mds.28495. (In press).

Ferrini, A; Stevens, MM; Sattler, S; Rosenthal, N; (2019) Toward Regeneration of the Heart: Bioengineering Strategies for Immunomodulation. Frontiers in Cardiovascular Medicine , 6 , Article 26. 10.3389/fcvm.2019.00026.

Fewtrell, Mary; European Society for Paediatric Gastroenterology, Hepatology & N; European Academy of Paediatrics (EAP); European Society for Paediatric Research (ESPR); European Academy for Allergy and Clinical Immunology (EAACI); Federation of International Societies for Paediatric Gastroenter; Latin American Society for Pediatric Gastroenterology, Hepatolog; ... Asia Pacific Academy of Pediatric Allergy, Respirology & Immunol; + view all Fewtrell, Mary; European Society for Paediatric Gastroenterology, Hepatology & N; European Academy of Paediatrics (EAP); European Society for Paediatric Research (ESPR); European Academy for Allergy and Clinical Immunology (EAACI); Federation of International Societies for Paediatric Gastroenter; Latin American Society for Pediatric Gastroenterology, Hepatolog; Pan Arab Society for Pediatric Gastroenterology and Nutrition (P; Asian Pan‐Pacific Society for Pediatric Gastroenterology, Hepato; North American Society for Pediatric Gastroenterology, Hepatolog; World Allergy Organization (WAO); Asia Pacific Academy of Pediatric Allergy, Respirology & Immunol; - view fewer (2024) Response to: Grummer-Strawn LM, Lutter CK, Siegfried N, et al. Response to: World Health Organization (WHO) guideline on the complementary feeding of infants and young children aged 6-23 months 2023: A multisociety response. JPGN 2024. Journal of Pediatric Gastroenterology and Nutrition , 79 (5) pp. 1087-1089. 10.1002/jpn3.12362.

Filippi, R; Ceccolini, A; Periche-Tomas, E; Papageorgiou, A; Bright, P; (2020) Developmental trajectories of control of verbal and non-verbal interference in speech comprehension in monolingual and multilingual children. Cognition , 200 , Article 104252. 10.1016/j.cognition.2020.104252.

Filippi, R; Periche Tomas, E; Papageorgiou, A; Bright, P; (2020) A role for the cerebellum in the control of verbal interference: Comparison of bilingual and monolingual adults. PLOS ONE , 15 (4) , Article e0231288. 10.1371/journal.pone.0231288.

Finkel, RS; Mercuri, E; Darras, BT; Connolly, AM; Kuntz, NL; Kirschner, J; Chiriboga, CA; ... De Vivo, DC; + view all Finkel, RS; Mercuri, E; Darras, BT; Connolly, AM; Kuntz, NL; Kirschner, J; Chiriboga, CA; Saito, K; Servais, L; Tizzano, E; Topaloglu, H; Tulinius, M; Montes, J; Glanzman, AM; Bishop, K; Zhong, ZJ; Gheuens, S; Bennett, CF; Schneider, E; Farwell, W; De Vivo, DC; - view fewer (2017) Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. New England Journal of Medicine , 377 (18) pp. 1723-1732. 10.1056/NEJMoa1702752.

Finkel, RS; Mercuri, E; Meyer, OH; Simonds, AK; Schroth, MK; Graham, RJ; Kirschner, J; ... Sejersen, T; + view all Finkel, RS; Mercuri, E; Meyer, OH; Simonds, AK; Schroth, MK; Graham, RJ; Kirschner, J; Iannaccone, ST; Crawford, TO; Woods, S; Muntoni, F; Wirth, B; Montes, J; Main, M; Mazzone, ES; Vitale, M; Snyder, B; Quijano-Roy, S; Bertini, E; Davis, RH; Qian, Y; Sejersen, T; - view fewer (2018) Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders , 28 (3) pp. 197-207. 10.1016/j.nmd.2017.11.004.

Finlayson, NJ; Papageorgiou, A; Schwarzkopf, DS; (2017) A new method for mapping perceptual biases across visual space. Journal of Vision , 17 (9) , Article 5. 10.1167/17.9.5.

Fisher, RS; Cross, JH; D Souza, C; French, JA; Haut, SR; Higurashi, N; Hirsch, E; ... Zuberi, SM; + view all Fisher, RS; Cross, JH; D Souza, C; French, JA; Haut, SR; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; Moshé, SL; Peltola, J; Roulet Perez, E; Scheffer, IE; Schulze-Bonhage, A; Somerville, E; Sperling, M; Yacubian, EM; Zuberi, SM; - view fewer (2018) Anleitung („instruction manual“) zur Anwendung der operationalen Klassifikation von Anfallsformen der ILAE 2017 // Instruction manual for the ILAE 2017 operational classification of seizure types. Zeitschrift fur Epileptologie , 31 (4) pp. 282-295. 10.1007/s10309-018-0217-7.

Fisher, RS; Cross, JH; D'Souza, C; French, JA; Haut, SR; Higurashi, N; Hirsch, E; ... Zuberi, SM; + view all Fisher, RS; Cross, JH; D'Souza, C; French, JA; Haut, SR; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; Moshe, SL; Peltola, J; Perez, ER; Scheffer, IE; Schulze-Bonhage, A; Somerville, E; Sperling, M; Yacubian, EM; Zuberi, SM; - view fewer (2017) Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia , 58 (4) pp. 531-542. 10.1111/epi.13671.

Fisher, RS; Cross, JH; French, JA; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; ... Zuberi, SM; + view all Fisher, RS; Cross, JH; French, JA; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; Moshé, SL; Peltola, J; Roulet Perez, E; Scheffer, IE; Zuberi, SM; - view fewer (2018) Operationale Klassifikation der Anfallsformen durch die Internationale Liga gegen Epilepsie: Positionspapier der ILAE-Klassifikations- und Terminologiekommission // Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Zeitschrift fur Epileptologie , 31 (4) pp. 272-281. 10.1007/s10309-018-0216-8.

Fisher, RS; Cross, JH; French, JA; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; ... Zuberi, SM; + view all Fisher, RS; Cross, JH; French, JA; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; Moshe, SL; Peltola, J; Roulet Perez, E; Scheffer, IE; Zuberi, SM; - view fewer (2017) Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. Epilepsia , 58 (4) pp. 522-530. 10.1111/epi.13670.

Fleming, JE; Benjaber, M; Toth, R; Zamora, M; Landin, K; Kavoosi, A; Ottoway, J; ... Denison, T; + view all Fleming, JE; Benjaber, M; Toth, R; Zamora, M; Landin, K; Kavoosi, A; Ottoway, J; Gillbe, T; Piper, RJ; Noone, T; Campbell, H; Gillbe, I; Kaliakatsos, M; Tisdall, M; Valentin, A; Denison, T; - view fewer (2023) An embedded intracranial seizure monitor for objective outcome measurements and rhythm identification. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference , 2023 pp. 1-6. 10.1109/EMBC40787.2023.10340850. (In press).

Flower, M; Lomeikaite, V; Ciosi, M; Cumming, S; Morales, F; Lo, K; Hensman Moss, D; ... Tabrizi, SJ; + view all Flower, M; Lomeikaite, V; Ciosi, M; Cumming, S; Morales, F; Lo, K; Hensman Moss, D; Jones, L; Holmans, P; TRACK-HD Investigators; OPTIMISTIC Consortium; Monckton, DG; Tabrizi, SJ; - view fewer (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain , 142 (7) pp. 1876-1886. 10.1093/brain/awz115.

Foley, A Reghan; Bolduc, Véronique; Guirguis, Fady; Donkervoort, Sandra; Hu, Ying; Orbach, Rotem; McCarty, Riley M; ... Bönnemann, Carsten G; + view all Foley, A Reghan; Bolduc, Véronique; Guirguis, Fady; Donkervoort, Sandra; Hu, Ying; Orbach, Rotem; McCarty, Riley M; Sarathy, Apurva; Norato, Gina; Cummings, Beryl B; Lek, Monkol; Sarkozy, Anna; Butterfield, Russell J; Kirschner, Janbernd; Nascimento, Andrés; Natera-de Benito, Daniel; Quijano-Roy, Susana; Stojkovic, Tanya; Merlini, Luciano; Comi, Giacomo; Ryan, Monique; McDonald, Denise; Munot, Pinki; Yoon, Grace; Leung, Edward; Finanger, Erika; Leach, Meganne E; Collins, James; Tian, Cuixia; Mohassel, Payam; Neuhaus, Sarah B; Saade, Dimah; Cocanougher, Benjamin T; Chu, Mary-Lynn; Scavina, Mena; Grosmann, Carla; Richardson, Randal; Kossak, Brian D; Gospe, Sidney M; Bhise, Vikram; Taurina, Gita; Lace, Baiba; Troncoso, Monica; Shohat, Mordechai; Shalata, Adel; Chan, Sophelia HS; Jokela, Manu; Palmio, Johanna; Haliloğlu, Göknur; Jou, Cristina; Gartioux, Corine; Solomon-Degefa, Herimela; Freiburg, Carolin D; Schiavinato, Alvise; Zhou, Haiyan; Aguti, Sara; Nevo, Yoram; Nishino, Ichizo; Jimenez-Mallebrera, Cecilia; Lamandé, Shireen R; Allamand, Valérie; Gualandi, Francesca; Ferlini, Alessandra; MacArthur, Daniel G; Wilton, Steve D; Wagener, Raimund; Bertini, Enrico; Muntoni, Francesco; Bönnemann, Carsten G; - view fewer (2025) Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Brain 10.1093/brain/awaf116. (In press).

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; ... Houlden, H; + view all Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; Yonezawa, A; Manzur, AY; Burns, J; Hughes, I; McCullagh, BG; Jungbluth, H; Lim, MJ; Lin, JP; Megarbane, A; Urtizberea, JA; Shah, AH; Antony, J; Webster, R; Broomfield, A; Ng, J; Mathew, AA; O'Byrne, JJ; Forman, E; Scoto, M; Prasad, M; O'Brien, K; Olpin, S; Oppenheim, M; Hargreaves, I; Land, JM; Wang, MX; Carpenter, K; Horvath, R; Straub, V; Lek, M; Gold, W; Farrell, MO; Brandner, S; Phadke, R; Matsubara, K; McGarvey, ML; Scherer, SS; Baxter, PS; King, MD; Clayton, P; Rahman, S; Reilly, MM; Ouvrier, RA; Christodoulou, J; Züchner, S; Muntoni, F; Houlden, H; - view fewer (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315.

Foley, AR; Pitceathly, RD; He, J; Kim, J; Pearson, NM; Muntoni, F; Hanna, MG; (2014) Whole-genome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2013-306264.

Foley, AR; Zou, Y; Dunford, JE; Rooney, J; Chandra, G; Xiong, H; Straub, V; ... Bonnemann, CG; + view all Foley, AR; Zou, Y; Dunford, JE; Rooney, J; Chandra, G; Xiong, H; Straub, V; Voit, T; Romero, N; Donkervoort, S; Hu, Y; Markello, T; Horn, A; Qebibo, L; Dastgir, J; Meilleur, KG; Finkel, RS; Fan, Y; Mamchaoui, K; Duguez, S; Nelson, I; Laporte, J; Santi, M; Malfatti, E; Maisonobe, T; Touraine, P; Hirano, M; Hughes, I; Bushby, K; Oppermann, U; Bohm, J; Jaiswal, JK; Stojkovic, T; Bonnemann, CG; - view fewer (2020) GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Annals of Neurology 10.1002/ana.25772. (In press).

Foley, E; Cross, JH; Thai, NJ; Walsh, AR; Bill, P; Furlong, P; Wood, AG; ... Seri, S; + view all Foley, E; Cross, JH; Thai, NJ; Walsh, AR; Bill, P; Furlong, P; Wood, AG; Cerquiglini, A; Seri, S; - view fewer (2019) MEG Assessment of Expressive Language in Children Evaluated for Epilepsy Surgery. Brain Topography 10.1007/s10548-019-00703-1. (In press).

Foppiani, A; De Amicis, R; Leone, A; Ravella, S; Bedogni, G; Battezzati, A; D'Amico, A; ... Bertoli, S; + view all Foppiani, A; De Amicis, R; Leone, A; Ravella, S; Bedogni, G; Battezzati, A; D'Amico, A; Bertini, E; Pedemonte, M; Bruno, C; Agosto, C; Mastella, C; Giaquinto, E; Masson, R; Baranello, G; Bertoli, S; - view fewer (2021) Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation. Clinical Nutrition , 40 (4) pp. 1578-1587. 10.1016/j.clnu.2021.02.026.

Fortunato, F; Rossi, R; Falzarano, MS; Ferlini, A; (2021) Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. Journal of Clinical Medicine , 10 (4) , Article 820. 10.3390/jcm10040820.

Fosi, T; Lax-Pericall, MT; Scott, RC; Neville, BG; Aylett, SE; (2013) Methylphenidate treatment of attention deficit hyperactivity disorder in young people with learning disability and difficult-to-treat epilepsy: Evidence of clinical benefit. Epilepsia , 54 (12) pp. 2071-2081. 10.1111/epi.12399.

Fosi, T; Werner, K; Boyd, SG; De Haan, M; Scott, RC; Neville, BG; (2017) Auditory processing following infantile spasms: An event-related potential study. Epilepsia , 58 (5) pp. 872-881. 10.1111/epi.13725.

Frank, DE; Schnell, FJ; Akana, C; El-Husayni, SH; Desjardins, CA; Morgan, J; Charleston, JS; ... SKIP-NMD Study Group; + view all Frank, DE; Schnell, FJ; Akana, C; El-Husayni, SH; Desjardins, CA; Morgan, J; Charleston, JS; Sardone, V; Domingos, J; Dickson, G; Straub, V; Guglieri, M; Mercuri, E; Servais, L; Muntoni, F; SKIP-NMD Study Group; - view fewer (2020) Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology 10.1212/WNL.0000000000009233. (In press).

Frauenfelder, Claire; Shelmerdine, Susan C; Simcock, Ian C; Hall, Andrew; Hutchinson, John Ciaran; Ashworth, Michael T; Arthurs, Owen J; Frauenfelder, Claire; Shelmerdine, Susan C; Simcock, Ian C; Hall, Andrew; Hutchinson, John Ciaran; Ashworth, Michael T; Arthurs, Owen J; Butler, Colin R; - view fewer (2021) Micro-CT Imaging of Pediatric Thyroglossal Duct Cysts: A Prospective Case Series. Frontiers in Pediatrics , 9 , Article 746010. 10.3389/fped.2021.746010.

Freiburg, Carolin D; Solomon-Degefa, Herimela; Freiburg, Patrick; Mörgelin, Matthias; Bolduc, Véronique; Schmitz, Sebastian; Ala, Pierpaolo; ... Wagener, Raimund; + view all Freiburg, Carolin D; Solomon-Degefa, Herimela; Freiburg, Patrick; Mörgelin, Matthias; Bolduc, Véronique; Schmitz, Sebastian; Ala, Pierpaolo; Muntoni, Francesco; Behrmann, Elmar; Bönnemann, Carsten G; Schiavinato, Alvise; Paulsson, Mats; Wagener, Raimund; - view fewer (2023) The UCMD-Causing COL6A1 (c:930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains. Human Mutation , 2023 , Article 6892763. 10.1155/2023/6892763.

French, JA; Brodie, MJ; Caraballo, R; Devinsky, O; Ding, D; Jehi, L; Jette, N; ... Cross, JH; + view all French, JA; Brodie, MJ; Caraballo, R; Devinsky, O; Ding, D; Jehi, L; Jette, N; Kanner, A; Modi, AC; Newton, CR; Patel, AA; Pennell, PB; Perucca, E; Sander, JW; Scheffer, IE; Singh, G; Williams, E; Wilmshurst, J; Cross, JH; - view fewer (2020) Keeping people with epilepsy safe during the Covid-19 pandemic. Neurology , 94 (23) pp. 1032-1037. 10.1212/WNL.0000000000009632.

Fridman, V; Bundy, B; Reilly, MM; Pareyson, D; Bacon, C; Burns, J; Day, J; ... Shy, ME; + view all Fridman, V; Bundy, B; Reilly, MM; Pareyson, D; Bacon, C; Burns, J; Day, J; Feely, S; Finkel, RS; Grider, T; Kirk, CA; Herrmann, DN; Laurá, M; Li, J; Lloyd, T; Sumner, CJ; Muntoni, F; Piscosquito, G; Ramchandren, S; Shy, R; Siskind, CE; Yum, SW; Moroni, I; Pagliano, E; Zuchner, S; Scherer, SS; Shy, ME; - view fewer (2015) CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Journal of Neurology, Neurosurgery & Psychiatry , 86 (8) pp. 873-878. 10.1136/jnnp-2014-308826.

Fridman, V; Sillau, S; Acsadi, G; Bacon, C; Dooley, K; Burns, J; Day, J; ... Shy, ME; + view all Fridman, V; Sillau, S; Acsadi, G; Bacon, C; Dooley, K; Burns, J; Day, J; Feely, S; Finkel, RS; Grider, T; Gutmann, L; Herrmann, DN; Kirk, CA; Knause, SA; Laura, M; Lewis, RA; Li, J; Lloyd, TE; Moroni, I; Muntoni, F; Pagliano, E; Pisciotta, C; Piscosquito, G; Ramchandren, S; Saporta, M; Sadjadi, R; Shy, RR; Siskind, CE; Sumner, CJ; Walk, D; Wilcox, J; Yum, SW; Zuchner, S; Scherer, SS; Pareyson, D; Reilly, MM; Shy, ME; - view fewer (2020) A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology , 94 (9) E884-E896. 10.1212/WNL.0000000000009035.

Friedman, J; Lucas-Del-Pozo, S; Moreno-Martinez, D; Camprodon-Gomez, M; Moreno-Martinez, D; Hernandez-Vara, J; Kurian, MA; (2021) Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life. Movement Disorders Clinical Practice , 8 (S1) S40-S41. 10.1002/mdc3.13304.

Fuchs, A; Disma, N; Engelhardt, T; Marchesini, V; Riedel, T; Boda, K; Habre, W; ... Magne, C; + view all Fuchs, A; Disma, N; Engelhardt, T; Marchesini, V; Riedel, T; Boda, K; Habre, W; Riva, T; Veyckemans, F; Virag, K; Hansen, TG; Becke-Jakob, K; Harlet, P; Vutskits, L; Walker, SM; de Graaff, JC; Zielinska, M; Simic, D; Breschan, C; Likar, R; Platzer, M; Edelman, I; Eger, J; Heschl, S; Messerer, B; Vittinghof, M; Kroess, R; Stichlberger, M; Kahn, D; Pirotte, T; Pregardien, C; Stevens, F; Berghmans, J; Bauters, A; De Baerdemaeker, L; De Hert, S; Lapage, K; Parashchanka, A; Van Limmen, J; Wyffels, P; Lauweryns, J; Najafi, N; Vundelinckx, J; Butković, D; Sorić, IK; Kralik, S; Markić, A; Azman, J; Markic, J; Pupacic, D; Frelich, M; Reimer, P; Urbanec, R; Cajková, P; Mixa, V; Sedláčková, Y; Knoppová, L; Zlámalová (neé Květoňová), A; Vavřina, M; Žurek, J; Afshari, A; Bille, AB; Ellekvist, M; Ilmoja, ML; Moor, R; Kikas, R; Väli, M; Kallio, K; Reponen, E; Suominen, P; Suvanto, S; Vähätalo, R; Kokki, H; Kokki, M; Harju, J; Kokkonen, M; Vieri, J; Manner, T; Amory, C; Ludot, H; Bert, D; Godart, J; Laffargue, A; Dupont, H; Urbina, B; Baujard, C; Roulleau, P; Staiti, G; Bordes, M; Gaulain, KN; Hamonic, Y; Semjen, F; Jacqmarcq, O; Lejus-Bourdeau, C; Magne, C; - view fewer (2025) Ventilation strategies and risk factors for intraoperative respiratory critical events and postoperative pulmonary complications in neonates and small infants: a secondary analysis of the NECTARINE cohort. British Journal of Anaesthesia 10.1016/j.bja.2024.12.038. (In press).

Fuchs, Alexander; Disma, Nicola; Virág, Katalin; Ulmer, Francis; Habre, Walid; de Graaff, Jurgen C; Riva, Thomas; Fuchs, Alexander; Disma, Nicola; Virág, Katalin; Ulmer, Francis; Habre, Walid; de Graaff, Jurgen C; Riva, Thomas; NECTARINE Group of the European Society of Anaesthesiology and I; - view fewer (2022) Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe: A prospective European multicentre observational study. European Journal of Anaesthesiology , 39 (3) pp. 252-260. 10.1097/EJA.0000000000001646.

Fullerton, HJ; Ganesan, V; Jordan, LC; Kirton, A; Mackay, MT; Steinlin, M; (2019) Building a Career as a Pediatric Stroke Neurologist. Stroke , 50 (10) e287-e289. 10.1161/STROKEAHA.119.026187.

G

Gagunashvili, AN; Ocaka, L; Kelberman, D; Munot, P; Bacchelli, C; Beales, PL; Ganesan, V; (2019) Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Human Genome Variation , 6 , Article 35. 10.1038/s41439-019-0066-6.

Gaillard, WD; Jette, N; Arnold, ST; Arzimanoglou, A; Braun, KPJ; Cukiert, A; Dick, A; ... Jayakar, P; + view all Gaillard, WD; Jette, N; Arnold, ST; Arzimanoglou, A; Braun, KPJ; Cukiert, A; Dick, A; Harvey, AS; Jacobs, J; Rydenhag, B; Udani, V; Wilmshurst, JM; Cross, JH; Jayakar, P; - view fewer (2020) Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force. Epilepsia , 61 (12) pp. 2629-2642. 10.1111/epi.16698.

Gaillard, M-C; Puppo, F; Roche, S; Dion, C; Campana, ES; Mariot, V; Chaix, C; ... Bartoli, M; + view all Gaillard, M-C; Puppo, F; Roche, S; Dion, C; Campana, ES; Mariot, V; Chaix, C; Vovan, C; Mazaleyrat, K; Tasmadjian, A; Bernard, R; Dumonceaux, J; Attarian, S; Lévy, N; Nguyen, K; Magdinier, F; Bartoli, M; - view fewer (2016) Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. BMC Medical Genetics , 17 (1) , Article 66. 10.1186/s12881-016-0328-9.

Galadanci, NA; Abdullahi, SU; Abubakar, SA; Wudil, BJ; Aminu, H; Tijjani, A; Abba, MS; ... DeBaun, MR; + view all Galadanci, NA; Abdullahi, SU; Abubakar, SA; Wudil, BJ; Aminu, H; Tijjani, A; Abba, MS; Tabari, MA; Galadanci, A; Borodo, A; Belonwu, R; Salihu, AS; Rodeghier, M; Ghafuri, DL; Covert Greene, BV; Neville, K; Kassim, AA; Kirkham, F; Jordan, LC; Aliyu, MH; DeBaun, MR; - view fewer (2020) Moderate-Dose Hydroxyurea for Primary Prevention of Strokes in Nigerian Children with Sickle Cell Disease: Final Results of the SPIN Trial. American Journal of Hematology , 95 (9) E247-E250. 10.1002/ajh.25900.

Galadanci, NA; Abdullahi, SU; Vance, LD; Tabari, AM; Ali, S; Belonwu, R; Salihu, A; ... DeBaun, MR; + view all Galadanci, NA; Abdullahi, SU; Vance, LD; Tabari, AM; Ali, S; Belonwu, R; Salihu, A; Galadanci, AA; Jibir, BW; Bello-Manga, H; Neville, K; Kirkham, FJ; Shyr, Y; Phillips, S; Covert, BV; Kassim, AA; Jordan, LC; Aliyu, MH; DeBaun, MR; - view fewer (2017) Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial). American Journal of Hematology , 92 (8) pp. 780-788. 10.1002/ajh.24770.

Galadanci, NA; Abdullahi, SU; Vance, LD; Tabari, MA; Abubakar, S; Belonwu, R; Salihu, A; ... DeBaun, MR; + view all Galadanci, NA; Abdullahi, SU; Vance, LD; Tabari, MA; Abubakar, S; Belonwu, R; Salihu, A; Galadanci, AA; Jibir, BW; Gambo, S; Suwaid, S; Bello-Manga, H; Neville, K; Kirkham, F; Shyr, Y; Phillips, S; Covert, BV; Kassim, AA; Trevathan, E; Jordan, LC; Aliyu, MH; DeBaun, MR; - view fewer (2017) Implementing a standard-of-care clinic for stroke prevention in children with sickle cell disease in Nigeria: a feasible strategy outside a clinical trial setting. Blood Advances , 1 pp. 23-25. 10.1182/bloodadvances.2017GS101266.

Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; ... Spoudeas, Helen Alexandra; + view all Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; Farndon, Sarah; Jacques, Thomas S; Korbonits, Márta; Kuczynski, Adam; Limond, Jennifer; Robinson, Louise; Simmons, Ian; Thomas, Nick; Thomas, Sophie; Thorp, Nicola; Vargha-Khadem, Faraneh; Warren, Daniel; Zebian, Bassel; Mallucci, Conor; Spoudeas, Helen Alexandra; - view fewer (2023) National UK guidelines for the management of paediatric craniopharyngioma. The Lancet Diabetes & Endocrinology , 11 (9) pp. 694-706. 10.1016/S2213-8587(23)00162-6.

Ganassi, M; Muntoni, F; Zammit, PS; (2021) Defining and Identifying Satellite Cell-opathies within Muscular Dystrophies and Myopathies. Experimental Cell Research , Article 112906. 10.1016/j.yexcr.2021.112906. (In press).

Garavaglia, L; Pagliano, E; Baranello, G; Pittaccio, S; (2018) Why orthotic devices could be of help in the management of Movement Disorders in the young. Journal of NeuroEngineering and Rehabilitation , 15 , Article 118. 10.1186/s12984-018-0466-8.

Gardiner, AR; Jaffer, F; Dale, RC; Labrum, R; Erro, R; Meyer, E; Xiromerisiou, G; ... Houlden, H; + view all Gardiner, AR; Jaffer, F; Dale, RC; Labrum, R; Erro, R; Meyer, E; Xiromerisiou, G; Stamelou, M; Walker, M; Kullmann, D; Warner, T; Jarman, P; Hanna, M; Kurian, MA; Bhatia, KP; Houlden, H; - view fewer (2015) The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain , 138 (Pt 12) pp. 3567-3580. 10.1093/brain/awv310.

Garralda, ME; McConachie, H; Le Couteur, A; Sriranjan, S; Chakrabarti, I; Cirak, S; Guglieri, M; ... Muntoni, F; + view all Garralda, ME; McConachie, H; Le Couteur, A; Sriranjan, S; Chakrabarti, I; Cirak, S; Guglieri, M; Bushby, K; Muntoni, F; - view fewer (2013) Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev , 39 (3) 449 - 455. 10.1111/j.1365-2214.2012.01387.x.

Gavlak, JC; Stocks, J; Laverty, A; Fettes, E; Bucks, R; Sonnappa, S; Cooper, J; ... Kirkham, FJ; + view all Gavlak, JC; Stocks, J; Laverty, A; Fettes, E; Bucks, R; Sonnappa, S; Cooper, J; Grocott, MP; Levett, DZ; Martin, DS; Imray, CH; Kirkham, FJ; - view fewer (2013) The Young Everest Study: preliminary report of changes in sleep and cerebral blood flow velocity during slow ascent to altitude in unacclimatised children. Archives of Disease in Childhood , 98 (5) 356 -362. 10.1136/archdischild-2012-302512.

Gerli, MFM; Moyle, LA; Benedetti, S; Ferrari, G; Ucuncu, E; Ragazzi, M; Constantinou, C; ... Tedesco, FS; + view all Gerli, MFM; Moyle, LA; Benedetti, S; Ferrari, G; Ucuncu, E; Ragazzi, M; Constantinou, C; Louca, I; Sakai, H; Ala, P; De Coppi, P; Tajbakhsh, S; Cossu, G; Tedesco, FS; - view fewer (2019) Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells. Stem Cell Reports , 12 (3) pp. 461-473. 10.1016/j.stemcr.2019.01.007.

Gerstl, L; Badura, K; Heinen, F; Weinberger, R; Peraud, A; Dorn, F; Bonfert, MV; ... O'Callaghan, FJ; + view all Gerstl, L; Badura, K; Heinen, F; Weinberger, R; Peraud, A; Dorn, F; Bonfert, MV; Berweck, S; O'Callaghan, FJ; - view fewer (2019) Childhood haemorrhagic stroke: a 7-year single-centre experience. Archives of Disease in Childhood , 104 (12) pp. 1198-1202. 10.1136/archdischild-2018-316749.

Geva, Sharon; Hoskote, Aparna; Saini, Maneet; Clark, Christopher A; Banks, Tina; Chong, WK Kling; Baldeweg, Torsten; ... Vargha-Khadem, Faraneh; + view all Geva, Sharon; Hoskote, Aparna; Saini, Maneet; Clark, Christopher A; Banks, Tina; Chong, WK Kling; Baldeweg, Torsten; de Haan, Michelle; Vargha-Khadem, Faraneh; - view fewer (2024) Cognitive outcome and its neural correlates after cardiorespiratory arrest in childhood. Developmental Science , 27 (4) , Article e13501. 10.1111/desc.13501.

Geva, S; Cooper, JM; Gadian, DG; Mishkin, M; Vargha-Khadem, F; (2016) Impairment on a self-ordered working memory task in patients with early-acquired hippocampal atrophy. Developmental Cognitive Neuroscience , 20 pp. 12-22. 10.1016/j.dcn.2016.06.001.

Geva, S; Jentschke, S; Argyropoulos, GPD; Chong, WK; Gadian, DG; Vargha-Khadem, F; (2020) Volume reduction of caudate nucleus is associated with movement coordination deficits in patients with hippocampal atrophy due to perinatal hypoxia-ischaemia. NeuroImage: Clinical , 28 , Article 102429. 10.1016/j.nicl.2020.102429.

Ghafuri, DL; Greene, BC; Musa, B; Gambo, A; Sani, A; Abdullahi, S; Wudil, BJ; ... Jordan, LC; + view all Ghafuri, DL; Greene, BC; Musa, B; Gambo, A; Sani, A; Abdullahi, S; Wudil, BJ; Bello-Manga, H; Gambo, S; Ghafuri, M; Cassell, H; Neville, K; Kirkham, F; Kassim, AA; Aliyu, MH; DeBaun, MR; Jordan, LC; - view fewer (2021) Capacity Building for Primary Stroke Prevention Teams in Children Living With Sickle Cell Anemia in Africa. Pediatric Neurology , 125 pp. 9-15. 10.1016/j.pediatrneurol.2021.08.010.

Ghelani, R; Lim, C; Brain, C; Fewtrell, M; Butler, G; (2020) Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria. Journal of Pediatric Endocrinology and Metabolism , 33 (1) pp. 107-112. 10.1515/jpem-2019-0045.

Gibbard, CR; (2016) Structural connectivity of the brain in autism spectrum disorder. Doctoral thesis , UCL (University College London).

Gibbard, CR; Ren, J; Skuse, DH; Clayden, JD; Clark, CA; (2018) Structural connectivity of the amygdala in young adults with autism spectrum disorder. Human Brain Mapping , 39 (3) pp. 1270-1282. 10.1002/hbm.23915.

Gibbard, CR; Seunarine, KK; Clayden, JD; Clark, CA; Ren, J; Skuse, DH; (2013) White matter microstructure correlates with autism trait severity in a combined clinical-control sample of high-functioning adults. NeuroImage: Clinical , 3 106 - 114. 10.1016/j.nicl.2013.07.007.

Gifford, Alison; Griffiths, Michael J; Rodie, Philippa; Wilmshurst, Jo; Ball, Jessica; Dunkley, Colin; McLellan, Ailsa; ... Kirkpatrick, Martin; + view all Gifford, Alison; Griffiths, Michael J; Rodie, Philippa; Wilmshurst, Jo; Ball, Jessica; Dunkley, Colin; McLellan, Ailsa; O'Callaghan, Finbar; Kirkpatrick, Martin; - view fewer (2024) Reducing epilepsy diagnostic and treatment gaps: Standardized paediatric epilepsy training courses for health. Developmental Medicine & Child Neurology 10.1111/dmcn.15864. (In press).

Gileadi, TE; Swamy, AK; Hore, Z; Horswell, S; Ellegood, J; Mohan, C; Mizuno, K; ... Basson, MA; + view all Gileadi, TE; Swamy, AK; Hore, Z; Horswell, S; Ellegood, J; Mohan, C; Mizuno, K; Lundebye, A-K; Giese, KP; Stockinger, B; Hogstrand, C; Lerch, JP; Fernandes, C; Basson, MA; - view fewer (2021) Effects of Low-Dose Gestational TCDD Exposure on Behavior and on Hippocampal Neuron Morphology and Gene Expression in Mice. Environmental Health Perspectives , 129 (5) , Article 057002. 10.1289/EHP7352.

Gill, SK; Rose, HEL; Wilson, M; Rodriguez Gutierrez, D; Worthington, L; Davies, NP; MacPherson, L; ... Peet, AC; + view all Gill, SK; Rose, HEL; Wilson, M; Rodriguez Gutierrez, D; Worthington, L; Davies, NP; MacPherson, L; Hargrave, DR; Saunders, DE; Clark, CA; Payne, GS; Leach, MO; Howe, FA; Auer, DP; Jaspan, T; Morgan, PS; Grundy, RG; Avula, S; Pizer, B; Arvanitis, TN; Peet, AC; - view fewer (2024) Characterisation of paediatric brain tumours by their MRS metabolite profiles. NMR in Biomedicine 10.1002/nbm.5101. (In press).

Glennon, JM; Weiss-Croft, L; Harrison, S; Cross, JH; Boyd, SG; Baldeweg, T; (2016) Interictal epileptiform discharges have an independent association with cognitive impairment in children with lesional epilepsy. Epilepsia , 57 (9) pp. 1436-1442. 10.1111/epi.13479.

Goeggel Simonetti, B; Rafay, MF; Chung, M; Lo, WD; Beslow, LA; Billinghurst, LL; Fox, CK; ... IPSS Study Group; + view all Goeggel Simonetti, B; Rafay, MF; Chung, M; Lo, WD; Beslow, LA; Billinghurst, LL; Fox, CK; Pagnamenta, A; Steinlin, M; Mackay, MT; IPSS Study Group; - view fewer (2020) Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke Study. Neurology , 94 (4) e337-e344. 10.1212/WNL.0000000000008837.

Goergen, SK; Alibrahim, E; Govender, N; Stanislavsky, A; Abel, C; Prystupa, S; Collett, J; ... Arthurs, OJ; + view all Goergen, SK; Alibrahim, E; Govender, N; Stanislavsky, A; Abel, C; Prystupa, S; Collett, J; Shelmerdine, SC; Arthurs, OJ; - view fewer (2019) Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI. Neuroradiology 10.1007/s00234-019-02218-9. (In press).

Gogou, Maria; Pujar, Suresh; Nemani, Tarishi; Chiang, Chunyi; Simpson, Zoe; Hardy, Isobel; Schoeler, Natasha; ... Eltze, Christin; + view all Gogou, Maria; Pujar, Suresh; Nemani, Tarishi; Chiang, Chunyi; Simpson, Zoe; Hardy, Isobel; Schoeler, Natasha; Cross, J Helen; Eltze, Christin; - view fewer (2023) Antiseizure medication reduction and withdrawal in children with drug-resistant epilepsy after starting the ketogenic diet. Developmental Medicine & Child Neurology , 65 (3) pp. 424-430. 10.1111/dmcn.15377.

Gogou, M; Cross, JH; (2021) Fenfluramine as antiseizure medication for epilepsy. Developmental Medicine & Child Neurology 10.1111/dmcn.14822. (In press).

Goh, V; National Institute for Health Research Clinical Research Network, .; Royal College of Radiologists' Academic Committee, .; (2019) The National Institute for Health Research: making an impact in imaging research. Clinical Radiology , 74 (3) pp. 242-246. 10.1016/j.crad.2018.11.012.

Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; ... Lesca, Gaetan; + view all Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A; Labalme, Audrey; Cuddapah, Vishnu A; Ruggiero, Sarah M; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O; Helbig, Katherine L; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S; Rosenfeld, Jill A; Au, Margaret; Grand, Katheryn; Graham, John; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E; Koop, Klaas; Rudolf, Gabrielle; Küry, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan; - view fewer (2024) Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology , 102 (2) , Article e207945. 10.1212/WNL.0000000000207945.

Goksan, S; Argyri, F; Clayden, JD; Liegeois, F; Wei, L; (2020) Early childhood bilingualism: effects on brain structure and function [version 2; peer review: 2 approved]. F1000Research , 9 , Article 370. 10.12688/f1000research.23216.2.

Goksan, S; Argyri, F; Clayden, JD; Liegeois, F; Wei, L; (2020) Early childhood bilingualism: effects on brain structure and function [version 1; peer review: 2 approved]. F1000Research , 9 , Article 370. 10.12688/f1000research.23216.1.

Gonzalez-Viana, Eva; Sen, Arjune; Bonnon, Alexandra; Cross, J Helen; Guideline Committee; (2022) Epilepsies in children, young people, and adults: summary of updated NICE guidance. BMJ , 378 , Article o1446. 10.1136/bmj.o1446.

Goodman, LD; Cope, H; Nil, Z; Ravenscroft, TA; Charng, WL; Lu, S; Tien, AC; ... Tan, QKG; + view all Goodman, LD; Cope, H; Nil, Z; Ravenscroft, TA; Charng, WL; Lu, S; Tien, AC; Pfundt, R; Koolen, DA; Haaxma, CA; Veenstra-Knol, HE; Wassink-Ruiter, JSK; Wevers, MR; Jones, M; Walsh, LE; Klee, VH; Theunis, M; Legius, E; Steel, D; Barwick, KES; Kurian, MA; Mohammad, SS; Dale, RC; Terhal, PA; van Binsbergen, E; Kirmse, B; Robinette, B; Cogné, B; Isidor, B; Grebe, TA; Kulch, P; Hainline, BE; Sapp, K; Morava, E; Klee, EW; Macke, EL; Trapane, P; Spencer, C; Si, Y; Begtrup, A; Moulton, MJ; Dutta, D; Kanca, O; Wangler, MF; Yamamoto, S; Bellen, HJ; Tan, QKG; - view fewer (2021) TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics , 108 (9) pp. 1669-1691. 10.1016/j.ajhg.2021.06.019.

Gopalan, V; Rennie, A; Robertson, F; Kanagarajah, L; Toolis, C; Bhate, S; Ganesan, V; (2018) Presentation, course, and outcome of postneonatal presentations of vein of Galen malformation: a large, single-institution case series. Developmental Medicine & Child Neurology , 60 (4) pp. 424-429. 10.1111/dmcn.13676.

Gordon, AL; Nguyen, L; Panton, A; Mallick, AA; Ganesan, V; Wraige, E; McKevitt, C; (2018) Self-reported needs after pediatric stroke. European Journal of Paediatric Neurology , 22 (5) pp. 791-796. 10.1016/j.ejpn.2018.06.003.

Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL; Pressler, RM; Simpson, MA; Debelle, GD; Wassmer, E; Morton, J; Sieciechowicz, D; Jan-Kamsteeg, E; Paciorkowski, AR; King, MD; Cross, JH; Poduri, A; Mefford, HC; Scheffer, IE; Haack, TB; McCullagh, G; Millichap, JJ; Carvill, GL; Clayton-Smith, J; Maher, ER; Raymond, FL; Kurian, MA; - view fewer (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005.

Gorman, KM; Meyer, E; Kurian, MA; (2018) Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. [Review]. European Journal of Paediatric Neurology , 22 (2) pp. 245-256. 10.1016/j.ejpn.2017.11.009.

Gowda, V; Atherton, M; Murugan, A; Servais, L; Sheehan, J; Standing, E; Manzur, A; ... Wraige, E; + view all Gowda, V; Atherton, M; Murugan, A; Servais, L; Sheehan, J; Standing, E; Manzur, A; Scoto, M; Baranello, G; Munot, P; McCullagh, G; Willis, T; Tirupathi, S; Horrocks, I; Dhawan, A; Eyre, M; Vanegas, M; Fernandez-Garcia, MA; Wolfe, A; Pinches, L; Illingworth, M; Main, M; Abbott, L; Smith, H; Milton, E; D'Urso, S; Vijayakumar, K; Marco, SS; Warner, S; Reading, E; Douglas, I; Muntoni, F; Ong, M; Majumdar, A; Hughes, I; Jungbluth, H; Wraige, E; - view fewer (2024) Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom. The Lancet Regional Health - Europe , 37 , Article 100817. 10.1016/j.lanepe.2023.100817.

Graham, RJ; Muntoni, F; Hughes, I; Yum, SW; Kuntz, NL; Yang, ML; Byrne, BJ; ... Beggs, AH; + view all Graham, RJ; Muntoni, F; Hughes, I; Yum, SW; Kuntz, NL; Yang, ML; Byrne, BJ; Prasad, S; Alvarez, R; Genetti, CA; Haselkorn, T; James, ES; LaRusso, LB; Noursalehi, M; Rico, S; Beggs, AH; - view fewer (2019) Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Archives of Disease in Childhood 10.1136/archdischild-2019-317910. (In press).

Grant, LR; O'Brien, SE; Burbidge, P; Haston, M; Zancolli, M; Cowell, L; Johnson, M; ... Goldblatt, D; + view all Grant, LR; O'Brien, SE; Burbidge, P; Haston, M; Zancolli, M; Cowell, L; Johnson, M; Weatherholtz, RC; Reid, R; Santosham, M; O'Brien, KL; Goldblatt, D; - view fewer (2013) Comparative immunogenicity of 7 and 13-valent pneumococcal conjugate vaccines and the development of functional antibodies to cross-reactive serotypes. PLoS One , 8 (9) , Article e74906. 10.1371/journal.pone.0074906.

Grech Sollars, M; (2014) Diffusion MRI for characterising childhood brain tumours. Doctoral thesis , UCL (University College London).

Grech-Sollars, M; Hales, PW; Miyazaki, K; Raschke, F; Rodriguez, D; Wilson, M; Gill, SK; ... Clark, CA; + view all Grech-Sollars, M; Hales, PW; Miyazaki, K; Raschke, F; Rodriguez, D; Wilson, M; Gill, SK; Banks, T; Saunders, DE; Clayden, JD; Gwilliam, MN; Barrick, TR; Morgan, PS; Davies, NP; Rossiter, J; Auer, DP; Grundy, R; Leach, MO; Howe, FA; Peet, AC; Clark, CA; - view fewer (2015) Multi-centre reproducibility of diffusion MRI parameters for clinical sequences in the brain. NMR Biomed , 28 (4) 468 - 485. 10.1002/nbm.3269.

Grech-Sollars, M; Saunders, DE; Phipps, KP; Kaur, R; Paine, SM; Jacques, TS; Clayden, JD; Grech-Sollars, M; Saunders, DE; Phipps, KP; Kaur, R; Paine, SM; Jacques, TS; Clayden, JD; Clark, CA; - view fewer (2013) Challenges for the functional diffusion map in pediatric brain tumors. Neuro Oncol , 16 (3) pp. 449-456. 10.1093/neuonc/not197.

Greenfield, K; Holley, S; Schoth, DE; Harrop, E; Howard, RF; Bayliss, J; Brook, L; ... Liossi, C; + view all Greenfield, K; Holley, S; Schoth, DE; Harrop, E; Howard, RF; Bayliss, J; Brook, L; Jassal, SS; Johnson, M; Wong, I; Liossi, C; - view fewer (2020) A mixed-methods systematic review and meta-analysis of barriers and facilitators to paediatric symptom management at end of life. Palliative Medicine , 34 (6) pp. 689-707. 10.1177/0269216320907065.

Greenfield, K; Holley, S; Schoth, DE; Bayliss, J; Anderson, A-K; Jassal, S; Rajapakse, D; ... Liossi, C; + view all Greenfield, K; Holley, S; Schoth, DE; Bayliss, J; Anderson, A-K; Jassal, S; Rajapakse, D; Fraser, LK; Mott, C; Johnson, M; Wong, I; Howard, R; Harrop, E; Liossi, C; - view fewer (2020) A protocol for a systematic review and meta-analysis to identify measures of breakthrough pain and evaluate their psychometric properties. BMJ Open , 10 (3) , Article e035541. 10.1136/bmjopen-2019-035541.

Greenfield, K; Holley, S; Schoth, DE; Harrop, E; Howard, R; Bayliss, J; Brook, L; ... Liossi, C; + view all Greenfield, K; Holley, S; Schoth, DE; Harrop, E; Howard, R; Bayliss, J; Brook, L; Jassal, S; Johnson, M; Wong, I; Liossi, C; - view fewer (2019) Barriers and facilitators experienced by patients, carers and healthcare professionals when managing symptoms in infants, children and young people at end-of-life: a mixed methods systematic review protocol. BMJ Open , 9 (7) , Article e030566. 10.1136/bmjopen-2019-030566.

Gregory, A; Lotia, M; Jeong, SY; Fox, R; Zhen, D; Sanford, L; Hamada, J; ... Hayflick, SJ; + view all Gregory, A; Lotia, M; Jeong, SY; Fox, R; Zhen, D; Sanford, L; Hamada, J; Jahic, A; Beetz, C; Freed, A; Kurian, MA; Cullup, T; van der Weijden, MCM; Nguyen, V; Setthavongsack, N; Garcia, D; Krajbich, V; Pham, T; Woltjer, R; George, BP; Minks, KQ; Paciorkowski, AR; Hogarth, P; Jankovic, J; Hayflick, SJ; - view fewer (2019) Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Molecular Genetics & Genomic Medicine , Article e736. 10.1002/mgg3.736. (In press).

Gregory, S; Crawford, H; Seunarine, K; Leavitt, B; Durr, A; Roos, RAC; Scahill, RI; ... Orth, M; + view all Gregory, S; Crawford, H; Seunarine, K; Leavitt, B; Durr, A; Roos, RAC; Scahill, RI; Tabrizi, SJ; Rees, G; Langbehn, D; Orth, M; - view fewer (2018) Natural biological variation of white matter microstructure is accentuated in Huntington's disease. Human Brain Mapping , 39 (9) pp. 3516-3527. 10.1002/hbm.24191.

Griffen, Corbin; Schoeler, Natasha E; Browne, Robert; Cameron, Tracy; Kirkpatrick, Martin; Thowfeek, Seema; Munn, Judith; ... Stratton, Rebecca J; + view all Griffen, Corbin; Schoeler, Natasha E; Browne, Robert; Cameron, Tracy; Kirkpatrick, Martin; Thowfeek, Seema; Munn, Judith; Champion, Helena; Mills, Nicole; Phillips, Siân; Air, Linda; Devlin, Anita; Nicol, Claire; Macfarlane, Susan; Bittle, Victoria; Thomas, Phillipa; Cooke, Lisa; Ackril, Julia; Allford, Astrid; Appleyard, Vanessa; Szwec, Clare; Atwal, Kiranjit; Hubbard, Gary P; Stratton, Rebecca J; - view fewer (2024) Tolerance, adherence, and acceptability of a ketogenic 2.5:1 ratio, nutritionally complete, medium chain triglyceride-containing liquid feed in children and adults with drug-resistant epilepsy following a ketogenic diet. Epilepsia Open 10.1002/epi4.12910. (In press).

Groeschel, S; Holmstroem, L; Northam, G; Tournier, J-D; Baldeweg, T; Latal, B; Caflisch, J; Groeschel, S; Holmstroem, L; Northam, G; Tournier, J-D; Baldeweg, T; Latal, B; Caflisch, J; Vollmer, B; - view fewer (2019) Motor Abilities in Adolescents Born Preterm Are Associated With Microstructure of the Corpus Callosum. Frontiers in Neurology , 10 (367) 10.3389/fneur.2019.00367.

Grosz, Bianca R; Tisch, Stephen; Tchan, Michel C; Fung, Victor SC; Darveniza, Paul; Fellner, Avi; Kurian, Manju A; ... Kumar, Kishore R; + view all Grosz, Bianca R; Tisch, Stephen; Tchan, Michel C; Fung, Victor SC; Darveniza, Paul; Fellner, Avi; Kurian, Manju A; McLean, Alison; Tomlinson, Susan E; Smyth, Renee; Devery, Sophie; Wu, Kathy HC; Kennerson, Marina L; Kumar, Kishore R; - view fewer (2022) A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular Genetics and Genomic Medicine , 10 (5) , Article e1923. 10.1002/mgg3.1923.

Guderian, S; Dzieciol, AM; Gadian, DG; Jentschke, S; Doeller, CF; Burgess, N; Mishkin, M; Guderian, S; Dzieciol, AM; Gadian, DG; Jentschke, S; Doeller, CF; Burgess, N; Mishkin, M; Vargha-Khadem, F; - view fewer (2015) Hippocampal Volume Reduction in Humans Predicts Impaired Allocentric Spatial Memory in Virtual-Reality Navigation. Journal of Neuroscience , 35 (42) pp. 14123-14131. 10.1523/JNEUROSCI.0801-15.2015.

Guglieri, M; Bushby, K; McDermott, MP; Hart, KA; Tawil, R; Martens, WB; Herr, BE; ... Chang, T; + view all Guglieri, M; Bushby, K; McDermott, MP; Hart, KA; Tawil, R; Martens, WB; Herr, BE; McColl, E; Speed, C; Wilkinson, J; Kirschner, J; King, WM; Eagle, M; Brown, MW; Willis, T; Griggs, RC; Straub, V; van Ruiten, H; Childs, AM; Ciafaloni, E; Shieh, PB; Spinty, S; Maggi, L; Baranello, G; Butterfield, RJ; Horrocks, IA; Roper, H; Alhaswani, Z; Flanigan, KM; Kuntz, NL; Manzur, A; Darras, BT; Kang, PB; Morrison, L; Krzesniak-Swinarska, M; Mah, JK; Mongini, TE; Ricci, F; von der Hagen, M; Finkel, RS; O'Reardon, K; Wicklund, M; Kumar, A; McDonald, CM; Han, JJ; Joyce, N; Henricson, EK; Schara-Schmidt, U; Gangfuss, A; Wilichowski, E; Barohn, RJ; Statland, JM; Campbell, C; Vita, G; Vita, GL; Howard, JF; Hughes, I; McMillan, HJ; Pegoraro, E; Bello, L; Burnette, WB; Thangarajh, M; Chang, T; - view fewer (2022) Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA , 327 (15) pp. 1456-1468. 10.1001/jama.2022.4315.

Guglieri, M; Clemens, PR; Perlman, SJ; Smith, EC; Horrocks, I; Finkel, RS; Mah, JK; ... Hoffman, EP; + view all Guglieri, M; Clemens, PR; Perlman, SJ; Smith, EC; Horrocks, I; Finkel, RS; Mah, JK; Deconinck, N; Goemans, N; Haberlova, J; Straub, V; Mengle-Gaw, LJ; Schwartz, BD; Harper, AD; Shieh, PB; De Waele, L; Castro, D; Yang, ML; Ryan, MM; McDonald, CM; Tulinius, M; Webster, R; McMillan, HJ; Kuntz, NL; Rao, VK; Baranello, G; Spinty, S; Childs, AM; Sbrocchi, AM; Selby, KA; Monduy, M; Nevo, Y; Vilchez-Padilla, JJ; Nascimento-Osorio, A; Niks, EH; De Groot, IJM; Katsalouli, M; James, MK; Van Den Anker, J; Damsker, JM; Ahmet, A; Ward, LM; Jaros, M; Shale, P; Dang, UJ; Hoffman, EP; - view fewer (2022) Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurology 10.1001/jamaneurol.2022.2480. (In press).

Guilliams, KP; Kirkham, FJ; Holzhauer, S; Pavlakis, S; Philbrook, B; Amlie-Lefond, C; Noetzel, MJ; ... Dowling, MM; + view all Guilliams, KP; Kirkham, FJ; Holzhauer, S; Pavlakis, S; Philbrook, B; Amlie-Lefond, C; Noetzel, MJ; Dlamini, N; Sharma, M; Carpenter, JL; Fox, CK; Torres, M; Ichord, RN; Jordan, LC; Dowling, MM; - view fewer (2019) Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management. Stroke , 50 (5) pp. 1089-1094. 10.1161/STROKEAHA.118.022800.

Guja, A; Morrow Jasper, M; Adnan, M; Roxana, G; Roberta, B; Eugenio, M; Reilly, MR; ... Yousry, TA; + view all Guja, A; Morrow Jasper, M; Adnan, M; Roxana, G; Roberta, B; Eugenio, M; Reilly, MR; Francesco, M; Yousry, TA; - view fewer (2022) Muscle "islands": an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness. Neuromuscular Disorders , 32 (2) pp. 142-149. 10.1016/j.nmd.2021.11.003.

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; ... Baruteau, Julien; + view all Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo GV; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien; - view fewer (2023) The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria. Journal of Inherited Metabolic Disease 10.1002/jimd.12691. (In press).

Gyori, N; Palombo, M; Clark, C; Zhang, H; Alexander, D; (2022) Training data distribution significantly impacts the estimation of tissue microstructure with machine learning. Magnetic Resonance in Medicine , 87 (2) pp. 932-947. 10.1002/mrm.29014.

Gyori, NG; Clark, CA; Alexander, DC; Kaden, E; (2021) On the potential for mapping apparent neural soma density via a clinically viable diffusion MRI protocol. NeuroImage , 239 , Article 118303. 10.1016/j.neuroimage.2021.118303.

H

Haack, TB; Ignatius, E; Calvo-Garrido, J; Iuso, A; Isohanni, P; Maffezzini, C; Lönnqvist, T; ... Klopstock, T; + view all Haack, TB; Ignatius, E; Calvo-Garrido, J; Iuso, A; Isohanni, P; Maffezzini, C; Lönnqvist, T; Suomalainen, A; Gorza, M; Kremer, LS; Graf, E; Hartig, M; Berutti, R; Paucar, M; Svenningsson, P; Stranneheim, H; Brandberg, G; Wedell, A; Kurian, MA; Hayflick, SA; Venco, P; Tiranti, V; Strom, TM; Dichgans, M; Horvath, R; Holinski-Feder, E; Freyer, C; Meitinger, T; Prokisch, H; Senderek, J; Wredenberg, A; Carroll, CJ; Klopstock, T; - view fewer (2016) Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia and Gaze Palsy. American Journal of Human Genetics , 99 (3) pp. 735-743. 10.1016/j.ajhg.2016.06.026.

Habib, A; Okorokov, A; Hill, M; Bras, J; Lee, M-C; Li, S; Gossage, S; ... Cox, J; + view all Habib, A; Okorokov, A; Hill, M; Bras, J; Lee, M-C; Li, S; Gossage, S; van Drimmelen, M; Morena, M; Houlden, H; Ramirez, J; Bennett, D; Srivastava, D; Cox, J; - view fewer (2019) Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. British Journal of Anaesthesia , 123 (2) e249-e253. 10.1016/j.bja.2019.02.019.

Habib, AM; Matsuyama, A; Okorokov, AL; Santana, S; Bras, JT; Aloisi, AM; Emery, EC; ... Cox, JJ; + view all Habib, AM; Matsuyama, A; Okorokov, AL; Santana, S; Bras, JT; Aloisi, AM; Emery, EC; Bogdanov, Y; Follenfant, M; Gossage, SJ; Gras, M; Humphrey, J; Kolesnikov, A; Le Cann, K; Li, S; Minett, M; Pereira, V; Ponsolles, C; Sikandar, S; Torres, JM; Yamaoka, K; Zhao, J; Komine, Y; Yamamori, T; Maniatis, N; Panov, KI; Houlden, H; Ramirez, JD; Bennett, DLH; Marsili, L; Bachiocco, V; Wood, JN; Cox, JJ; - view fewer (2018) A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain , 141 (2) pp. 365-376. 10.1093/brain/awx326.

Haenschel, C; Vernon, DJ; Dwivedi, P; Gruzelier, JH; Baldeweg, T; (2005) Event-related brain potential correlates of human auditory sensory memory-trace formation. J NEUROSCI , 25 (45) 10494 - 10501. 10.1523/JNEUROSCI.1227-05.2005.

Hafner, P; Phadke, R; Manzur, A; Smitha, R; Jaiser, S; Schutz, P; Sewry, C; ... Pitt, M; + view all Hafner, P; Phadke, R; Manzur, A; Smitha, R; Jaiser, S; Schutz, P; Sewry, C; Muntoni, F; Pitt, M; - view fewer (2019) Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review. Neuromuscular Disorders , 29 (1) pp. 14-20. 10.1016/j.nmd.2018.10.003.

Hale, Andrew T; Chari, Aswin; Scott, Rod C; Cross, J Helen; Rozzelle, Curtis J; Blount, Jeffrey P; Tisdall, Martin M; (2022) Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing? Brain , 145 (11) pp. 3755-3762. 10.1093/brain/awac275.

Hales, PW; d'Arco, F; Cooper, J; Pfeuffer, J; Hargrave, D; Mankad, K; Clark, C; (2019) Arterial spin labelling and diffusion-weighted imaging in paediatric brain tumours. Neuroimage: Clinical , 22 , Article 101696. 10.1016/j.nicl.2019.101696.

Hales, PW; Kawadler, JM; Aylett, SE; Kirkham, FJ; Clark, CA; (2014) Arterial spin labeling characterization of cerebral perfusion during normal maturation from late childhood into adulthood: normal 'reference range' values and their use in clinical studies. Journal of Cerebral Blood Flow and Metabolism , 34 (5) pp. 776-784. 10.1038/jcbfm.2014.17.

Hales, PW; Kirkham, FJ; Clark, CA; (2016) A general model to calculate the spin-lattice (T1) relaxation time of blood, accounting for haematocrit, oxygen saturation and magnetic field strength. Journal of Cerebral Blood Flow & Metabolism , 36 (2) pp. 370-374. 10.1177/0271678X15605856.

Hales, PW; Olsen, ØE; Sebire, NJ; Pritchard-Jones, K; Clark, CA; (2015) A multi-Gaussian model for apparent diffusion coefficient histogram analysis of Wilms' tumour subtype and response to chemotherapy. NMR in Biomedicine , 28 (8) pp. 948-957. 10.1002/nbm.3337.

Hales, PW; Pfeuffer, J; A. Clark, C; (2020) Combined Denoising and Suppression of Transient Artifacts in Arterial Spin Labeling MRI Using Deep Learning. Journal of Magnetic Resonance Imaging 10.1002/jmri.27255.

Hales, PW; Smith, V; Dhanoa-Hayre, D; O'Hare, P; Mankad, K; d'Arco, F; Cooper, J; ... Clark, C; + view all Hales, PW; Smith, V; Dhanoa-Hayre, D; O'Hare, P; Mankad, K; d'Arco, F; Cooper, J; Kaur, R; Phipps, K; Bowman, R; Hargrave, D; Clark, C; - view fewer (2018) Delineation of the visual pathway in paediatric optic pathway glioma patients using probabilistic tractography, and correlations with visual acuity. NeuroImage: Clinical , 17 pp. 541-548. 10.1016/j.nicl.2017.10.010.

Hall, CL; Davies, EB; Andren, P; Murphy, T; Bennett, SD; Brown, BJ; Brown, S; ... Hollis, C; + view all Hall, CL; Davies, EB; Andren, P; Murphy, T; Bennett, SD; Brown, BJ; Brown, S; Chamberlain, L; Craven, MP; Evans, A; Glazebrook, C; Heyman, I; Hunter, R; Jones, R; Kilgariff, J; Marston, L; Mataix-Cols, D; Murray, E; Sanderson, C; Serlachius, E; Hollis, C; - view fewer (2018) Investigating a therapist-guided, parent-assisted remote digital behavioural intervention for tics in children and adolescents – ‘Online Remote Behavioural Intervention for Tics’ (ORBIT) Trial: protocol of an internal pilot study and single-blind randomised controlled trial. BMJ Open , 9 (1) , Article e027583. 10.1136/bmjopen-2018-027583.

Hall, CL; Sanderson, C; Brown, BJ; Andren, P; Bennett, S; Chamberlain, LR; Davies, EB; ... Murray, E; + view all Hall, CL; Sanderson, C; Brown, BJ; Andren, P; Bennett, S; Chamberlain, LR; Davies, EB; Khan, K; Kouzoupi, N; Mataix-Cols, D; McKenzie, C; Murphy, T; Townsend, M; Hollis, C; Murray, E; - view fewer (2020) Opportunities and challenges of delivering digital clinical trials: lessons learned from a randomised controlled trial of an online behavioural intervention for children and young people. Trials , 21 , Article 1011. 10.1186/s13063-020-04902-1.

Hall, MG; Clark, CA; (2016) Diffusion in hierarchical systems: A simulation study in models of healthy and diseased muscle tissue. Magnetic Resonance in Medicine , 78 (3) pp. 1187-1198. 10.1002/mrm.26469.

Hallak, LK; Berger, K; Kaspar, R; Kwilas, AR; Montanaro, F; Peeples, ME; (2017) Efficient method for site-directed mutagenesis in large plasmids without subcloning. PLoS One , 12 (6) , Article e0177788. 10.1371/journal.pone.0177788.

Hamandi, K; Beniczky, S; Diehl, B; Kandler, RH; Pressler, RM; Sen, A; Solomon, J; ... ILAE British Chapter Workshop Attendees; + view all Hamandi, K; Beniczky, S; Diehl, B; Kandler, RH; Pressler, RM; Sen, A; Solomon, J; Walker, MC; Bagary, M; ILAE British Chapter Workshop Attendees; - view fewer (2017) Current practice and recommendations in UK epilepsy monitoring units. Report of a national survey and workshop. Seizure , 50 pp. 92-98. 10.1016/j.seizure.2017.06.015.

Hamdule, Shifa; Kirkham, Fenella J; (2023) Brain Volumes and Cognition in Patients with Sickle Cell Anaemia: A Systematic Review and Meta-Analysis. Children , 10 (8) , Article 1360. 10.3390/children10081360.

Hamdule, Shifa; Kölbel, Melanie; Stotesbury, Hanne; Murdoch, Russell; Clayden, Jonathan D; Sahota, Sati; Hood, Anna Marie; ... Kirkham, Fenella Jane; + view all Hamdule, Shifa; Kölbel, Melanie; Stotesbury, Hanne; Murdoch, Russell; Clayden, Jonathan D; Sahota, Sati; Hood, Anna Marie; Clark, Christopher A; Kirkham, Fenella Jane; - view fewer (2023) Effects of regional brain volumes on cognition in sickle cell anemia: A developmental perspective. Frontiers in Neurology , 14 , Article 1101223. 10.3389/fneur.2023.1101223.

Hammond, SM; Hazell, G; Shabanpoor, F; Saleh, AF; Bowerman, M; Sleigh, JN; Meijboom, KE; ... Wood, MJ; + view all Hammond, SM; Hazell, G; Shabanpoor, F; Saleh, AF; Bowerman, M; Sleigh, JN; Meijboom, KE; Zhou, H; Muntoni, F; Talbot, K; Gait, MJ; Wood, MJ; - view fewer (2016) Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America , 113 (39) pp. 10962-10967. 10.1073/pnas.1605731113.

Hamurtekin, E; Fitzsimmons, BL; Shubayev, VI; Grafe, MR; Deumens, R; Yaksh, TL; Walker, SM; (2013) Evaluation of Spinal Toxicity and Long-term Spinal Reflex Function after Intrathecal Levobupivaciane in the Neonatal Rat. Anesthesiology , 119 (1) 142 - 155. 10.1097/ALN.0b013e31828fc7e7.

Handley, SE; Vargha-Khadem, F; Bowman, RJ; Liasis, A; (2017) Visual Function Twenty Years After Childhood Hemispherectomy for Intractable Epilepsy. American Journal of Ophthalmology , 177 pp. 81-89. 10.1016/j.ajo.2017.02.014.

Hands, C; Hands, S; Verriotis, M; Bunn, J; Bailey, E; Samuels, RJ; Sankoh, K; ... Taylor, S; + view all Hands, C; Hands, S; Verriotis, M; Bunn, J; Bailey, E; Samuels, RJ; Sankoh, K; Mustapha, A; Williams, B; Taylor, S; - view fewer (2021) Emergency Triage Assessment and Treatment Plus (ETAT+): adapting training to strengthen quality improvement and task-sharing in emergency paediatric care in Sierra Leone. Journal of global health , 11 , Article 04069. 10.7189/jogh.11.04069.

Hands, S; Verriotis, M; Mustapha, A; Ragab, H; Hands, C; (2020) Nurse-led implementation of ETAT plus is associated with reduced mortality in a children's hospital in Freetown, Sierra Leone. Paediatrics and International Child Health , 40 (3) pp. 186-193. 10.1080/20469047.2020.1713610.

Harden, C; Tomson, T; Gloss, D; Buchhalter, J; Cross, JH; Donner, E; French, JA; ... Ryvlin, P; + view all Harden, C; Tomson, T; Gloss, D; Buchhalter, J; Cross, JH; Donner, E; French, JA; Gil-Nagel, A; Hesdorffer, DC; Smithson, WH; Spitz, MC; Walczak, TS; Sander, JW; Ryvlin, P; - view fewer (2017) Practice guideline summary: Sudden unexpected death in epilepsy incidence rates and risk factors Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology , 88 (17) pp. 1674-1680. 10.1212/WNL.0000000000003685.

Harden, C; Tomson, T; Gloss, D; Buchhalter, J; Cross, JH; Donner, E; French, JA; ... Ryvlin, P; + view all Harden, C; Tomson, T; Gloss, D; Buchhalter, J; Cross, JH; Donner, E; French, JA; Gil-Nagel, A; Hesdorffer, DC; Smithson, WH; Spitz, MC; Walczak, TS; Sander, JW; Ryvlin, P; - view fewer (2017) Practice Guideline Summary: Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Epilepsy Currents , 17 (3) pp. 180-187. 10.5698/1535-7511.17.3.180.

Hargreaves, DS; Arora, S; Viveiro, C; Hale, DR; Ward, JL; Sherlaw-Johnson, C; Viner, RM; ... Cross, JH; + view all Hargreaves, DS; Arora, S; Viveiro, C; Hale, DR; Ward, JL; Sherlaw-Johnson, C; Viner, RM; Dunkley, C; Cross, JH; - view fewer (2019) Association of quality of paediatric epilepsy care with mortality and unplanned hospital admissions among children and young people with epilepsy in England: a national longitudinal data linkage study. The Lancet Child & Adolescent Health , 3 (9) pp. 627-635. 10.1016/S2352-4642(19)30201-9.

Harkness, W; (2018) Presidential address 2017 William Harkness FRCS October 10th 2017 Denver, Co USA: 2017—annus mirabilis, a global view of neurosurgery for children. Child's Nervous System , 34 (10) pp. 1817-1836. 10.1007/s00381-018-3931-6.

Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; ... Zech, Michael; + view all Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R; Mencacci, Niccolo E; Kurian, Manju A; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael; - view fewer (2023) Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement Disorders 10.1002/mds.29562.

Harrop, E; Liossi, C; Jamieson, L; Gastine, S; Oulton, K; Skene, SS; Howard, RF; ... Wong, ICK; + view all Harrop, E; Liossi, C; Jamieson, L; Gastine, S; Oulton, K; Skene, SS; Howard, RF; Johnson, M; Boyce, K; Mitchell, L; Jassal, SS; Anderson, A-K; Hain, RD; Warlow, T; Hills, M; Bayliss, J; Soman, S; Vickers, D; Mellor, C; Laddie, J; Wong, ICK; - view fewer (2021) Consensus for methods and outcomes in trials of oral morphine versus transmucosal diamorphine for breakthrough pain in children in the UK: the DIPPER study. BMJ Supportive and Palliative Care 10.1136/bmjspcare-2021-003278. (In press).

Hartley, C; Berthouze, L; Mathieson, SR; Boylan, GB; Rennie, JM; Marlow, N; Farmer, SF; (2012) Long-range temporal correlations in the EEG bursts of human preterm babies. PLoS One , 7 (2) , Article e31543. 10.1371/journal.pone.0031543.

Hartley, C; Farmer, S; Berthouze, L; (2020) Temporal ordering of input modulates connectivity formation in a developmental neuronal network model of the cortex. PLoS One , 15 (1) , Article e0226772. 10.1371/journal.pone.0226772.

Hartley, C; Taylor, TJ; Kiss, IZ; Farmer, SF; Berthouze, L; (2014) Identification of criticality in neuronal avalanches: II. A theoretical and empirical investigation of the driven case. Journal of Mathematical Neuroscience , 4 , Article 9. 10.1186/2190-8567-4-9.

Hasan, S; Chari, A; Ganau, M; Uff, C; (2019) Defining New Research Questions and Protocols in the Field of Traumatic Brain Injury through Public Engagement: Preliminary Results and Review of the Literature. Emergency Medicine International , 2019 , Article 9101235. 10.1155/2019/9101235.

Hashimoto, Yasumasa; Kuniishi, Hiroshi; Sakai, Kazuhisa; Fukushima, Yuta; Du, Xuan; Yamashiro, Kunihiko; Hori, Kei; ... Aoki, Yoshitsugu; + view all Hashimoto, Yasumasa; Kuniishi, Hiroshi; Sakai, Kazuhisa; Fukushima, Yuta; Du, Xuan; Yamashiro, Kunihiko; Hori, Kei; Imamura, Michihiro; Hoshino, Mikio; Yamada, Mitsuhiko; Araki, Toshiyuki; Sakagami, Hiroyuki; Takeda, Shin'ichi; Itaka, Keiji; Ichinohe, Noritaka; Muntoni, Francesco; Sekiguchi, Masayuki; Aoki, Yoshitsugu; - view fewer (2022) Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy. Progress in Neurobiology , 216 , Article 102288. 10.1016/j.pneurobio.2022.102288.

Hawks, Z; Hood, AM; Lerman-Sinkoff, DB; Shimony, JS; Rutlin, J; Lagoni, D; Grange, DK; Hawks, Z; Hood, AM; Lerman-Sinkoff, DB; Shimony, JS; Rutlin, J; Lagoni, D; Grange, DK; White, DA; - view fewer (2019) White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage: Clinical , 23 , Article 101916. 10.1016/j.nicl.2019.101916.

Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; ... St Pourcain, B; + view all Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; Wang, C; Ahluwalia, TS; Vrijheid, M; Guxens, M; Sunyer, J; Tachmazidou, I; Walter, K; Iotchkova, V; Jackson, A; Cleal, L; Huffmann, J; Min, JL; Sass, L; Timmers, PRHJ; Al Turki, S; Anderson, CA; Anney, R; Antony, D; Artigas, MS; Ayub, M; Bala, S; Barrett, JC; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Birney, E; Blackwood, D; Bobrow, M; Bochukova, E; Bolton, PF; Bounds, R; Boustred, C; Breen, G; Calissano, M; Carss, K; Charlton, R; Chatterjee, K; Chen, L; Ciampi, A; Cirak, S; Clapham, P; Clement, G; Coates, G; Cocca, M; Collier, DA; Cosgrove, C; Cox, T; Craddock, N; Crooks, L; Curran, S; Curtis, D; Daly, A; Danecek, P; Day, INM; Day-Williams, A; Dominiczak, A; Down, T; Du, Y; Dunham, I; Durbin, R; Edkins, S; Ekong, R; Ellis, P; Evans, DM; Farooqi, IS; Fitzpatrick, DR; Flicek, P; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Gallagher, L; Gaunt, TR; Geihs, M; Geschwind, D; Greenwood, CMT; Griffin, H; Grozeva, D; Guo, X; Guo, X; Gurling, H; Hart, D; Hendricks, AE; Holmans, P; Howie, B; Huang, J; Huang, L; Hubbard, T; Humphries, SE; Hurles, ME; Hysi, P; Jackson, DK; Jamshidi, Y; Joyce, C; Karczewski, KJ; Kaye, J; Keane, T; Kemp, JP; Kennedy, K; Kent, A; Keogh, J; Khawaja, F; van Kogelenberg, M; Kolb-Kokocinski, A; Lachance, G; Langford, C; Lawson, D; Lee, I; Lek, M; Li, R; Li, Y; Liang, J; Lin, H; Liu, R; Lonnqvist, J; Lopes, LR; Lopes, M; MacArthur, DG; Mangino, M; Marchini, J; Marenne, G; Maslen, J; Mathieson, I; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Memari, Y; Metrustry, S; Migone, N; Mitchison, HM; Moayyeri, A; Morris, A; Morris, J; Muddyman, D; Muntoni, F; Northstone, K; O'Donovan, MC; O'Rahilly, S; Onoufriadis, A; Oualkacha, K; Owen, MJ; Palotie, A; Panoutsopoulou, K; Parker, V; Parr, JR; Paternoster, L; Paunio, T; Payne, F; Payne, SJ; Perry, JRB; Pietilainen, O; Plagnol, V; Pollitt, RC; Porteous, DJ; Povey, S; Quail, MA; Quaye, L; Raymond, FL; Rehnstrom, K; Richards, JB; Ridout, CK; Ring, S; Ritchie, GRS; Roberts, N; Robinson, RL; Savage, DB; Scambler, P; Schiffels, S; Schmidts, M; Schoenmakers, N; Scott, RH; Semple, RK; Serra, E; Sharp, SI; Shaw, A; Shihab, HA; Shin, S-Y; Skuse, D; Small, KS; Smee, C; Smith, BH; Soranzo, N; Southam, L; Spasic-Boskovic, O; Spector, TD; St Clair, D; Stalker, J; Stevens, E; Sun, J; Surdulescu, G; Suvisaari, J; Syrris, P; Taylor, R; Tian, J; Tobin, MD; Valdes, AM; Vandersteen, AM; Vijayarangakannan, P; Visscher, PM; Wain, LV; Walters, JTR; Wang, G; Wang, J; Wang, Y; Ward, K; Wheeler, E; Whyte, T; Williams, HJ; Williamson, KA; Wilson, C; Wilson, SG; Wong, K; Xu, C; Yang, J; Zhang, F; Zhang, P; Zheng, H-F; Smith, GD; Fisher, SE; Wilson, JF; Cole, TJ; Fernandez-Orth, D; Bonnelykke, K; Bisgaard, H; Pennell, CE; Jaddoe, VWV; Dedoussis, G; Timpson, N; Zeggini, E; Vitart, V; St Pourcain, B; - view fewer (2019) Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications , 10 , Article 357. 10.1038/s41467-018-07863-x.

Hayflick, SJ; Kurian, MA; Hogarth, P; (2018) Chapter 19 - Neurodegeneration with brain iron accumulation. Handbook of Clinical Neurology , 147 pp. 293-305. 10.1016/B978-0-444-63233-3.00019-1.

Hedberg-Oldfors, C; Abramsson, A; Osborn, DPS; Danielsson, O; Fazlinezhad, A; Nilipour, Y; Hübbert, L; ... Jamshidi, Y; + view all Hedberg-Oldfors, C; Abramsson, A; Osborn, DPS; Danielsson, O; Fazlinezhad, A; Nilipour, Y; Hübbert, L; Nennesmo, I; Visuttijai, K; Bharj, J; Petropoulou, E; Shoreim, A; Vona, B; Ahangari, N; López, MD; Doosti, M; Banote, RK; Maroofian, R; Edling, M; Taherpour, M; Zetterberg, H; Karimiani, EG; Oldfors, A; Jamshidi, Y; - view fewer (2019) Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Human Molecular Genetics , 28 (11) pp. 1919-1929. 10.1093/hmg/ddz032.

Henderson, MET; Brayson, D; Halsey, LG; (2021) The cardio‐respiratory effects of passive heating and the human thermoneutral zone. Physiological Reports , 9 (16) , Article e14973. 10.14814/phy2.14973.

Hendricks, AE; Bochukova, EG; Marenne, G; Keogh, JM; Atanassova, N; Bounds, R; Wheeler, E; ... Bhattacharyaa, S; + view all Hendricks, AE; Bochukova, EG; Marenne, G; Keogh, JM; Atanassova, N; Bounds, R; Wheeler, E; Mistry, V; Henning, E; Körner, A; Muddyman, D; McCarthy, S; Hinney, A; Hebebrand, J; Scott, RA; Langenberg, C; Wareham, NJ; Surendran, P; Howson, JM; Butterworth, AS; Danesh, J; Nordestgaard, BG; Nielsen, SF; Afzal, S; Papadia, S; Ashford, S; Garg, S; Millhauser, GL; Palomino, RI; Kwasniewska, A; Tachmazidou, I; O'Rahilly, S; Zeggini, E; Barroso, I; Farooqi, IS; Benzeval, M; Burton, J; Buck, N; Jäckle, A; Kumari, M; Laurie, H; Lynn, P; Pudney, S; Rabe, B; Wolke, D; Overvad, K; Tjønneland, A; Clavel-Chapelon, F; Kaaks, R; Boeing, H; Trichopoulou, A; Ferrari, P; Palli, D; Krogha, V; Panico, S; Tuminoa, R; Matullo, G; Boer, J; Van Der Schouw, Y; Weiderpass, E; Quiros, JR; Sánchez, MJ; Navarro, C; Moreno-Iribas, C; Arriola, L; Melander, O; Wennberg, P; Key, TJ; Riboli, E; Turki, SA; Anderson, CA; Anney, R; Antony, D; Soler Artigas, M; Ayub, M; Bala, S; Barrett, JC; Beales, P; Bentham, J; Bhattacharyaa, S; - view fewer (2017) Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Scientific Reports , 7 (1) , Article 4394. 10.1038/s41598-017-03054-8.

Hendriksen, Jos; Weerkamp, Pien; Miranda, Ruben; Kolesnik, Anna; Chieffo, Daniela; Skuse, David; Vroom, Elizabeth; ... BIND WP5 working group; + view all Hendriksen, Jos; Weerkamp, Pien; Miranda, Ruben; Kolesnik, Anna; Chieffo, Daniela; Skuse, David; Vroom, Elizabeth; Geagan, Chloe; Muntoni, Francesco; Mercuri, Eugenio; BIND WP5 working group; - view fewer (2024) Towards harmonization of clinical tools for assessing Brain Involvement in Dystrophinopathies (BIND); report of four expert workshops: Newcastle, Leiden, Rome, Paris. Neuromuscul Disord , 44 , Article 104452. 10.1016/j.nmd.2024.104452.

Hendriksen, JGM; Thangarajh, M; Kan, HE; Muntoni, F; ENMC 249th workshop study group; (2020) 249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th-December 1st 2019. Neuromuscular Disorders , 30 (9) pp. 782-794. 10.1016/j.nmd.2020.08.357.

Henshall, DC; Guerrini, R; Jozwiak, S; Kokaia, M; Pitkanen, A; Sisodiya, S; Simonato, M; ... Sofia, F; + view all Henshall, DC; Guerrini, R; Jozwiak, S; Kokaia, M; Pitkanen, A; Sisodiya, S; Simonato, M; Cross, JH; Ryvlin, P; Brodie, MJ; Trinka, E; Sofia, F; - view fewer (2021) Meeting report: EpiXchange II brings together European epilepsy research projects to discuss latest advances. Epilepsy Research , 178 , Article 106811. 10.1016/j.eplepsyres.2021.106811.

Heslop, E; Turner, C; Irvin, A; Muntoni, F; Straub, V; Guglieri, M; (2021) Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead. Neuromuscular Disorders , 31 (1) pp. 69-78. 10.1016/j.nmd.2020.10.001.

Heywood, WE; Bliss, E; Mills, P; Yuzugulen, J; Carreno, G; Clayton, PT; Muntoni, F; ... Grunewald, S; + view all Heywood, WE; Bliss, E; Mills, P; Yuzugulen, J; Carreno, G; Clayton, PT; Muntoni, F; Worthington, VC; Torelli, S; Sebire, NJ; Mills, K; Grunewald, S; - view fewer (2016) Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Molecular Genetics and Metabolism Reports , 7 pp. 55-62. 10.1016/j.ymgmr.2016.03.002.

Hikmat, O; Isohanni, P; Keshavan, N; Ferla, MP; Fassone, E; Abbott, M-A; Bellusci, M; ... Rahman, S; + view all Hikmat, O; Isohanni, P; Keshavan, N; Ferla, MP; Fassone, E; Abbott, M-A; Bellusci, M; Darin, N; Dimmock, D; Ghezzi, D; Houlden, H; Invernizzi, F; Kamarus Jaman, NB; Kurian, MA; Morava, E; Naess, K; Ortigoza-Escobar, JD; Parikh, S; Pennisi, A; Barcia, G; Tylleskär, KB; Brackman, D; Wortmann, SB; Taylor, JC; Bindoff, LA; Fellman, V; Rahman, S; - view fewer (2021) Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of Clinical and Translational Neurology , 8 (11) pp. 2155-2165. 10.1002/acn3.51470.

Hikmat, O; Tzoulis, C; Chong, WK; Chentouf, L; Klingenberg, C; Fratter, C; Carr, LJ; ... Rahman, S; + view all Hikmat, O; Tzoulis, C; Chong, WK; Chentouf, L; Klingenberg, C; Fratter, C; Carr, LJ; Prabhakar, P; Kumaraguru, N; Gissen, P; Cross, JH; Jacques, TS; Taanman, J-W; Bindoff, LA; Rahman, S; - view fewer (2017) The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine , 19 (11) pp. 1217-1225. 10.1038/gim.2017.35.

Hildebrand, ME; Xu, J; Dedek, A; Li, Y; Sengar, AS; Beggs, S; Lombroso, PJ; Hildebrand, ME; Xu, J; Dedek, A; Li, Y; Sengar, AS; Beggs, S; Lombroso, PJ; Salter, MW; - view fewer (2016) Potentiation of Synaptic GluN2B NMDAR Currents by Fyn Kinase Is Gated through BDNF-Mediated Disinhibition in Spinal Pain Processing. Cell Reports , 17 (10) pp. 2753-2765. 10.1016/j.celrep.2016.11.024.

Hildebrand, MS; Jackson, VE; Scerri, TS; Van Reyk, O; Coleman, M; Braden, RO; Turner, S; ... Morgan, AT; + view all Hildebrand, MS; Jackson, VE; Scerri, TS; Van Reyk, O; Coleman, M; Braden, RO; Turner, S; Rigbye, KA; Boys, A; Barton, S; Webster, R; Fahey, M; Saunders, K; Parry-Fielder, B; Paxton, G; Hayman, M; Coman, D; Goel, H; Baxter, A; Ma, A; Davis, N; Reilly, S; Delatycki, M; Liégeois, FJ; Connelly, A; Gecz, J; Fisher, SE; Amor, DJ; Scheffer, IE; Bahlo, M; Morgan, AT; - view fewer (2020) Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology , 94 (20) e2148-e2167. 10.1212/WNL.0000000000009441.

Hill, Matilda; Iro, Mildred; Sadarangani, Manish; Absoud, Michael; Cantrell, Liberty; Chong, Kling; Clark, Christopher; ... The IgNiTE study team; + view all Hill, Matilda; Iro, Mildred; Sadarangani, Manish; Absoud, Michael; Cantrell, Liberty; Chong, Kling; Clark, Christopher; Easton, Ava; Gray, Victoria; Kneen, Rachel; Lim, Ming; Liu, Xinxue; Pike, Michael; Solomon, Tom; Vincent, Angela; Willis, Louise; Yu, Ly-Mee; Pollard, Andrew J; The IgNiTE study team; - view fewer (2023) Intravenous immunoglobulin treatment in childhood encephalitis (IgNiTE): a randomised controlled trial. BMJ open , 13 (11) , Article e072134. 10.1136/bmjopen-2023-072134.

Hill, CM; Baya, A; Gavlak, J; Carroll, A; Heathcote, K; Dimitriou, D; L'Esperance, V; ... Hogan, AM; + view all Hill, CM; Baya, A; Gavlak, J; Carroll, A; Heathcote, K; Dimitriou, D; L'Esperance, V; Webster, R; Holloway, J; Virues-Ortega, J; Kirkham, FJ; Bucks, RS; Hogan, AM; - view fewer (2016) Adaptation to Life in the High Andes: Nocturnal Oxyhemoglobin Saturation in Early Development. Sleep , 39 (5) pp. 1001-1008. 10.5665/sleep.5740.

Hill, CS; Borg, A; Tahir, MZ; Thompson, DNP; (2020) Atlantoaxial rotatory fixation in childhood: a staged management strategy incorporating manipulation under anaesthesia. Child's Nervous System 10.1007/s00381-020-04727-y. (In press).

Hill, NE; Murphy, KG; Saeed, S; Phadke, R; Chambers, D; Wilson, DR; Brett, SJ; Hill, NE; Murphy, KG; Saeed, S; Phadke, R; Chambers, D; Wilson, DR; Brett, SJ; Singer, M; - view fewer (2017) Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness. PLoS ONE , 12 (8) , Article e0182659. 10.1371/journal.pone.0182659.

Hiller, M; Falzarano, MS; Garcia-Jimenez, I; Sardone, V; Verheul, RC; Popplewell, L; Anthony, K; ... Spitali, P; + view all Hiller, M; Falzarano, MS; Garcia-Jimenez, I; Sardone, V; Verheul, RC; Popplewell, L; Anthony, K; Ruiz-Del-Yerro, E; Osman, H; Goeman, JJ; Mamchaoui, K; Dickson, G; Ferlini, A; Muntoni, F; Aartsma-Rus, A; Arechavala-Gomeza, V; Datson, NA; Spitali, P; - view fewer (2018) A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. PLoS One , 13 (10) , Article e0204485. 10.1371/journal.pone.0204485.

Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; ... Blau, Nenad; + view all Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; Zeev, Bruria Ben; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H; Flint, Lisa; García-Cazorla, Àngels; Gijavanekar, Charul; Gümüş, Emel Yılmaz; Hamad, Muddathir H; Hişmi, Burcu; Honzik, Tomas; Hübschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Kasapkara, Çiğdem Seher; Kurian, Manju A; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L; Pérez, Belén; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thöny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad; - view fewer (2023) Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Molecular Genetics and Metabolism , 139 (3) , Article 107624. 10.1016/j.ymgme.2023.107624.

Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; ... Baxter, P; + view all Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; Maguire, C; Cantrill, H; Scott, E; Epps, H; Main, M; Geary, M; McMurchie, H; Pallant, L; Woods, D; Freeman, J; Lee, E; Eagle, M; Willis, T; Muntoni, F; Baxter, P; - view fewer (2017) Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation. Health Technology Assessment , 21 (27) 10.3310/hta21270.

Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; ... Baxter, P; + view all Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; Maguire, C; Cantrill, H; Scott, E; Epps, H; Main, M; Geary, M; McMurchie, H; Pallant, L; Woods, D; Freeman, J; Lee, E; Eagle, M; Willis, T; Muntoni, F; Baxter, P; - view fewer (2017) Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial. Pilot and Feasibility Studies , 3 , Article 16. 10.1186/s40814-017-0132-0.

Hirtz, D; Kirkham, FJ; (2019) Sickle Cell Disease and Stroke. Pediatric Neurology , 95 pp. 34-41. 10.1016/j.pediatrneurol.2019.02.018.

Ho, Natalie CW; Bethlehem, Richard Ai; Seidlitz, Jakob; Nogovitsyn, Nikita; Metzak, Paul; Ballester, Pedro L; Hassel, Stefanie; ... Dunlop, Katharine; + view all Ho, Natalie CW; Bethlehem, Richard Ai; Seidlitz, Jakob; Nogovitsyn, Nikita; Metzak, Paul; Ballester, Pedro L; Hassel, Stefanie; Rotzinger, Susan; Poppenk, Jordan; Lam, Raymond W; Taylor, Valerie H; Milev, Roumen; Lifespan Brain Chart, Consortium; Bullmore, Edward T; Alexander-Bloch, Aaron F; Frey, Benicio N; Harkness, Kate L; Addington, Jean; Kennedy, Sidney H; Dunlop, Katharine; - view fewer (2024) Atypical Brain Aging and Its Association With Working Memory Performance in Major Depressive Disorder. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging , 9 (8) pp. 786-799. 10.1016/j.bpsc.2024.04.008.

Hobson, JA; Hobson, RP; (2007) Identification: The missing link between joint attention and imitation? DEV PSYCHOPATHOL , 19 (2) 411 - 431. 10.1017/S0954579407070204.

Hobson, RP; (2014) The coherence of autism. Autism , 18 (1) 6 - 16. 10.1177/1362361313497538.

Hobson, RP; (2004) Understanding self and other. BEHAV BRAIN SCI , 27 (1) 109 - 110. 10.1017/S0140525X04360036.

HOBSON, RP; (1995) APPREHENDING ATTITUDES AND ACTIONS - SEPARABLE ABILITIES IN EARLY DEVELOPMENT. DEV PSYCHOPATHOL , 7 (1) 171 - 182. 10.1017/S0954579400006404.

Hobson, RP; Patrick, M; Crandell, L; Garcia-Perez, R; Lee, A; (2005) Personal relatedness and attachment in infants of mothers with borderline personality disorder. DEV PSYCHOPATHOL , 17 (2) 329 - 347. 10.1017/S0954579405050169.

Hogan, AM; Telfer, PT; Kirkham, FJ; de Haan, M; (2013) Precursors of executive function in infants with sickle cell anemia. Journal of Child Neurology , 28 (10) 1197 -1202. 10.1177/0883073812453495.

Hogarth, P; Kurian, MA; Gregory, A; Csányi, B; Zagustin, T; Kmiec, T; Wood, P; ... Hayflick, SJ; + view all Hogarth, P; Kurian, MA; Gregory, A; Csányi, B; Zagustin, T; Kmiec, T; Wood, P; Klucken, A; Scalise, N; Sofia, F; Klopstock, T; Zorzi, G; Nardocci, N; Hayflick, SJ; - view fewer (2017) Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). Mol Genet Metab , 120 (3) pp. 278-287. 10.1016/j.ymgme.2016.11.004.

Holl, DC; Chari, A; Iorio-Morin, C; Dammers, R; van der Gaag, NA; Kolias, AG; Hutchinson, PJ; Holl, DC; Chari, A; Iorio-Morin, C; Dammers, R; van der Gaag, NA; Kolias, AG; Hutchinson, PJ; Edlmann, E; - view fewer (2021) Study Protocol on Defining Core Outcomes and Data Elements in Chronic Subdural Haematoma. Neurosurgery , 89 (4) pp. 720-725. 10.1093/neuros/nyab268.

Hollis, C; Hall, CL; Jones, R; Marston, L; Novere, ML; Hunter, R; Brown, BJ; ... Murray, E; + view all Hollis, C; Hall, CL; Jones, R; Marston, L; Novere, ML; Hunter, R; Brown, BJ; Sanderson, C; Andrén, P; Bennett, SD; Chamberlain, LR; Davies, EB; Evans, A; Kouzoupi, N; McKenzie, C; Heyman, I; Khan, K; Kilgariff, J; Glazebrook, C; Mataix-Cols, D; Murphy, T; Serlachius, E; Murray, E; - view fewer (2021) Therapist-supported online remote behavioural intervention for tics in children and adolescents in England (ORBIT): a multicentre, parallel group, single-blind, randomised controlled trial. The Lancet Psychiatry , 8 (10) pp. 871-882. 10.1016/S2215-0366(21)00235-2.

Hong, Y; Keylock, A; Jensen, B; Jacques, TS; Ogunbiyi, O; Omoyinmi, E; Saunders, D; ... Eleftheriou, D; + view all Hong, Y; Keylock, A; Jensen, B; Jacques, TS; Ogunbiyi, O; Omoyinmi, E; Saunders, D; Mallick, AA; Tooley, M; Newbury-Ecob, R; Rankin, J; Williams, HJ; Ganesan, V; Brogan, PA; Eleftheriou, D; - view fewer (2020) Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene. Neurology Genetics , 6 (4) , Article e448. 10.1212/NXG.0000000000000448.

Hood, A; (2020) Mental Health and Quality of Life in Paediatric Chronic Illness Populations. Presented at: Health and Wellbeing Seminar, London, UK.

Hood, A; (2019) Interventions to Improve Cognitive Outcomes. Presented at: 6th Annual Sickle Cell Patient & Family Symposium, Plano, TX, USA.

Hood, A; Crosby, L; Lebensburger, J; Madan-Swain, A; Rumble, D; Trost, Z; (2019) Older female children experience poorer quality of life when levels of perceived racial bias are high. Presented at: 14th Annual Academy of Sickle Cell and Thalassaemia conference (ASCAT 2019), London, UK.

Hood, A; Nwankwo, C; Kidwell, K; Joffe, N; McTate, E; Crosby, L; (2019) Self-Management Intervention Improves Behavioral Activation in Adolescents and Young Adults with Sickle Cell Disease. Presented at: Society of Pediatric Psychology Annual Conference 2019, New Orleans, LA, USA.

Hood, AM; Crosby, LE; Hanson, E; Shook, LM; Lebensburger, JD; Madan-Swain, A; Miller, MM; Hood, AM; Crosby, LE; Hanson, E; Shook, LM; Lebensburger, JD; Madan-Swain, A; Miller, MM; Trost, Z; - view fewer (2020) The influence of perceived racial bias and health-related stigma on quality of life among children with sickle cell disease. Ethnicity & Health 10.1080/13557858.2020.1817340. (In press).

Hood, AM; Kölbel, M; Stotesbury, H; Kawadler, J; Slee, A; Inusa, B; Pelidis, M; ... Liossi, C; + view all Hood, AM; Kölbel, M; Stotesbury, H; Kawadler, J; Slee, A; Inusa, B; Pelidis, M; Howard, J; Chakravorty, S; Height, S; Awogbade, M; Kirkham, FJ; Liossi, C; - view fewer (2021) Biopsychosocial Predictors of Quality of Life in Paediatric Patients With Sickle Cell Disease. Frontiers in Psychology , 12 , Article 681137. 10.3389/fpsyg.2021.681137.

Hood, AM; Nwankwo, C; McTate, E; Joffe, NE; Quinn, CT; Peugh, JL; Crosby, LE; (2020) Mobile Health Use Predicts Self-Efficacy and Self-Management in Adolescents with Sickle Cell Disease. Presented at: 62nd ASH Annual Meeting and Exposition, Virtual conference.

Hood, AM; Nwankwo, C; Walton, A; McTate, E; Joffe, N; Quinn, CT; Britto, MT; ... Crosby, LE; + view all Hood, AM; Nwankwo, C; Walton, A; McTate, E; Joffe, N; Quinn, CT; Britto, MT; Peugh, J; Mara, CA; Crosby, LE; - view fewer (2021) Mobile health use predicts self-efficacy and self-management in adolescents with sickle cell disease. Translational Behavioral Medicine , 11 (10) pp. 1823-1831. 10.1093/tbm/ibab041.

Hood, AM; Stotesbury, H; Kölbel, M; DeHaan, M; Downes, M; Kawadler, JM; Sahota, S; ... Kirkham, FJ; + view all Hood, AM; Stotesbury, H; Kölbel, M; DeHaan, M; Downes, M; Kawadler, JM; Sahota, S; Dimitriou, D; Inusa, B; Wilkey, O; Pelidis, M; Trompeter, S; Leigh, A; Younis, J; Drasar, E; Chakravorty, S; Rees, DC; Height, S; Lawson, S; Gavlak, J; Gupta, A; Ridout, D; Clark, CA; Kirkham, FJ; - view fewer (2021) Study of montelukast in children with sickle cell disease (SMILES): a study protocol for a randomised controlled trial. Trials , 22 , Article 690. 10.1186/s13063-021-05626-6.

Hood, AM; Stotesbury, H; Murphy, J; Kölbel, M; Slee, A; Springall, C; Paradis, M; ... Crosby, LE; + view all Hood, AM; Stotesbury, H; Murphy, J; Kölbel, M; Slee, A; Springall, C; Paradis, M; Corral-Frías, NS; Reyes-Aguilar, A; Cuellar Barboza, AB; Noser, AE; Gomes, S; Mitchell, M; Watkins, SM; Butsch Kovacic, M; Kirkham, FJ; Crosby, LE; - view fewer (2021) Attitudes About COVID-19 and Health (ATTACH): Online Survey and Mixed Methods Study. JMIR Mental Health , 8 (10) , Article e29963. 10.2196/29963.

Hood, AM; Strong, H; Nwankwo, C; Johnson, Y; Mara, CA; Shook, LM; Brinkman, W; ... Crosby, LE; + view all Hood, AM; Strong, H; Nwankwo, C; Johnson, Y; Mara, CA; Shook, LM; Brinkman, W; Real, FJ; Klein, M; King, AA; Calhoun, C; Smith-Whitley, K; Creary, SE; Britto, MT; Saving, KL; Piccone, CM; Raphael, JL; Volanakis, E; Hildenbrand, AK; Reader, SK; Rana, S; Neumayr, LD; Yates, AM; Badawy, SM; Thompson, AA; Sobota, A; Meier, ER; Quinn, CT; Crosby, LE; - view fewer (2020) Addressing Recruitment Challenges in the Engage-HU Trial in Young Children with Sickle Cell Disease. Blood , 136 (Sup 1) pp. 26-27. 10.1182/blood-2020-141471.

Hood, Anna M; Crosby, Lori E; Stotesbury, Hanne; Kölbel, Melanie; Kirkham, Fenella J; (2022) Considerations for Selecting Cognitive Endpoints and Psychological Patient-Reported Outcomes for Clinical Trials in Pediatric Patients With Sickle Cell Disease. Frontiers in Neurology , 13 , Article 835823. 10.3389/fneur.2022.835823.

Hood, A; Crosby, L; Joffe, N; Kidwell, K; Onengiya, H; McTate, E; Nwankwo, C; (2021) Perceptions of a self-management intervention for adolescents with sickle cell disease. Clinical Practice in Pediatric Psychology 10.1037/cpp0000334. (In press).

Hood, A; Pulvers, K; (2018) Methodological and Statistical Challenges in the Study of How Anxiety and Stress Impair Working Memory Performance. SAGE Research Methods Cases in Psychology 10.4135/9781526449153.

Hood, A; Rutlin, J; Shimony, JS; Grange, DK; White, DA; (2016) Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. JIMD Reports , 33 pp. 41-47. 10.1007/8904_2016_579.

Hood, AM; Johnson, Y; Nwankwo, C; Shook, LM; Hildenbrand, AK; King, AA; Smith-Whitley, K; ... Crosby, LE; + view all Hood, AM; Johnson, Y; Nwankwo, C; Shook, LM; Hildenbrand, AK; King, AA; Smith-Whitley, K; Badawy, SM; Thompson, AA; Creary, SE; Piccone, CM; Neumayr, LD; Raphael, JL; Yates, AM; Rana, S; Reader, SK; Meier, ER; Sobota, A; Crosby, LE; - view fewer (2019) Clinical Practice Patterns for Hydroxyurea Initiation in Young Children with Sickle Cell Disease. Presented at: 61st ASH Annual Meeting, Orlando, FL, USA.

Hood, AM; King, AA; Fields, ME; Ford, AL; Guilliams, KP; Hulbert, ML; Lee, J-M; Hood, AM; King, AA; Fields, ME; Ford, AL; Guilliams, KP; Hulbert, ML; Lee, J-M; White, DA; - view fewer (2019) Higher executive abilities following a blood transfusion in children and young adults with sickle cell disease. Pediatric Blood & Cancer , 66 (10) , Article e27899. 10.1002/pbc.27899.

Hood, AM; Quinn, CT; King, CD; Shook, LM; Peugh, JL; Crosby, LE; (2020) Vitamin D Supplementation and Pain-Related Emergency Department Visits in Children with Sickle Cell Disease. Complementary Therapies in Medicine , 49 , Article 102342. 10.1016/j.ctim.2020.102342.

Hood, AM; Reife, I; King, AA; White, DA; (2020) Brief Screening Measures Identify Risk for Psychological Difficulties Among Children with Sickle Cell Disease. Journal of Clinical Psychology in Medical Settings , 27 pp. 651-661. 10.1007/s10880-019-09654-y.

Hood, AM; Strong, H; Nwankwo, C; Johnson, Y; Peugh, J; Mara, CA; Shook, LM; ... Crosby, LE; + view all Hood, AM; Strong, H; Nwankwo, C; Johnson, Y; Peugh, J; Mara, CA; Shook, LM; Brinkman, WB; Real, FJ; Klein, MD; Hackworth, R; Badawy, SM; Thompson, AA; Raphael, JL; Yates, AM; Smith-Whitley, K; King, AA; Calhoun, C; Creary, SE; Piccone, CM; Hildenbrand, AK; Reader, SK; Neumayr, L; Meier, ER; Sobota, AE; Rana, S; Britto, M; Saving, KL; Treadwell, M; Quinn, CT; Ware, RE; Crosby, LE; - view fewer (2021) Engaging Caregivers and Providers of Children With Sickle Cell Anemia in Shared Decision Making for Hydroxyurea: Protocol for a Multicenter Randomized Controlled Trial. JMIR Research Protocols , 10 (5) , Article e27650. 10.2196/27650.

Hood, Anna; (2018) Biological Interventions to Improve Cognition in Children with Sickle Cell Disease. Doctoral thesis (Ph.D), Washington University in St. Louis.

Horga, A; Tomaselli, PJ; Gonzalez, MA; Laurà, M; Muntoni, F; Manzur, AY; Hanna, MG; ... Reilly, MM; + view all Horga, A; Tomaselli, PJ; Gonzalez, MA; Laurà, M; Muntoni, F; Manzur, AY; Hanna, MG; Blake, JC; Houlden, H; Züchner, S; Reilly, MM; - view fewer (2016) SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology , 87 (15) pp. 1607-1612. 10.1212/WNL.0000000000003212.

Horner, AJ; Gadian, DG; Fuentemilla, L; Jentschke, S; Vargha-Khadem, F; Duzel, E; (2012) A rapid, hippocampus-dependent, item-memory signal that initiates context memory in humans. Current Biology , 22 (24) 2369 - 2374. 10.1016/j.cub.2012.10.055.

Horsfall, HL; Mohan, M; Devi, BI; Adeleye, AO; Shukla, DP; Bhat, D; Khan, M; ... Kolias, AG; + view all Horsfall, HL; Mohan, M; Devi, BI; Adeleye, AO; Shukla, DP; Bhat, D; Khan, M; Clark, DJ; Chari, A; Servadei, F; Khan, T; Rubiano, AM; Hutchinson, PJ; Kolias, AG; - view fewer (2019) Hinge/floating craniotomy as an alternative technique for cerebral decompression: a scoping review. Neurosurgical Review 10.1007/s10143-019-01180-7. (In press).

Hoskote, A; Burch, M; (2014) Peri-operative kidney injury and long-term chronic kidney disease following orthotopic heart transplantation in children. Pediatric Nephrology , 30 (6) pp. 905-918. 10.1007/s00467-014-2878-4.

Hoskote, A; Ridout, D; Banks, V; Kakat, S; Lakhanpaul, M; Pagel, C; Franklin, RC; ... Brown, K; + view all Hoskote, A; Ridout, D; Banks, V; Kakat, S; Lakhanpaul, M; Pagel, C; Franklin, RC; Witter, T; Lakhani, R; Tibby, SM; Anderson, D; Tsang, V; Wray, J; Brown, K; - view fewer (2020) Neurodevelopmental status and follow-up in preschool children with heart disease in London, UK. Archives of Disease in Childhood 10.1136/archdischild-2019-317824. (In press).

Hoskote, A; Wray, J; Banks, V; Brown, K; Lakhanpaul, M; (2020) A referral pathway for potentially abnormal neurodevelopment in children with heart disease in the United Kingdom: A Delphi consensus. BMJ Paediatrics Open , 4 (1) , Article e000587. 10.1136/bmjpo-2019-000587.

Howard, J; Inusa, B; Liossi, C; Jacob, E; Murphy, PB; Hart, N; Gavlak, J; ... Cheng, MY; + view all Howard, J; Inusa, B; Liossi, C; Jacob, E; Murphy, PB; Hart, N; Gavlak, J; Sahota, S; Chorozoglou, M; Nwosu, C; Gwam, M; Gupta, A; Rees, DC; Thein, SL; Reading, IC; Kirkham, FJ; Cheng, MY; - view fewer (2015) Prevention of Morbidity in sickle cell disease: qualitative outcomes, pain and quality of life in a randomised cross-over pilot trial of overnight supplementary oxygen and auto-adjusting continuous positive airways pressure (POMS2a): study protocol for a randomised controlled trial. Trials , 16 , Article 376. 10.1186/s13063-015-0883-y.

Howard, J; Lee, SA; Inusa, B; Cheng, MYE; Bavenjit, C; Reading, IC; Wakeford, SA; ... Liossi, C; + view all Howard, J; Lee, SA; Inusa, B; Cheng, MYE; Bavenjit, C; Reading, IC; Wakeford, SA; Gavlak, JC; Murphy, PB; Hart, N; Gupta, A; Sahota, S; Jacob, E; Chorozoglou, M; Ossai, C; Gwam, M; Kirkham, FJ; Wade, AM; Liossi, C; - view fewer (2019) Prevention of Morbidity in Sickle Cell Disease (POMS2a)-overnight auto-adjusting continuous positive airway pressure compared with nocturnal oxygen therapy: a randomised crossover pilot study examining patient preference and safety in adults and children. Trials , 20 (1) , Article 442. 10.1186/s13063-019-3461-x.

Howard, J; Slee, AE; Skene, S; Inusa, B; Kawadler, J; Downes, M; Gavlak, J; ... Liossi, C; + view all Howard, J; Slee, AE; Skene, S; Inusa, B; Kawadler, J; Downes, M; Gavlak, J; Koelbel, M; Stotesbury, H; Chorozoglou, M; Tebbs, S; Chakravorty, S; Awogbade, M; Rees, DC; Gupta, A; Murphy, PB; Hart, N; Sahota, S; Nwosu, C; Gwam, M; Saunders, D; Muthurangu, V; Barber, N; Ako, E; Thein, SL; Marshall, M; Reading, IC; Cheng, MYE; Kirkham, FJ; Liossi, C; - view fewer (2018) Overnight auto-adjusting continuous airway pressure + standard care compared with standard care alone in the prevention of morbidity in sickle cell disease phase II (POMS2b): study protocol for a randomised controlled trial. Trials , 19 (1) , Article 55. 10.1186/s13063-017-2419-0.

Howard, RF; Radic, T; Sohns, M; Eerdekens, M; Waßmuth, A; (2020) Tapentadol Prolonged Release for Long-Term Treatment of Pain in Children. Journal of Pain Research , 13 pp. 3157-3170. 10.2147/JPR.S272751.

Howell, KB; White, SM; McTague, A; D’Gama, AM; Costain, G; Poduri, A; Scheffer, IE; ... Scherer, SW; + view all Howell, KB; White, SM; McTague, A; D’Gama, AM; Costain, G; Poduri, A; Scheffer, IE; Chau, V; Smith, LD; Stephenson, SEM; Wojcik, M; Davidson, A; Sebire, N; Sliz, P; Beggs, AH; Chitty, LS; Cohn, RD; Marshall, CR; Andrews, NC; North, KN; Cross, JH; Christodoulou, J; Scherer, SW; - view fewer (2025) International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease. npj Genomic Medicine , 10 , Article 13. 10.1038/s41525-025-00474-8.

Huang, J; Howie, B; McCarthy, S; Memari, Y; Walter, K; Min, JL; Danecek, P; ... Soranzo, N; + view all Huang, J; Howie, B; McCarthy, S; Memari, Y; Walter, K; Min, JL; Danecek, P; Malerba, G; Trabetti, E; Zheng, H-F; Gambaro, G; Richards, JB; Durbin, R; Timpson, NJ; Marchini, J; Soranzo, N; - view fewer (2015) Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Communications , 6 (811) 10.1038/ncomms9111.

Huang, J; Mis, MA; Tanaka, B; Adi, T; Estacion, M; Liu, S; Walker, S; ... Waxman, SG; + view all Huang, J; Mis, MA; Tanaka, B; Adi, T; Estacion, M; Liu, S; Walker, S; Dib-Hajj, SD; Waxman, SG; - view fewer (2018) Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Na(v)1.7 mutation that massively hyperpolarizes activation. Scientific Reports , 8 , Article 1811. 10.1038/s41598-018-20221-7.

Hübschmann, OK; Horvath, G; Cortès-Saladelafont, E; Yildiz, Y; Mastrangelo, M; Pons, R; Friedman, J; ... Opladen, T; + view all Hübschmann, OK; Horvath, G; Cortès-Saladelafont, E; Yildiz, Y; Mastrangelo, M; Pons, R; Friedman, J; Mercimek-Andrews, S; Wong, S-N; Pearson, TS; Zafeiriou, D; Kulhánek, J; Kurian, MA; López-Laso, E; Oppebøen, M; Kilavuz, S; Wassenberg, T; Goez, H; Scholl-Bürgi, S; Porta, F; Honzík, T; Santer, R; Burlina, A; Sivri, HS; Leuzzi, V; Hoffmann, GF; Jeltsch, K; Hübschmann, D; Garbade, SF; García-Cazorla, A; Opladen, T; - view fewer (2021) Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. Nature Communications , 12 , Article 5529. 10.1038/s41467-021-25515-5.

Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; ... Sebire, NJ; + view all Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; Chitty, LS; Arthurs, OJ; Sebire, NJ; - view fewer (2019) Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure. Ultrasound in Obstetrics & Gynecology , 54 (5) pp. 661-669. 10.1002/uog.20211.

Hutchinson, JC; Ashworth, MT; Sebire, NJ; Arthurs, OJ; (2017) Multiple Cardiac Rhabdomyomas Visualised Using Micro-CT in a Case of Tuberous Sclerosis. Fetal Diagnosis and Therapy , 41 (2) 10.1159/000448708.

Hutchinson, JC; Kang, X; Shelmerdine, SC; Segers, V; Lombardi, CM; Cannie, MM; Sebire, NJ; ... Arthurs, OJ; + view all Hutchinson, JC; Kang, X; Shelmerdine, SC; Segers, V; Lombardi, CM; Cannie, MM; Sebire, NJ; Jani, JC; Arthurs, OJ; - view fewer (2018) Postmortem microfocus computed tomography for early gestation fetuses: a validation study against conventional autopsy. American Journal of Obstetrics and Gynecology , 218 (4) 10.1016/j.ajog.2018.01.040.

Hutchinson, JC; Shelmerdine, SC; Simcock, IC; Sebire, NJ; Arthurs, OJ; (2017) Early clinical applications for imaging at microscopic detail: microfocus computed tomography (micro-CT). British Journal of Radiology , 90 (1075) , Article 20170113. 10.1259/bjr.20170113.

Hutchinson, John Ciaran; (2019) Development of the minimally invasive paediatric & perinatal autopsy. Doctoral thesis (Ph.D), UCL (University College London).

Hutchinson, PJ; Edlmann, E; Bulters, D; Zolnourian, A; Holton, P; Suttner, N; Agyemang, K; ... Dex-CSDH Trial Collaborators, .; + view all Hutchinson, PJ; Edlmann, E; Bulters, D; Zolnourian, A; Holton, P; Suttner, N; Agyemang, K; Thomson, S; Anderson, IA; Al-Tamimi, YZ; Henderson, D; Whitfield, PC; Gherle, M; Brennan, PM; Allison, A; Thelin, EP; Tarantino, S; Pantaleo, B; Caldwell, K; Davis-Wilkie, C; Mee, H; Warburton, EA; Barton, G; Chari, A; Marcus, HJ; King, AT; Belli, A; Myint, PK; Wilkinson, I; Santarius, T; Turner, C; Bond, S; Kolias, AG; British Neurosurgical Trainee Research Collaborative, .; Dex-CSDH Trial Collaborators, .; - view fewer (2020) Trial of Dexamethasone for Chronic Subdural Hematoma. The New England Journal of Medicine , 383 (27) pp. 2616-2627. 10.1056/NEJMoa2020473.

Hyppönen, E; (2001) Growth and Nutrition in the Etiology of Type 1 diabetes. Doctoral thesis , UNSPECIFIED.

Hyppönen, E; (2000) Prenatal growth, socio-economic trajectory, and the risk of stroke later in life. Masters thesis , UNSPECIFIED.

Hyppönen, E; (1997) Lack of association between infant feeding and disease specific autoantibodies in siblings of children with IDDM. UNSPECIFIED thesis , UNSPECIFIED.

Hyppönen, E; (1996) Absorption of calcium and effect on fat excretion in young French men. (Kalsiumin imeytyminen maitotuotteista ja vaikutus rasvan eritykseen nuorilla ranskalaisilla miehillä, in Finnish). Masters thesis , UNSPECIFIED.

I

Idro, R; Gwer, S; Williams, TN; Otieno, T; Uyoga, S; Fegan, G; Kager, PA; ... Newton, CR; + view all Idro, R; Gwer, S; Williams, TN; Otieno, T; Uyoga, S; Fegan, G; Kager, PA; Maitland, K; Kirkham, F; Neville, BG; Newton, CR; - view fewer (2010) Iron deficiency and acute seizures: results from children living in rural Kenya and a meta-analysis. PLoS One , 5 (11) , Article e14001. 10.1371/journal.pone.0014001.

Iff, Joel; Done, Nicolae; Tuttle, Edward; Zhong, Yi; Wei, Fangzhou; Darras, Basil T; McDonald, Craig M; ... Muntoni, Francesco; + view all Iff, Joel; Done, Nicolae; Tuttle, Edward; Zhong, Yi; Wei, Fangzhou; Darras, Basil T; McDonald, Craig M; Mercuri, Eugenio; Muntoni, Francesco; - view fewer (2024) Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls. Muscle & Nerve 10.1002/mus.28075. (In press).

IJsselstijn, H; Breatnach, C; Hoskote, A; Greenough, A; Patel, N; Capolupo, I; Morini, F; ... CDH EURO Consortium Group; + view all IJsselstijn, H; Breatnach, C; Hoskote, A; Greenough, A; Patel, N; Capolupo, I; Morini, F; Scharbatke, H; Kipfmueller, F; Ertresvag, K; Kraemer, U; Braguglia, A; Wessel, L; van Heijst, AFJ; Moinichen, I; Emblem, R; Tibboel, D; CDH EURO Consortium Group; - view fewer (2018) Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium. Pediatric Research , 84 pp. 181-189. 10.1038/s41390-018-0063-3.

Illingworth, MA; Carr, LJ; Kurian, MA; Meyer, E; Chong, WK; Manzur, AY; Younis, R; ... Hayflick, SJ; + view all Illingworth, MA; Carr, LJ; Kurian, MA; Meyer, E; Chong, WK; Manzur, AY; Younis, R; Hardy, C; McDonald, F; Childs, AM; Stewart, B; Warren, D; Kneen, R; King, MD; Hayflick, SJ; - view fewer (2014) PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. Molecular Genetics and Metabolism , 112 (2) 183 - 189. 10.1016/j.ymgme.2014.03.008.

Ingram, G; Barwick, KE; Hartley, L; McEntagart, M; Crosby, AH; Llewelyn, G; Morris, HR; (2016) Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. Practical Neurology , 16 (3) pp. 247-251. 10.1136/practneurol-2015-001307.

Iro, Mildred A; Sadarangani, Manish; Absoud, Michael; Cantrell, Liberty; Chong, Wui K; Clark, Christopher; Easton, Ava; ... IgNiTE Study Team; + view all Iro, Mildred A; Sadarangani, Manish; Absoud, Michael; Cantrell, Liberty; Chong, Wui K; Clark, Christopher; Easton, Ava; Gray, Victoria; Hill, Matilda; Kneen, Rachel; Lim, Ming; Liu, Xinxue; Pike, Mike; Solomon, Tom; Vincent, Angela; Willis, Louise; Yu, Ly-Mee; Pollard, Andrew J; IgNiTE Study Team; - view fewer (2024) Intravenous immunoglobulin treatment for encephalitis in children aged 6 months to 16 years: the IgNiTE RCT. Efficacy and Mechanism Evaluation , 11 (6) 10.3310/yjwq4299.

Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; ... Revel-Vilk, S; + view all Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, H; van Essen, A; van Ravenswaaij-Arts, C; Aitman, T; Bennett, D; Caulfield, M; Chinnery, P; Gale, D; Koziell, A; Kuijpers, TW; Laffan, MA; Maher, E; Markus, HS; Morrell, NW; Ouwehand, WH; Perry, DJ; Raymond, FL; Roberts, I; Smith, KGC; Thrasher, A; Watkins, H; Williamson, C; Woods, G; Ashford, S; Bradley, JR; Fletcher, D; Hammerton, T; James, R; Kingston, N; Penkett, CJ; Stirrups, K; Veltman, M; Young, T; Brown, M; Clements-Brod, N; Davis, J; Dewhurst, E; Dolling, H; Erwood, M; Frary, A; Linger, R; Martin, JM; Papadia, S; Rehnstrom, K; Stark, H; Allsup, D; Austin, S; Bakchoul, T; Bariana, TK; Bolton-Maggs, P; Chalmers, E; Collins, J; Collins, P; Erber, WN; Everington, T; Favier, R; Freson, K; Furie, B; Gattens, M; Gebhart, J; Gomez, K; Greene, D; Greinacher, A; Gresele, P; Hart, D; Heemskerk, JWM; Henskens, Y; Kazmi, R; Keeling, D; Kelly, AM; Lambert, MP; Lentaigne, C; Liesner, R; Makris, M; Mangles, S; Mathias, M; Millar, CM; Mumford, A; Nurden, P; Payne, J; Pasi, J; Peerlinck, K; Revel-Vilk, S; - view fewer (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics , 103 (1) pp. 144-153. 10.1016/j.ajhg.2018.06.001.

J

Jacob, Mboka; Kawadler, Jamie M; Murdoch, Russell; Ahmed, Magda; Tutuba, Hilda; Masamu, Upendo; Shmueli, Karin; ... Kirkham, Fenella J; + view all Jacob, Mboka; Kawadler, Jamie M; Murdoch, Russell; Ahmed, Magda; Tutuba, Hilda; Masamu, Upendo; Shmueli, Karin; Saunders, Dawn E; Clark, Chris A; Kim, Jinna; Hamdule, Shifa; Makani, Julie; Stotesbury, Hanne; Kirkham, Fenella J; - view fewer (2022) Brain volume in Tanzanian children with sickle cell anaemia: A neuroimaging study. British Journal of Haematology 10.1111/bjh.18503. (In press).

Jacob, Mboka; Stotesbury, Hanne; Kija, Edward; Saunders, Dawn; Mtei, Rachel J; Tutuba, Hilda; Masanu, Upendo; ... Makani, Julie; + view all Jacob, Mboka; Stotesbury, Hanne; Kija, Edward; Saunders, Dawn; Mtei, Rachel J; Tutuba, Hilda; Masanu, Upendo; Kilonzo, Mrema; Kazema, Ramadhan; Hood, Anna M; Kirkham, Fenella; Dimitriou, Dagmara; Makani, Julie; - view fewer (2022) Effect of age, cerebral infarcts, vasculopathy and haemoglobin on cognitive function, in Tanzanian children with sickle cell anaemia. European Journal of Paediatric Neurology , 37 pp. 105-113. 10.1016/j.ejpn.2022.01.010.

Jacob, M; Saunders, DE; Kawadler, JM; Mussa, B; Murdoch, R; Lapidaire, W; Tluway, F; ... Kirkham, FJ; + view all Jacob, M; Saunders, DE; Kawadler, JM; Mussa, B; Murdoch, R; Lapidaire, W; Tluway, F; Kazema, RR; Nkya, S; Ahmed, M; Kija, E; Fundikira, L; Kussaga, F; Darekar, A; Tutuba, H; Shmueli, K; Clark, CA; Makani, J; Kirkham, FJ; - view fewer (2018) Neuroimaging in patients with sickle cell anemia: capacity building in Africa. Blood Advances , 2 (Suppl 1) pp. 26-29. 10.1182/bloodadvances.2018GS112714.

Jacob, M; Saunders, DE; Sangeda, RZ; Ahmed, M; Tutuba, H; Kussaga, F; Musa, B; ... Kirkham, FJ; + view all Jacob, M; Saunders, DE; Sangeda, RZ; Ahmed, M; Tutuba, H; Kussaga, F; Musa, B; Mmbando, B; Slee, AE; Kawadler, JM; Makani, J; Kirkham, FJ; - view fewer (2019) Cerebral Infarcts and Vasculopathy in Tanzanian Children With Sickle Cell Anemia. Pediatric Neurology 10.1016/j.pediatrneurol.2019.12.008. (In press).

Jacob, M; Stotesbury, H; Kawadler, JM; Lapadaire, W; Saunders, DE; Sangeda, RZ; Chamba, C; ... Clark, CA; + view all Jacob, M; Stotesbury, H; Kawadler, JM; Lapadaire, W; Saunders, DE; Sangeda, RZ; Chamba, C; Kazema, R; Makani, J; Kirkham, FJ; Clark, CA; - view fewer (2020) White Matter Integrity in Tanzanian Children With Sickle Cell Anemia: A Diffusion Tensor Imaging Study. Stroke 10.1161/STROKEAHA.119.027097. (In press).

Jaffer, F; Avbersek, A; Vavassori, R; Fons, C; Campistol, J; Stagnaro, M; De Grandis, E; ... Sisodiya, SM; + view all Jaffer, F; Avbersek, A; Vavassori, R; Fons, C; Campistol, J; Stagnaro, M; De Grandis, E; Veneselli, E; Rosewich, H; Gianotta, M; Zucca, C; Ragona, F; Granata, T; Nardocci, N; Mikati, M; Helseth, AR; Boelman, C; Minassian, BA; Johns, S; Garry, SI; Scheffer, IE; Gourfinkel-An, I; Carrilho, I; Aylett, SE; Parton, M; Hanna, MG; Houlden, H; Neville, B; Kurian, MA; Novy, J; Sander, JW; Lambiase, PD; Behr, ER; Schyns, T; Arzimanoglou, A; Cross, JH; Kaski, JP; Sisodiya, SM; - view fewer (2015) Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Brain , 138 (10) pp. 2859-2874. 10.1093/brain/awv243.

Jain, Dipty; Kirkham, Fenella J; (2023) Laboratory Associations With Transcranial Doppler Categories in Sickle Cell Disease. Indian Pediatrics , 60 (8) pp. 622-623. 10.1007/s13312-023-2957-3.

Jain, D; Ganesan, K; Sahota, S; Darbari, DS; Krishnamurti, L; Kirkham, FJ; (2019) Transcranial Doppler Screening in Children with Sickle Cell Anemia Is Feasible in Central India and Reveals High Risk of Stroke. Presented at: 61st ASH Annual Meeting, Orlando (FL), USA.

Jamieson, Liz; Harrop, Emily; Liossi, Christina; Boyce, Katherine; Mitchell, Lorraine; Johnson, Margaret; Jani, Yogini; ... Oulton, Kate; + view all Jamieson, Liz; Harrop, Emily; Liossi, Christina; Boyce, Katherine; Mitchell, Lorraine; Johnson, Margaret; Jani, Yogini; Akinyooye, Victoria; Skene, Simon S; Wong, Ian CK; Howard, Richard F; Oulton, Kate; - view fewer (2022) Carer preferences of route of administration of transmucosal diamorphine and willingness to take part in a randomised controlled trial: an interview study (DIPPER). BMC Palliative Care , 21 , Article 78. 10.1186/s12904-022-00951-2.

Jamieson, L; Harrop, E; Johnson, M; Liossi, C; Mott, C; Oulton, K; Skene, SS; ... Howard, RF; + view all Jamieson, L; Harrop, E; Johnson, M; Liossi, C; Mott, C; Oulton, K; Skene, SS; Wong, IC; Howard, RF; - view fewer (2021) Healthcare professionals' views of the use of oral morphine and transmucosal diamorphine in the management of paediatric breakthrough pain and the feasibility of a randomised controlled trial: A focus group study (DIPPER). Palliative Medicine 10.1177/02692163211008737. (In press).

Janackova, S; Boyd, S; Yozawitz, E; Tsuchida, T; Lamblin, M-D; Gueden, S; Pressler, R; (2016) Electroencephalographic characteristics of epileptic seizures in preterm neonates. Clinical Neurophysiology , 127 (8) pp. 2721-2727. 10.1016/j.clinph.2016.05.006.

Janghra, N; Morgan, JE; Sewry, CA; Wilson, FX; Davies, KE; Muntoni, F; Tinsley, J; (2016) Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. PLoS One , 11 (3) , Article e0150818. 10.1371/journal.pone.0150818.

Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; ... Trollmann, R; + view all Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Shinohara, N; Horie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, Y; Zou, L; Xu, K; Zhang, Y; Luan, G; Zhang, Y; Wang, Y; Jin, M; Ye, D; Liao, W; Zhou, L; Liu, J; Liao, J; Yan, B; Deng, Y; Jiang, L; Liu, Z; Huang, S; Li, H; Kim, K; Chen, P-L; Lee, H-F; Tsai, J-D; Chi, C-S; Huang, C-C; Riney, K; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, A; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatzonis, S; Pavlou, E; Tzoufi, M; Vergeer, AMH; Dhooghe, M; Verhelst, H; Roelens, F; Nassogne, MC; Defresne, P; De Waele, L; Leroy, P; Demonceau, N; Legros, B; Van Bogaert, P; Ceulemans, B; Dom, L; Castelnau, P; Martin, ADS; Riquet, A; Milh, M; Cances, C; Pedespan, J-M; Ville, D; Roubertie, A; Auvin, S; Berquin, P; Richelme, C; Allaire, C; Gueden, S; Sylvie, NTT; Godet, B; Falco Rojas, MLR; Campistol Planas, J; Martinez Bermejo, A; Smeyers Dura, P; Roldan Aparicio, S; Martinez Gonzalez, MJ; Lopez Pison, J; Blanco Barca, MO; Lopez Laso, E; Alonso Luengo, O; Aguirre Rodriguez, FJ; Malaga Dieguez, I; Camacho Salas, A; Marti Carrera, I; Martinez Salcedo, E; Yoldi Petri, ME; Cancho Candela, R; Carrilho, IDC; Vieira, JP; da Silva Oliveira Monteiro, JP; de Oliveira Ferreira Leao, MJS; Marceano Ribeiro Luis, CS; Mendonca, CP; Endziniene, M; Strautmanis, J; Talvik, I; Canevini, MP; Gambardella, A; Pruna, D; Buono, S; Fontana, E; Dalla Bernardina, B; Burloiu, C; Cosma, ISB; Vintan, MA; Popescu, L; Zitterbart, K; Payerova, J; Bratsky, L; Zilinska, Z; Gruber-Sedlmayr, U; Baumann, M; Haberlandt, E; Rostasy, K; Pataraia, E; Elmslie, F; Johnston, CA; Crawford, P; Uldall, P; Dahlin, M; Uvebrant, P; Rask, O; Bjoernvold, M; Brodtkorb, E; Sloerdahl, A; Solhoff, R; Jaatun, MSG; Mandera, M; Radzikowska, EJ; Wysocki, M; Fischereder, M; Kurlemann, G; Wilken, B; Wiemer-Kruel, A; Budde, K; Marquard, K; Knuf, M; Hahn, A; Hartmann, H; Merkenschlager, A; Trollmann, R; - view fewer (2019) Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. Frontiers in Neurology , 10 , Article 821. 10.3389/fneur.2019.00821.

Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Trollmann, R; + view all Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Shinohara, N; Horie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, Y; Zou, L; Xu, K; Zhang, Y; Luan, G; Zhang, Y; Wang, Y; Jin, M; Ye, D; Liao, W; Zhou, L; Liu, J; Liao, J; Yan, B; Deng, Y; Jiang, L; Liu, Z; Huang, S; Li, H; Kim, K; Chen, P-L; Lee, H-F; Tsai, J-D; Chi, C-S; Huang, C-C; Riney, K; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, A; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatz, S; Pavlou, E; Tzoufi, M; Vergeer, AMH; Dhooghe, M; Verhelst, H; Roelens, F; Nassogne, MC; Defresne, P; De Waele, L; Leroy, P; Demonceau, N; Legros, B; Van Bogaert, P; Ceulemans, B; Dom, L; Castelnau, P; Martin, ADS; Riquet, A; Milh, M; Cances, C; Pedespan, J-M; Ville, D; Roubertie, A; Auvin, S; Berquin, P; Richelme, C; Allaire, C; Gueden, S; Tich, SNT; Godet, B; Rojas, MLRF; Planas, JC; Bermejo, AM; Dura, PS; Aparicio, SR; Gonzalez, MJM; Pison, JL; Barca, MOB; Laso, EL; Luengo, OA; Rodriguez, FJA; Dieguez, IM; Salas, AC; Carrera, IM; Salcedo, EM; Petri, MEY; Candela, RC; Carrilho, IDC; Vieira, JP; Monteiro, JPDSO; Leao, MJSDOF; Luis, CSMR; Mendonca, CP; Endziniene, M; Strautmanis, J; Talvik, I; Canevini, MP; Gambardella, A; Pruna, D; Buono, S; Fontana, E; Dalla Bernardina, B; Burloiu, C; Cosma, ISB; Vintan, MA; Popescu, L; Zitterbart, K; Payerova, J; Bratsky, L; Zilinska, Z; Gruber-Sedlmayr, U; Baumann, M; Haberland, E; Rostasy, K; Pataraia, E; Elmslie, F; Johnston, CA; Crawford, P; Uldall, P; Uvebrant, P; Rask, O; Bjoernvold, M; Brodtkorb, E; Sloerdahl, A; Solhoff, R; Jaatun, MSG; Mandera, M; Radzikowska, EJ; Wysocki, M; Fischereder, M; Kurlemann, G; Wilken, B; Wiemer-Kruel, A; Budde, K; Marquard, K; Knuf, M; Hahn, A; Hartmann, H; Merkenschlager, A; Trollmann, R; - view fewer (2019) Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. Frontiers in Neurology , 10 , Article 705. 10.3389/fneur.2019.00705.

Jansen, AC; Vanclooster, S; de Vries, PJ; Fladrowski, C; Beaure d'Augères, G; Carter, T; Belousova, E; ... Roelens, F; + view all Jansen, AC; Vanclooster, S; de Vries, PJ; Fladrowski, C; Beaure d'Augères, G; Carter, T; Belousova, E; Benedik, MP; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; Ferreira, JC; Feucht, M; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Shinohara, N; Horie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, Y; Zou, L; Xu, K; Zhang, Y; Luan, G; Zhang, Y; Wang, Y; Jin, M; Ye, D; Ye, D; Zhou, L; Liu, J; Liao, J; YAN, B; Deng, Y; Jiang, L; Liu, Z; Huang, S; Li, H; Kim, K; Chen, PL; Lee, HF; Tsai, JD; Chi, CS; Huang, CC; Riney, K; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, T; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatzonis, S; Pavlou, E; Tzoufi, M; Vergeer, AMH; Dhooghe, M; Verhelst, H; Roelens, F; - view fewer (2020) Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study. Frontiers in Neurology , 11 10.3389/fneur.2020.00904.

Jay, M; Thomas, B; Nandi, R; Howard, RF; (2018) On the Difficulties of Studying Pain Management in Individuals with Developmental Delay. [Letter]. Pain Medicine , 19 (7) pp. 1503-1504. 10.1093/pm/pny011.

Jay, M; Thomas, BM; Nandi, R; Howard, RF; (2017) Higher risk of opioid-induced respiratory depression in children with neurodevelopmental disability: a retrospective cohort study of 12,904 patients. British Journal of Anaesthesia , 118 (2) pp. 239-246. 10.1093/bja/aew403.

Jayakar, P; Jayakar, A; Libenson, M; Arzimanoglou, A; Rydenhag, B; Cross, JH; Bhatia, S; ... Gaillard, WD; + view all Jayakar, P; Jayakar, A; Libenson, M; Arzimanoglou, A; Rydenhag, B; Cross, JH; Bhatia, S; Tassi, L; Lachhwani, D; Gaillard, WD; - view fewer (2018) Epilepsy surgery near or in eloquent cortex in children—Practice patterns and recommendations for minimizing and reporting deficits. Epilepsia , 59 (8) pp. 1484-1491. 10.1111/epi.14510.

Jehi, Lara; Jette, Nathalie; Kwon, Churl-Su; Josephson, Colin B; Burneo, Jorge G; Cendes, Fernando; Sperling, Michael R; ... Wiebe, Samuel; + view all Jehi, Lara; Jette, Nathalie; Kwon, Churl-Su; Josephson, Colin B; Burneo, Jorge G; Cendes, Fernando; Sperling, Michael R; Baxendale, Sallie; Busch, Robyn M; Triki, Chahnez Charfi; Cross, J Helen; Ekstein, Dana; Englot, Dario J; Luan, Guoming; Palmini, Andre; Rios, Loreto; Wang, Xiongfei; Roessler, Karl; Rydenhag, Bertil; Ramantani, Georgia; Schuele, Stephan; Wilmshurst, Jo M; Wilson, Sarah; Wiebe, Samuel; - view fewer (2022) Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against Epilepsy. Epilepsia , 63 (10) pp. 2491-2506. 10.1111/epi.17350.

Jethwa, S; Pressler, RM; Kaya, D; Datta, AN; (2022) Sleep architecture in neonatal and infantile onset epilepsies in the first six months of life: A scoping review. European Journal of Paediatric Neurology , 41 pp. 99-108. 10.1016/j.ejpn.2022.11.004.

Jiang, Yunsong; Torun, Tugce; Maffioletti, Sara M; Serio, Andrea; Tedesco, Francesco Saverio; (2022) Bioengineering human skeletal muscle models: Recent advances, current challenges and future perspectives. Experimental Cell Research , 416 (2) , Article 113133. 10.1016/j.yexcr.2022.113133.

Jiang, B; Hills, NK; Forsyth, R; Jordan, LC; Slim, M; Pavlakis, SG; Freidman, N; ... VIPS Investigators; + view all Jiang, B; Hills, NK; Forsyth, R; Jordan, LC; Slim, M; Pavlakis, SG; Freidman, N; Dlamini, N; Farooq, O; Li, Y; Zhu, G; Fullerton, H; Wintermark, M; Lo, WD; VIPS Investigators; - view fewer (2021) Imaging Predictors of Neurologic Outcome After Pediatric Arterial Ischemic Stroke. Stroke , 52 (1) pp. 152-161. 10.1161/STROKEAHA.120.030965.

Jin, B; Krishnan, B; Adler, S; Wagstyl, K; Hu, W; Jones, S; Najm, I; ... Wang, ZI; + view all Jin, B; Krishnan, B; Adler, S; Wagstyl, K; Hu, W; Jones, S; Najm, I; Alexopoulos, A; Zhang, K; Zhang, J; Ding, M; Wang, S; Wang, ZI; - view fewer (2018) Automated detection of focal cortical dysplasia type II with surface-based magnetic resonance imaging postprocessing and machine learning. Epilepsia , 59 (5) pp. 982-992. 10.1111/epi.14064.

Johannesen, KM; Iqbal, S; Guazzi, M; Mohammadi, NA; Pérez-Palma, E; Schaefer, E; De Saint Martin, A; ... Gardella, E; + view all Johannesen, KM; Iqbal, S; Guazzi, M; Mohammadi, NA; Pérez-Palma, E; Schaefer, E; De Saint Martin, A; Abiwarde, MT; McTague, A; Pons, R; Piton, A; Kurian, MA; Ambegaonkar, G; Firth, H; Sanchis-Juan, A; Deprez, M; Jansen, K; De Waele, L; Briltra, EH; Verbeek, NE; van Kempen, M; Fazeli, W; Striano, P; Zara, F; Visser, G; Braakman, HMH; Haeusler, M; Elbracht, M; Vaher, U; Smol, T; Lemke, JR; Platzer, K; Kennedy, J; Klein, KM; Au, PYB; Smyth, K; Kaplan, J; Thomas, M; Dewenter, MK; Dinopoulos, A; Campbell, AJ; Lal, D; Lederer, D; Liao, VWY; Ahring, PK; Møller, RS; Gardella, E; - view fewer (2022) Structural mapping of GABRB3 variants reveals genotype–phenotype correlations. Genetics in Medicine , 24 (3) pp. 681-693. 10.1016/j.gim.2021.11.004.

Johnson, EC; Atkinson, P; Muggeridge, A; Cross, JH; Reilly, C; (2021) Epilepsy in schools: Views on educational and therapeutic provision, understanding of epilepsy and seizure management. Epilepsy & Behavior , 122 , Article 108179. 10.1016/j.yebeh.2021.108179.

Johnson, Emma; Atkinson, Patricia; Muggeridge, Amy; Cross, J Helen; Reilly, Colin; (2022) Impact of epilepsy on learning and behaviour and needed supports: Views of children, parents and school staff. European Journal of Paediatric Neurology , 40 pp. 61-68. 10.1016/j.ejpn.2022.08.001.

Johnson, Emma; Atkinson, Patricia; Muggeridge, Amy; Cross, J Helen; Reilly, Colin; (2021) Inclusion and participation of children with epilepsy in schools: Views of young people, school staff and parents. Seizure , 93 pp. 34-43. 10.1016/j.seizure.2021.10.007.

Johnson, Emma C; Atkinson, Patricia; Muggeridge, Amy; Chan, Samantha; Helen Cross, J; Reilly, Colin; (2023) Perceived impact of epilepsy on sleep: Views of children with epilepsy, parents and school staff. Epilepsy and Behavior , 138 , Article 109026. 10.1016/j.yebeh.2022.109026.

Johnson, S; Nolan, F; Pilling, S; Sandor, A; Hoult, J; McKenzie, N; White, IR; ... Bebbington, P; + view all Johnson, S; Nolan, F; Pilling, S; Sandor, A; Hoult, J; McKenzie, N; White, IR; Thompson, M; Bebbington, P; - view fewer (2005) Randomised controlled trial of acute mental health care by a crisis resolution team: the north Islington crisis study. BRITISH MEDICAL JOURNAL , 331 (7517) pp. 599-602. 10.1136/bmj.38519.678148.8F.

Johnson, EC; Helen Cross, J; Reilly, C; (2020) Physical activity in people with epilepsy: A systematic review. Epilepsia , 61 (6) pp. 1062-1081. 10.1111/epi.16517.

Johnson, MH; Griffin, R; Csibra, G; Halit, H; Farroni, T; De Haan, M; Tucker, LA; ... Richards, J; + view all Johnson, MH; Griffin, R; Csibra, G; Halit, H; Farroni, T; De Haan, M; Tucker, LA; Baron-Cohen, S; Richards, J; - view fewer (2005) The emergence of the social brain network: Evidence from typical and atypical development. DEV PSYCHOPATHOL , 17 (3) 599 - 619. 10.1017/S0954579405050297.

Jones, Laura; Verriotis, Madeleine; Cooper, Robert J; Laudiano-Dray, Maria Pureza; Rupawala, Mohammed; Meek, Judith; Fabrizi, Lorenzo; Jones, Laura; Verriotis, Madeleine; Cooper, Robert J; Laudiano-Dray, Maria Pureza; Rupawala, Mohammed; Meek, Judith; Fabrizi, Lorenzo; Fitzgerald, Maria; - view fewer (2022) Widespread nociceptive maps in the human neonatal somatosensory cortex. eLife , 11 10.7554/eLife.71655. (In press).

Jones, C; Atkinson, P; Cross, JH; Reilly, C; (2018) Knowledge of and attitudes towards epilepsy among teachers: A systematic review. Epilepsy & Behavior , 87 pp. 59-68. 10.1016/j.yebeh.2018.06.044.

Jones, C; Atkinson, P; Memon, A; Dabydeen, L; Das, KB; Cross, JH; Gillberg, C; ... Reilly, C; + view all Jones, C; Atkinson, P; Memon, A; Dabydeen, L; Das, KB; Cross, JH; Gillberg, C; Neville, BGR; Scott, RC; Reilly, C; - view fewer (2019) Experiences and needs of parents of young children with active epilepsy: A population-based study. Epilepsy & Behavior , 90 pp. 37-44. 10.1016/j.yebeh.2018.10.031.

Jones, HF; Morales-Briceño, H; Barwick, K; Lewis, J; Sanchis-Juan, A; Raymond, FL; Stewart, K; ... Mohammad, SS; + view all Jones, HF; Morales-Briceño, H; Barwick, K; Lewis, J; Sanchis-Juan, A; Raymond, FL; Stewart, K; Waugh, M-C; Mahant, N; Kurian, MA; Dale, RC; Mohammad, SS; - view fewer (2019) Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. [Letter]. Movement Disorders 10.1002/mds.27708. (In press).

Jones, L; Fabrizi, L; Laudiano-Dray, M; Whitehead, K; Meek, J; Verriotis, M; Fitzgerald, M; (2017) Nociceptive Cortical Activity Is Dissociated from Nociceptive Behavior in Newborn Human Infants under Stress. Curr Biol 10.1016/j.cub.2017.10.063. (In press).

Jones, L; Laudiano-Dray, MP; Whitehead, K; Verriotis, M; Meek, J; Fitzgerald, M; Fabrizi, L; (2018) EEG, behavioural and physiological recordings following a painful procedure in human neonates. Scientific Data , 5 , Article 180248. 10.1038/sdata.2018.248.

Jones, M; Darwall, D; Khalid, G; Prabhu, R; Kemp, A; Arthurs, OJ; Theobald, P; (2017) Development and validation of a physical model to investigate the biomechanics of infant head impact. Forensic Science International , 276 pp. 111-119. 10.1016/j.forsciint.2017.03.025.

Jones, S; Moreland, NJ; Zancolli, M; Raynes, J; Loh, JMS; Smeesters, PR; Sriskandan, S; ... Goldblatt, D; + view all Jones, S; Moreland, NJ; Zancolli, M; Raynes, J; Loh, JMS; Smeesters, PR; Sriskandan, S; Carapetis, JR; Fraser, JD; Goldblatt, D; - view fewer (2018) Development of an Opsonophagocytic Killing Assay for Group A Streptococcus. Vaccine , 36 (26) pp. 3756-3763. 10.1016/j.vaccine.2018.05.056.

Jones, V; Wykes, V; Cohen, N; Thompson, D; Jacques, TS; (2018) The Pathology of Lumbosacral Lipomas: Macroscopic and Microscopic Disparity Have Implications for Embryogenesis and Mode of Clinical Deterioration. Histopathology , 72 (7) pp. 1136-1144. 10.1111/his.13469.

Jordan, LC; Williams, DOR; Rodeghier, MJ; Covert, B; Ponisio, MR; Casella, JF; McKinstry, RC; ... DeBaun, MR; + view all Jordan, LC; Williams, DOR; Rodeghier, MJ; Covert, B; Ponisio, MR; Casella, JF; McKinstry, RC; Noetzel, MJ; Kirkham, FJ; Meier, ER; Fuh, B; McNaull, M; Sarnaik, S; Majumdar, S; McCavit, TL; DeBaun, MR; - view fewer (2018) Children with sickle cell anemia with normal TCD and without silent infarcts have a low incidence of new strokes. American Journal of Hematology , 93 (6) pp. 760-768. 10.1002/ajh.25085.

Joshi, C; Nickels, K; Demarest, S; Eltze, C; Cross, JH; Wirrell, E; (2021) Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome. Seizure , 85 pp. 12-18. 10.1016/j.seizure.2020.11.017.

Joubert, R; Mariot, V; Charpentier, M; Concordet, JP; Dumonceaux, J; (2020) Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD? Journal of Personalized Medicine , 11 (1) , Article 7. 10.3390/jpm11010007.

Joubert, R; Mariot, V; Dumonceaux, J; (2020) A one-hour universal protocol for mouse genotyping. Muscle and Nerve , 61 (6) pp. 801-807. 10.1002/mus.26841.

Jung, J; Tailor, J; Dalton, E; Glancz, LJ; Roach, J; Zakaria, R; Lammy, S; ... British National Trainee Research Collaborative (BNTRC); + view all Jung, J; Tailor, J; Dalton, E; Glancz, LJ; Roach, J; Zakaria, R; Lammy, S; Chari, A; Budohoski, KP; Livermore, LJ; Yu, K; Jenkinson, MD; Brennan, PM; Brazil, L; Bunce, C; Bourmpaki, E; Ashkan, K; Vergani, F; British National Trainee Research Collaborative (BNTRC); - view fewer (2020) Management evaluation of metastasis in the brain (MEMBRAIN)—a United Kingdom and Ireland prospective, multicenter observational study. Neuro-Oncology Practice , 7 (3) pp. 344-355. 10.1093/nop/npz063.

Jungbluth, H; Dowling, JJ; Ferreiro, A; Muntoni, F; (2016) 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016. Neuromuscular Disorders , 26 (9) pp. 624-633. 10.1016/j.nmd.2016.06.001.

Jungbluth, H; Muntoni, F; (2019) Therapeutic Aspects in Congenital Myopathies. Seminars in Pediatric Neurology , 29 pp. 71-82. 10.1016/j.spen.2019.01.004.

Jungbluth, H; Treves, S; Zorzato, F; Sarkozy, A; Ochala, J; Sewry, C; Phadke, R; ... Muntoni, F; + view all Jungbluth, H; Treves, S; Zorzato, F; Sarkozy, A; Ochala, J; Sewry, C; Phadke, R; Gautel, M; Muntoni, F; - view fewer (2018) Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. [Review]. Nature Reviews Neurology , 14 (3) pp. 151-167. 10.1038/nrneurol.2017.191.

Juttukonda, Meher R; Vaclavu, Lena; Kirkham, Fenella J; Fields, Melanie E; Bush, Adam M; (2022) Editorial: Cerebral oxygen supply and demand in sickle cell disease: Evidence of local ischemia despite global hyperemia. Frontiers in Physiology , 13 , Article 1079889. 10.3389/fphys.2022.1079889.

K

Kaden, E; Gyori, NG; Rudrapatna, SU; Barskaya, IY; Dragonu, I; Does, MD; Jones, DK; ... Alexander, DC; + view all Kaden, E; Gyori, NG; Rudrapatna, SU; Barskaya, IY; Dragonu, I; Does, MD; Jones, DK; Clark, CA; Alexander, DC; - view fewer (2020) Microscopic susceptibility anisotropy imaging. Magnetic Resonance in Medicine 10.1002/mrm.28303. (In press).

Kadirvelu, Balasundaram; Gavriel, Constantinos; Nageshwaran, Sathiji; Chan, Jackson Ping Kei; Nethisinghe, Suran; Athanasopoulos, Stavros; Ricotti, Valeria; ... Faisal, A Aldo; + view all Kadirvelu, Balasundaram; Gavriel, Constantinos; Nageshwaran, Sathiji; Chan, Jackson Ping Kei; Nethisinghe, Suran; Athanasopoulos, Stavros; Ricotti, Valeria; Voit, Thomas; Giunti, Paola; Festenstein, Richard; Faisal, A Aldo; - view fewer (2023) A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia. Nature Medicine , 29 (1) pp. 86-94. 10.1038/s41591-022-02159-6.

Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; ... Maroofian, Reza; + view all Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier‐Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza; - view fewer (2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology 10.1002/acn3.51633. (In press).

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; ... Maroofian, Reza; + view all Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Ghayoor Karimiani, Ehsan; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Akay Tayfun, Gulsen; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Bahrami Monajemi, Gholamreza; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Hameed Issa, Awatif; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza; - view fewer (2023) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain 10.1093/brain/awad380. (In press).

Kalra, S; Montanaro, F; Denning, C; (2016) Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? Journal of Neuromuscular Diseases , 3 (3) pp. 309-332. 10.3233/JND-150133.

Kalser, J; Cross, JH; (2018) The epileptic encephalopathy jungle – from Dr West to the concepts of aetiology-related and developmental encephalopathies. Current Opinion in Neurology , 31 (2) pp. 216-222. 10.1097/WCO.0000000000000535.

Kanber, B; Morrow, JM; Klickovic, U; Wastling, S; Shah, S; Fratta, P; McDowell, AR; ... Thornton, JS; + view all Kanber, B; Morrow, JM; Klickovic, U; Wastling, S; Shah, S; Fratta, P; McDowell, AR; Hall, MG; Clark, CA; Muntoni, F; Reilly, MM; Hanna, MG; Alexander, DC; Yousry, T; Thornton, JS; - view fewer (2021) Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases. Neuroinformatics , 19 pp. 379-383. 10.1007/s12021-020-09485-5.

Kane, N; Acharya, J; Benickzy, S; Caboclo, L; Finnigan, S; Kaplan, PW; Shibasaki, H; ... van Putten, MJAM; + view all Kane, N; Acharya, J; Benickzy, S; Caboclo, L; Finnigan, S; Kaplan, PW; Shibasaki, H; Pressler, R; van Putten, MJAM; - view fewer (2017) A revised glossary of terms most commonly used by clinical electroencephalographers and updated proposal for the report format of the EEG findings. Revision 2017. Clinical Neurophysiology Practice , 2 pp. 170-185. 10.1016/j.cnp.2017.07.002.

Kang, X; Cannie, MM; Arthurs, OJ; Segers, V; Fourneau, C; Bevilacqua, E; Cos Sanchez, T; ... Jani, JC; + view all Kang, X; Cannie, MM; Arthurs, OJ; Segers, V; Fourneau, C; Bevilacqua, E; Cos Sanchez, T; Sebire, NJ; Jani, JC; - view fewer (2017) Post-mortem whole-body magnetic resonance imaging of human fetuses: a comparison of 3-T vs. 1.5-T MR imaging with classical autopsy. European Radiology , 27 (8) pp. 3542-3553. 10.1007/s00330-016-4725-4.

Kang, X; Cos Sanchez, T; Arthurs, OJ; Bevilacqua, E; Cannie, MM; Segers, V; Lecomte, S; ... Jani, JC; + view all Kang, X; Cos Sanchez, T; Arthurs, OJ; Bevilacqua, E; Cannie, MM; Segers, V; Lecomte, S; Sebire, NJ; Jani, JC; - view fewer (2019) Postmortem fetal imaging: prospective blinded comparison of two‐dimensional ultrasound with magnetic resonance imaging. Ultrasound in Obstetrics & Gynaecology , 54 (6) pp. 791-799. 10.1002/uog.20217.

Kang, X; Shelmerdine, SC; Hurtado, I; Bevilacqua, E; Hutchinson, C; Mandalia, U; Segers, V; ... Jani, JC; + view all Kang, X; Shelmerdine, SC; Hurtado, I; Bevilacqua, E; Hutchinson, C; Mandalia, U; Segers, V; Cos Sanchez, T; Cannie, MM; Carlin, A; Sebire, NJ; Arthurs, OJ; Jani, JC; - view fewer (2019) Postmortem examination of human fetuses: a comparison of 2-dimensional ultrasound with invasive autopsy. Ultrasound in Obstetric and Gynecology , 53 (2) pp. 229-238. 10.1002/uog.18828.

Kappen, P; Eltze, C; Tisdall, M; Cross, JH; Thornton, R; Moeller, F; (2020) Stereo-EEG exploration in the insula/operculum in paediatric patients with refractory epilepsy. Seizure , 78 pp. 63-70. 10.1016/j.seizure.2020.02.011.

Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; ... Rahim, AA; + view all Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; Baruteau, J; Gissen, P; Chan, JK; Bacchelli, C; Waddington, SN; Rahim, AA; - view fewer (2014) Perinatal systemic gene delivery using adeno-associated viral vectors. Front Mol Neurosci , 7 , Article 89. 10.3389/fnmol.2014.00089.

Kasradze, Sofia; Lomidze, Giorgi; Cross, J Helen; Kvernadze, David; Alkhidze, Maia; Gagoshidze, Tamar; (2021) A six-year longitudinal study of neurocognitive problems in children with epilepsy. Brain and Development , 43 (8) pp. 833-842. 10.1016/j.braindev.2021.03.007.

Katus, Laura; Milosavljevic, Bosiljka; Rozhko, Maria; McCann, Samantha; Mason, Luke; Mbye, Ebrima; Touray, Ebou; ... de Haan, Michelle; + view all Katus, Laura; Milosavljevic, Bosiljka; Rozhko, Maria; McCann, Samantha; Mason, Luke; Mbye, Ebrima; Touray, Ebou; Moore, Sophie E; Elwell, Clare E; Lloyd-Fox, Sarah; de Haan, Michelle; - view fewer (2022) Neural Marker of Habituation at 5 Months of Age Associated with Deferred Imitation Performance at 12 Months: A Longitudinal Study in the UK and The Gambia. Children , 9 (7) , Article 988. 10.3390/children9070988.

Katus, L; Hayes, N; Mason, L; Blasi, A; McCann, S; Darboe, M; de Haan, M; ... Elwell, C; + view all Katus, L; Hayes, N; Mason, L; Blasi, A; McCann, S; Darboe, M; de Haan, M; Moore, S; Lloyd-Fox, S; Elwell, C; - view fewer (2019) Implementing neuroimaging and eye tracking methods to assess neurocognitive development of young infants in low- and middle-income countries [version 2; peer review: 2 approved]. Gates Open Research , 3 , Article 1113. 10.12688/gatesopenres.12951.2.

Katus, L; Mason, L; Milosavljevic, B; McCann, S; Rozhko, M; Moore, SE; Elwell, CE; ... BRIGHT project team; + view all Katus, L; Mason, L; Milosavljevic, B; McCann, S; Rozhko, M; Moore, SE; Elwell, CE; Lloyd-Fox, S; De Haan, M; BRIGHT project team; - view fewer (2020) ERP markers are associated with neurodevelopmental outcomes in 1–5 month old infants in rural Africa and the UK. NeuroImage , 210 , Article 116591. 10.1016/j.neuroimage.2020.116591.

Kawadler, JM; (2015) Neuroimaging Biomarkers in Paediatric Sickle Cell Disease. Doctoral thesis , UCL (University College London).

Kawadler, JM; Clark, CA; McKinstry, RC; Kirkham, FJ; (2017) Brain atrophy in paediatric sickle cell anaemia: findings from the silent infarct transfusion ( SIT) trial. [Editorial comment]. British Journal of Haematology , 177 (1) pp. 151-153. 10.1111/bjh.14039.

Kawadler, JM; Clayden, JD; Clark, CA; Kirkham, FJ; (2016) Intelligence quotient in paediatric sickle cell disease: a systematic review and meta-analysis. Developmental Medicine & Child Neurology , 58 (7) pp. 672-679. 10.1111/dmcn.13113.

Kawadler, JM; Kirkham, FJ; (2016) Neurological Complications and MRI. In: Inusa, BPD, (ed.) Sickle Cell Disease - Pain and Common Chronic Complications. InTech: Rijeka, Croatia.

Kawadler, JM; Slee, A; Stotesbury, H; Koelbel, M; Balfour, P; Saunders, DE; Rees, D; ... Liossi, C; + view all Kawadler, JM; Slee, A; Stotesbury, H; Koelbel, M; Balfour, P; Saunders, DE; Rees, D; Howard, J; Inusa, B; Pelidis, M; Kesse-Adu, R; Chakravorty, S; Awogbade, M; Clark, CA; Kirkham, FJ; Liossi, C; - view fewer (2019) Index of Pain Experience in Sickle Cell Anaemia (IPESCA): development from daily pain diaries and initial findings from use with children and adults with sickle cell anaemia. British Journal of Haematology , 186 (2) pp. 360-363. 10.1111/bjh.15841.

Kelleher, Stephanie C; Kirkham, Fenella J; Hood, Anna M; (2023) Executive Function and Processing Speed in Children Living with Sickle Cell Anemia. Children , 10 (10) , Article 1585. 10.3390/children10101585.

Keller, M; Brennenstuhl, H; Kuseyri Hübschmann, O; Manti, F; Julia Palacios, NA; Friedman, J; Yıldız, Y; ... Fung, C-W; + view all Keller, M; Brennenstuhl, H; Kuseyri Hübschmann, O; Manti, F; Julia Palacios, NA; Friedman, J; Yıldız, Y; Koht, JA; Wong, S-N; Zafeiriou, DI; López-Laso, E; Pons, R; Kulhánek, J; Jeltsch, K; Serrano-Lomelin, J; Garbade, SF; Opladen, T; Goez, H; International Working Group on Neurotransmitter related Disorder; Burlina, A; Cortès-Saladelafont, E; Fernández Ramos, JA; García-Cazorla, A; Hoffmann, GF; Kiat Hong, ST; Honzík, T; Kavecan, I; Kurian, MA; Leuzzi, V; Lücke, T; Manzoni, F; Mastrangelo, M; Mercimek-Andrews, S; Mir, P; Oppebøen, M; Pearson, TS; Sivri, HS; Steel, D; Stevanović, G; Fung, C-W; - view fewer (2021) Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry. Journal of Inherited Metabolic Disease , 44 (6) pp. 1489-1502. 10.1002/jimd.12416.

Kendall, J; Maconochie, I; Wong, IC; Howard, R; DIASAFE study, A; (2015) A novel multipatient intranasal diamorphine spray for use in acute pain in children: pharmacovigilance data from an observational study. Emergency Medicine Journal , 32 (4) pp. 269-273. 10.1136/emermed-2013-203226.

Kennedy, E; Lane, C; Stynes, H; Ranieri, V; Spinner, L; Carmichael, P; Omar, R; ... King, M; + view all Kennedy, E; Lane, C; Stynes, H; Ranieri, V; Spinner, L; Carmichael, P; Omar, R; Vickerstaff, V; Hunter, R; Senior, R; Butler, G; Baron-Cohen, S; de Graaf, N; Steensma, TD; de Vries, A; Young, B; King, M; - view fewer (2021) Longitudinal Outcomes of Gender Identity in Children (LOGIC): study protocol for a retrospective analysis of the characteristics and outcomes of children referred to specialist gender services in the UK and the Netherlands. BMJ Open , 11 (11) , Article e054895. 10.1136/bmjopen-2021-054895.

Kennedy, E; Spinner, L; Lane, C; Stynes, H; Ranieri, V; Carmichael, P; Omar, R; ... King, M; + view all Kennedy, E; Spinner, L; Lane, C; Stynes, H; Ranieri, V; Carmichael, P; Omar, R; Vickerstaff, V; Hunter, R; Wright, T; Senior, R; Butler, G; Baron-Cohen, S; Young, B; King, M; - view fewer (2021) Longitudinal Outcomes of Gender Identity in Children (LOGIC): Protocol for a prospective longitudinal cohort study of children referred to the UK gender identity development service. BMJ Open , 11 (9) , Article e045628. 10.1136/bmjopen-2020-045628.

Kerkelä, Leevi; (2021) Quantifying Brain Microstructure with Diffusion MRI: An Assessment of Microscopic Anisotropy Imaging. Doctoral thesis (Ph.D), UCL (University College London).

Kerkelä, Leevi; Nery, Fabio; Hall, Matt; Clark, Chris; (2020) Disimpy: A massively parallel Monte Carlo simulator for generating diffusion-weighted MRI data in Python. Journal of Open Source Software , 5 (52) , Article 2527. 10.21105/joss.02527.

Kerkelä, Leevi; Seunarine, Kiran; Szczepankiewicz, Filip; Clark, Chris A; (2024) Spherical convolutional neural networks can improve brain microstructure estimation from diffusion MRI data. Frontiers in Neuroimaging , 3 , Article 1349415. 10.3389/fnimg.2024.1349415.

Kerkelä, L; Henriques, RN; Hall, MG; Clark, CA; Shemesh, N; (2020) Validation and noise robustness assessment of microscopic anisotropy estimation with clinically feasible double diffusion encoding MRI. Magnetic Resonance in Medicine , 83 (5) pp. 1698-1710. 10.1002/mrm.28048.

Kerkelä, L; Nery, F; Callaghan, R; Zhou, F; Gyori, NG; Szczepankiewicz, F; Palombo, M; ... Clark, CA; + view all Kerkelä, L; Nery, F; Callaghan, R; Zhou, F; Gyori, NG; Szczepankiewicz, F; Palombo, M; Parker, GJM; Zhang, H; Hall, MG; Clark, CA; - view fewer (2021) Comparative analysis of signal models for microscopic fractional anisotropy estimation using q-space trajectory encoding. NeuroImage , 242 , Article 118445. 10.1016/j.neuroimage.2021.118445.

Keylock, A; Hong, Y; Saunders, D; Omoyinmi, E; Mulhern, C; Roebuck, D; Brogan, P; ... Eleftheriou, D; + view all Keylock, A; Hong, Y; Saunders, D; Omoyinmi, E; Mulhern, C; Roebuck, D; Brogan, P; Ganesan, V; Eleftheriou, D; - view fewer (2017) Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11. Neurology 10.1212/WNL.0000000000004828.

Khamis, Sonia; Mitakidou, Maria R; Champion, Michael; Goyal, Sushma; Jones, Rachel L; Siddiqui, Ata; Sabanathan, Saraswathy; ... Papandreou, Apostolos; + view all Khamis, Sonia; Mitakidou, Maria R; Champion, Michael; Goyal, Sushma; Jones, Rachel L; Siddiqui, Ata; Sabanathan, Saraswathy; Hedderly, Tammy; Lin, Jean-Pierre; Jungbluth, Heinz; Papandreou, Apostolos; - view fewer (2023) Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy. Neurology , 100 (1) pp. 30-37. 10.1212/WNL.0000000000201385.

Khan, DZ; Marcus, HJ; Horsfall, HL; Bandyopadhyay, S; Schroeder, BE; Patel, V; O’Donnell, A; ... Youssef, M; + view all Khan, DZ; Marcus, HJ; Horsfall, HL; Bandyopadhyay, S; Schroeder, BE; Patel, V; O’Donnell, A; Ahmed, S; Alalade, AF; Ali, AMS; Allison, C; Al-Barazi, S; Al-Mahfoudh, R; Amarouche, M; Bahl, A; Bennett, D; Bhalla, R; Bhatt, P; Boukas, A; Cabrilo, I; Chadwick, A; Chowdhury, YA; Choi, D; Cudlip, SA; Donnelly, N; Dorward, NL; Dow, G; Fountain, DM; Grieve, J; Giamouriadis, A; Gilkes, C; Gnanalingham, K; Halliday, J; Hanna, B; Hayhurst, C; Hempenstall, J; Henderson, D; Hossain-Ibrahim, K; Hirst, T; Hughes, M; Javadpour, M; Jenkins, A; Kamel, M; Mannion, RJ; Kolias, AG; Khan, H; Khan, MS; Lacy, P; Mahmood, S; Maratos, E; Martin, A; Mathad, N; McAleavey, P; Mendoza, N; Millward, CP; Mirza, S; Muquit, S; Murray, D; Naik, PP; Nair, R; Nicholson, C; Paluzzi, A; Pathmanaban, O; Paraskevopoulos, D; Pollock, J; Rory J Piper, NP; Ram, B; Robertson, I; Roman, E; Ross, P; Santarius, T; Sayal, P; Shapey, J; Sharma, R; Shaw, S; Shoakazemi, A; Sinha, S; Solomou, G; Stapleton, S; Statham, P; Stew, B; Shumon, S; Soon, WC; Thomas, N; Tsermoulas, G; Tysome, JR; Varma, A; Weir, P; Williams, A; Youssef, M; - view fewer (2021) CSF Rhinorrhoea After Endonasal Intervention to the Skull Base (CRANIAL) - Part 1: Multicenter Pilot Study. World Neurosurgery , 149 pp. 1077-1089. 10.1016/j.wneu.2020.12.171.

Khan, M; Chari, A; Seunarine, K; Eltze, C; Moeller, F; D'Arco, F; Thornton, R; ... Tisdall, MM; + view all Khan, M; Chari, A; Seunarine, K; Eltze, C; Moeller, F; D'Arco, F; Thornton, R; Das, K; Boyd, S; Helen Cross, J; Zubair Tahir, M; Tisdall, MM; - view fewer (2022) Proportion of resected seizure onset zone contacts in pediatric stereo-EEG-guided resective surgery does not correlate with outcome. Clinical Neurophysiology , 138 pp. 18-24. 10.1016/j.clinph.2022.03.012.

Khan, DZ; Bandyopadhyay, S; Patel, V; Schroeder, BE; Cabrilo, I; Choi, D; Cudlip, SA; ... Williams, A; + view all Khan, DZ; Bandyopadhyay, S; Patel, V; Schroeder, BE; Cabrilo, I; Choi, D; Cudlip, SA; Donnelly, N; Dorward, NL; Fountain, DM; Grieve, J; Halliday, J; Kolias, AG; Mannion, RJ; O'Donnell, A; Phillips, N; Piper, RJ; Ramachandran, B; Santarius, T; Sayal, P; Sharma, R; Solomou, G; Tysome, JR; Marcus, HJ; Neurology and Neurosurgery Interest Group (NANSIG), British Neur; Alalade, AF; Ahmed, S; Al-Barazi, S; Al-Mahfoudh, R; Bahl, A; Bennett, D; Bhalla, R; Bhatt, P; Dow, G; Giamouriadis, A; Gilkes, C; Gnanalingham, K; Hanna, B; Hayhurst, C; Hempenstall, J; Hossain-Ibrahim, K; Hughes, M; Javadpour, M; Jenkins, A; Kamel, M; Habibullah Khan, M; Lacy, P; Maratos, E; Martin, A; Mathad, N; Mendoza, N; Mirza, S; Muquit, S; Nair, R; Nicholson, C; Paluzzi, A; Paraskevopoulos, D; Pathmanaban, O; Pollock, J; Ram, B; Robertson, I; Ross, P; Shaw, S; Shoakazemi, A; Sinha, S; Stapleton, S; Statham, P; Stew, B; Thomas, N; Tsermoulas, G; Weir, P; Williams, A; - view fewer (2020) CSF rhinorrhoea after endonasal intervention to the anterior skull base (CRANIAL): proposal for a prospective multicentre observational cohort study. British Journal of Neurosurgery 10.1080/02688697.2020.1795622. (In press).

Khan, K; Hollis, C; Hall, CL; Davies, EB; Mataix-Cols, D; Andrén, P; Murphy, T; ... Glazebrook, C; + view all Khan, K; Hollis, C; Hall, CL; Davies, EB; Mataix-Cols, D; Andrén, P; Murphy, T; Brown, BJ; Murray, E; Glazebrook, C; - view fewer (2020) Protocol for the Process Evaluation of the Online Remote Behavioural Intervention for Tics (ORBIT) randomized controlled trial for children and young people. Trials , 21 (1) , Article 6. 10.1186/s13063-019-3974-3.

Khan, K; Hollis, C; Hall, CL; Murray, E; Davies, EB; Andrén, P; Mataix-Cols, D; ... Glazebrook, C; + view all Khan, K; Hollis, C; Hall, CL; Murray, E; Davies, EB; Andrén, P; Mataix-Cols, D; Murphy, T; Glazebrook, C; - view fewer (2021) Fidelity of delivery and contextual factors influencing children’s level of engagement: Process evaluation of the Online Remote Behavioural Intervention for Tics (ORBIT) Trial (Preprint). Journal of Medical Internet Research 10.2196/25470. (In press).

Kija, EN; Saunders, DE; Munubhi, E; Darekar, A; Barker, S; Cox, TCS; Mango, M; ... Newton, CRJC; + view all Kija, EN; Saunders, DE; Munubhi, E; Darekar, A; Barker, S; Cox, TCS; Mango, M; Soka, D; Komba, J; Nkya, DA; Cox, SE; Kirkham, FJ; Newton, CRJC; - view fewer (2019) Transcranial Doppler and Magnetic Resonance in Tanzanian Children With Sickle Cell Disease. Stroke , 50 (7) pp. 1719-1726. 10.1161/STROKEAHA.118.018920.

Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; ... Taylor, J Paul; + view all Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R; Foley, A Reghan; Fare, Charlotte M; Ford, Alice F; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G; Buchert, Rebecca; Grimmel, Mona; Töpf, Ana; Zaharieva, Irina T; Brady, Lauren; Hu, Ying; Lloyd, Thomas E; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Péréon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E; Shatillo, Andriy; Raymond, F Lucy; Haack, Tobias B; Quijano-Roy, Susana; Böhm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A; Shorter, James; Bönnemann, Carsten G; Taylor, J Paul; - view fewer (2022) Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature Communications , 13 , Article 2306. 10.1038/s41467-022-30015-1.

Kim, J; Jimenez-Mallebrera, C; Foley, AR; Fernandez-Fuente, M; Brown, SC; Torelli, S; Feng, L; ... Muntoni, F; + view all Kim, J; Jimenez-Mallebrera, C; Foley, AR; Fernandez-Fuente, M; Brown, SC; Torelli, S; Feng, L; Sewry, CA; Muntoni, F; - view fewer (2012) Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscular Disorders , 22 (2) 139 - 148. 10.1016/j.nmd.2011.08.006.

Kim, J; Lana, B; Torelli, S; Ryan, D; Catapano, F; Ala, P; Luft, C; ... Lin, Y-Y; + view all Kim, J; Lana, B; Torelli, S; Ryan, D; Catapano, F; Ala, P; Luft, C; Stevens, E; Konstantinidis, E; Louzada, S; Fu, B; Paredes-Redondo, A; Chan, AE; Yang, F; Stemple, DL; Liu, P; Ketteler, R; Selwood, DL; Muntoni, F; Lin, Y-Y; - view fewer (2019) A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. EMBO Reports , 20 (11) , Article e47967. 10.15252/embr.201947967.

King, DR; de Chastelaine, M; Elward, RL; Wang, TH; Rugg, MD; (2018) Dissociation between the neural correlates of recollection and familiarity in the striatum and hippocampus: Across-study convergence. Behavioural Brain Research , 354 pp. 1-7. 10.1016/j.bbr.2017.07.031.

Kingswood, JC; Belousova, E; Benedik, MP; Budde, K; Carter, T; Cottin, V; Curatolo, P; ... Jansen, AC; + view all Kingswood, JC; Belousova, E; Benedik, MP; Budde, K; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; - view fewer (2021) TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex. Frontiers in Neurology , 12 , Article 630378. 10.3389/fneur.2021.630378.

Kingswood, JC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... TOSCA Consortium and TOSCA Investigators; + view all Kingswood, JC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D' Amato, L; d'Augères, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; TOSCA Consortium and TOSCA Investigators; - view fewer (2018) Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrology Dialysis Transplantation , Article gfy063. 10.1093/ndt/gfy063.

Kingswood, JC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Sauter, M; + view all Kingswood, JC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; Beaure D'Augeres, G; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; Sauter, M; - view fewer (2020) Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. Frontiers in neurology , 11 , Article ARTN 972. 10.3389/fneur.2020.00972.

Kingswood, JC; d'Augères, GB; Belousova, E; Ferreira, JC; Carter, T; Castellana, R; Cottin, V; ... TOSCA consortium and TOSCA investigators, .; + view all Kingswood, JC; d'Augères, GB; Belousova, E; Ferreira, JC; Carter, T; Castellana, R; Cottin, V; Curatolo, P; Dahlin, M; de Vries, PJ; Feucht, M; Fladrowski, C; Gislimberti, G; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Nabbout, R; O'Callaghan, F; Benedik, MP; Qin, J; Marques, R; Sander, V; Sauter, M; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; TOSCA consortium and TOSCA investigators, .; - view fewer (2017) TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet Journal of Rare Diseases , 12 , Article 2. 10.1186/s13023-016-0553-5.

Kinsler, VA; Polubothu, S; Calonje, JE; Chong, WK; Thompson, D; Jacques, TS; Morrogh, D; (2016) Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma. Acta Neuropathologica , 133 (2) pp. 329-331. 10.1007/s00401-016-1651-0.

Kirkham, Fenella J; Clayden, Jonathan D; Stotesbury, Hanne; Kawadler, Jamie M; Slee, April; Koelbel, Melanie; Saunders, Dawn E; ... Clark, Chris A; + view all Kirkham, Fenella J; Clayden, Jonathan D; Stotesbury, Hanne; Kawadler, Jamie M; Slee, April; Koelbel, Melanie; Saunders, Dawn E; Hood, Anna M; Wilkey, Olu; Layton, Mark; Inusa, Baba PD; Pelidis, Maria; Chakravorty, Subarna; Rees, David C; Howard, Jo; Awogbade, Moji; Liossi, Christina; Clark, Chris A; - view fewer (2023) Structural connectivity mediates the relationship between blood oxygenation and cognitive function in sickle cell anemia. Blood Advances , 7 (11) pp. 2297-2308. 10.1182/bloodadvances.2021006751.

Kirkham, FJ; Abel, F; Gavlak, JC; Russo, K; Laverty, A; Kirkham, FJ; (2015) Nocturnal desaturation and proteinuria in children with sickle cell anaemia. In: Special Issue: Abstracts of the 55th Annual Scientific Meeting of the British Society for Haematology. (pp. p. 22). WILEY-BLACKWELL: Edinburgh, UK.

Kirkham, FJ; Lagunju, IA; (2021) Epidemiology of stroke in sickle cell disease. Journal of Clinical Medicine , 10 (18) , Article 4232. 10.3390/jcm10184232.

Kirkham, F; (2020) Coagulopathies. In: Rosenberg, R and Pascual, J, (eds.) Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. (pp. 579-593). Elsevier

Kirkham, F; (2020) Sickle Cell Disease. In: Rosenberg, R and Pascual, J, (eds.) Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. (pp. 595-609). Elsevier

Kirkham, F; Auvin, S; Moreira, J; Gama, H; Falcão, AC; Rocha, J-F; Soares-da-Silva, P; (2020) Efficacy and safety of eslicarbazepine acetate as adjunctive therapy for refractory focal-onset seizures in children: A double-blind, randomized, placebo-controlled, parallel-group, multicenter, phase-III clinical trial. Epilepsy and Behavior , 105 , Article 106962. 10.1016/j.yebeh.2020.106962.

Kirkham, F; Laugesaar, R; Talvik, T; Metsvaht, T; Talvik, I; (2020) Acute stroke. In: Kennedy, C, (ed.) Principles and Practice of Child Neurology in Infancy. MacKeith Press

Kirkham, F; Talviik, T; Metsvaht, T; Talviik, I; (2020) Acute non-febrile encephalopathy and traumatic brain injury. In: Kennedy, C, (ed.) Principles and Practice of Child Neurology in Infancy. MacKeith Press

Kirkham, FJ; (2017) Editorial. [Editorial comment]. Current Opinion in Neurology , 30 (2) pp. 125-126. 10.1097/WCO.0000000000000428.

Kirkham, FJ; (2017) Neurocognitive outcomes for acute global acquired brain injury in children. Current Opinion in Neurology , 30 (2) pp. 148-155. 10.1097/WCO.0000000000000427.

Kirkham, FJ; Kawadler, JM; Clark, CA; Hales, PW; Cox, TS; Barker, S; (2018) Cerebral perfusion characteristics show differences in younger vs. older children with sickle cell anaemia: results from a multiple inflow time arterial spin labelling study. NMR in Biomedicine , 31 (6) 10.1002/nbm.3915.

Kirkham, FJ; Keylock, A; Saunders, D; (2018) Stroke in childhood neurofibromatosis type 2. Developmental Medicine and Child Neurology , 60 (12) pp. 1199-1200. 10.1111/dmcn.13965.

Kirkham, FJ; Shmueli, K; (2018) Brain iron in sickle cell disease? [Editorial comment]. Blood , 132 (15) pp. 1550-1552. 10.1182/blood-2018-08-867010.

Kirkham, FJ; Vigevano, F; Raspall-Chaure, M; Wilken, B; Lee, D; Le Reun, C; Werner-Kiechle, T; Kirkham, FJ; Vigevano, F; Raspall-Chaure, M; Wilken, B; Lee, D; Le Reun, C; Werner-Kiechle, T; Lagae, L; - view fewer (2020) Health-related quality of life and the burden of prolonged seizures in noninstitutionalized children with epilepsy. Epilepsy and Behavior , 102 , Article 106340. 10.1016/j.yebeh.2019.04.058.

Kirkham, FJ; Zafeiriou, D; Howe, D; Czarpran, P; Harris, A; Gunny, R; Vollmer, B; (2018) Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins. European Journal of Paediatric Neurology , 22 (6) pp. 989-1005. 10.1016/j.ejpn.2018.08.008.

Kirkpatrick, M; O'Callaghan, F; (2021) Epilepsy and cannabis: so near, yet so far. Developmental Medicine & Child Neurology , 64 (2) pp. 162-167. 10.1111/dmcn.15032.

Kirschner, J; Butoianu, N; Goemans, N; Haberlova, J; Kostera-Pruszczyk, A; Mercuri, E; van der Pol, WL; ... Muntoni, F; + view all Kirschner, J; Butoianu, N; Goemans, N; Haberlova, J; Kostera-Pruszczyk, A; Mercuri, E; van der Pol, WL; Quijano-Roy, S; Sejersen, T; Tizzano, EF; Ziegler, A; Servais, L; Muntoni, F; - view fewer (2020) European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. European Journal of Paediatric Neurology 10.1016/j.ejpn.2020.07.001. (In press).

Klöckner, C; Sticht, H; Zacher, P; Popp, B; Bakker, DP; Barwick, K; Bonfert, MV; ... Platzer, K; + view all Klöckner, C; Sticht, H; Zacher, P; Popp, B; Bakker, DP; Barwick, K; Bonfert, MV; Bönnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramsay, J; Keren, B; Kurian, MA; Lee, V; Leppig, K; Lundgren, J; McDonald, M; McTague, A; Mefford, H; Mignot, C; Mikati, M; Nava, C; Raymond, FL; Sampson, J; Sanchis-Juan, A; Shashi, V; Shieh, J; Shinawi, M; Slavotinek, A; Stödberg, T; Stong, N; Sullivan, J; Taylor, A; Toler, T; Van den Boogaard, M-J; Van der Crabben, S; Van Gassen, K; Van Jaarsveld, RH; Van Ziffle, J; Wadley, A; Wagner, M; Wigby, K; Wortman, S; Zarate, Y; Moller, RS; Lemke, JR; Platzer, K; - view fewer (2021) De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine , 23 pp. 653-660. 10.1038/s41436-020-01020-w.

Knight, Elia M Pestana; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; ... Marigold Trial Group; + view all Knight, Elia M Pestana; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; Specchio, Nicola; Fleming, Thomas R; Aimetti, Alex A; Gasior, Maciej; Devinsky, Orrin; Marigold Trial Group; - view fewer (2022) Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. The Lancet Neurology , 21 (5) pp. 417-427. 10.1016/S1474-4422(22)00077-1.

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; ... Kinsler, Veronica A; + view all Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A; - view fewer (2023) GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification. Journal of Investigative Dermatology 10.1016/j.jid.2023.09.008. (In press).

Knowles, RL; Oerton, J; Cheetham, T; Butler, G; Cavanagh, C; Tetlow, L; Dezateux, C; (2018) Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds. Journal of Clinical Endocrinology and Metabolism , 103 (10) pp. 3720-3728. 10.1210/jc.2018-00658.

Kobulashvili, T; Kuchukhidze, G; Brigo, F; Zimmermann, G; Hoefler, J; Leitinger, M; Dobesberger, J; ... E-PILEPSY consortium, .; + view all Kobulashvili, T; Kuchukhidze, G; Brigo, F; Zimmermann, G; Hoefler, J; Leitinger, M; Dobesberger, J; Kalss, G; Rohracher, A; Neuray, C; Wakonig, A; Ernst, F; Braun, KPJ; Mouthaan, BE; Van Eijsden, P; Ryvlin, P; Cross, JH; Trinka, E; E-PILEPSY consortium, .; - view fewer (2018) Diagnostic and prognostic value of noninvasive long-term video-electroencephalographic monitoring in epilepsy surgery: A systematic review and meta-analysis from the E-PILEPSY consortium. Epilepsia , 59 (12) pp. 2272-2283. 10.1111/epi.14598.

Koelbel, Melanie; Hamdule, Shifa; Kirkham, Fenella J; Stotesbury, Hanne; Hood, Anna Marie; Dimitriou, Dagmara; (2023) Mind the gap: trajectory of cognitive development in young individuals with sickle cell disease: a cross-sectional study. Frontiers in Neurology , 14 , Article 1087054. 10.3389/fneur.2023.1087054.

Koelble, K; Cross, JH; Becker, A; Bluemcke, I; (2018) A web-based diagnostic reference centre for the European Reference Network "EpiCare": recommendations of the eNeuropathology working group. Epileptic Disorders , 20 (5) pp. 339-345. 10.1684/epd.2018.1002.

Koens, Lisette H; Klamer, Marrit R; Sival, Deborah A; Balint, Bettina; Bhatia, Kailash P; Contarino, Maria Fiorella; van Egmond, Martje E; ... Tijssen, Marina AJ; + view all Koens, Lisette H; Klamer, Marrit R; Sival, Deborah A; Balint, Bettina; Bhatia, Kailash P; Contarino, Maria Fiorella; van Egmond, Martje E; Erro, Roberto; Friedman, Jennifer; Fung, Victor SC; Ganos, Christos; Kurian, Manju A; Lang, Anthony E; McGovern, Eavan M; Roze, Emmanuel; de Koning, Tom J; Tijssen, Marina AJ; - view fewer (2023) A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism. Movement Disorders 10.1002/mds.29332. (In press).

Koffarnus, MN; Johnson, MW; Thompson-Lake, DGY; Wesley, MJ; Lohrenz, T; Montague, PR; Bickel, WK; (2016) Cocaine-Dependent Adults and Recreational Cocaine Users Are More Likely Than Controls to Choose Immediate Unsafe Sex Over Delayed Safer Sex. Experimental And Clinical Psychopharmacology , 24 (4) pp. 297-304. 10.1037/pha0000080.

Kok, TE; Domingo, D; Hassan, J; Vuong, A; Hordacre, B; Clark, C; Katrakazas, P; Kok, TE; Domingo, D; Hassan, J; Vuong, A; Hordacre, B; Clark, C; Katrakazas, P; Shekhawat, GS; - view fewer (2022) Resting-state Networks in Tinnitus: A Scoping Review. Clinical Neuroradiology 10.1007/s00062-022-01170-1. (In press).

Kok, Tori; Varley, Rosemary; Clark, Chris; Verriotis, Madeleine; Seunarine, Kiran; Shekhawat, Giriraj Singh; (2024) Resting-state networks in chronic tinnitus: Increased connectivity between thalamus and visual areas. Hearing Research , 453 , Article 109122. 10.1016/j.heares.2024.109122.

Kölbel, Melanie; (2025) Exploring the relationship between sleep and neurocognitive functioning in children and adolescents with sickle cell disease. Doctoral thesis (Ph.D), UCL (University College London).

Kölbel, M; Kirkham, FJ; Dimitriou, D; (2020) Developmental Profile of Sleep and Its Potential Impact on Daytime Functioning from Childhood to Adulthood in Sickle Cell Anaemia. Brain Sciences , 10 (12) , Article 981. 10.3390/brainsci10120981.

Kolbel, M; Stotesbury, H; Kawadler, J; Howard, J; Inusa, B; Rees, D; Chakravorty, S; ... Slee, A; + view all Kolbel, M; Stotesbury, H; Kawadler, J; Howard, J; Inusa, B; Rees, D; Chakravorty, S; Pelidis, M; Thein, SL; Kirkham, F; Slee, A; - view fewer (2018) Does auto-adjusting positive airway pressure (APAP) aid memory and learning in children with sickle cell disease and sleep disordered-breathing? Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK.

Kolias, AG; Edlmann, E; Thelin, EP; Bulters, D; Holton, P; Suttner, N; Owusu-Agyemang, K; ... British Neurosurgical Trainee Research Collaborative (BNTRC) and, .; + view all Kolias, AG; Edlmann, E; Thelin, EP; Bulters, D; Holton, P; Suttner, N; Owusu-Agyemang, K; Al-Tamimi, YZ; Gatt, D; Thomson, S; Anderson, IA; Richards, O; Whitfield, P; Gherle, M; Caldwell, K; Davis-Wilkie, C; Tarantino, S; Barton, G; Marcus, HJ; Chari, A; Brennan, P; Belli, A; Bond, S; Turner, C; Whitehead, L; Wilkinson, I; Hutchinson, PJ; British Neurosurgical Trainee Research Collaborative (BNTRC) and, .; - view fewer (2018) Dexamethasone for adult patients with a symptomatic chronic subdural haematoma (Dex-CSDH) trial: study protocol for a randomised controlled trial. Trials , 19 (1) , Article 670. 10.1186/s13063-018-3050-4.

Komulainen-Ebrahim, Jonna; Kangas, Salla M; López-Martín, Estrella; Feyma, Timothy; Scaglia, Fernando; Martínez-Delgado, Beatriz; Kuismin, Outi; ... Uusimaa, Johanna; + view all Komulainen-Ebrahim, Jonna; Kangas, Salla M; López-Martín, Estrella; Feyma, Timothy; Scaglia, Fernando; Martínez-Delgado, Beatriz; Kuismin, Outi; Suo-Palosaari, Maria; Carr, Lucinda; Hinttala, Reetta; Kurian, Manju A; Uusimaa, Johanna; - view fewer (2024) Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant. Movement Disorders Clinical Practice 10.1002/mdc3.14051. (In press).

Koopmann, Tamara T; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; ... Maroofian, Reza; + view all Koopmann, Tamara T; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A; Ruivenkamp, Claudia AL; Teunissen, Aalbertine KK; Ten Harkel, Arend DJ; van Duinen, Sjoerd G; Haak, Monique C; Prada, Carlos E; Santen, Gijs WE; Maroofian, Reza; - view fewer (2022) Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. European Journal of Human Genetics 10.1038/s41431-022-01204-9. (In press).

Kossoff, EH; Zupec-Kania, BA; Auvin, S; Ballaban-Gil, KR; Christina Bergqvist, AG; Blackford, R; Buchhalter, JR; ... Practice Committee of the Child Neurology Society, .; + view all Kossoff, EH; Zupec-Kania, BA; Auvin, S; Ballaban-Gil, KR; Christina Bergqvist, AG; Blackford, R; Buchhalter, JR; Caraballo, RH; Cross, JH; Dahlin, MG; Donner, EJ; Guzel, O; Jehle, RS; Klepper, J; Kang, H-C; Lambrechts, DA; Liu, YMC; Nathan, JK; Nordli, DR; Pfeifer, HH; Rho, JM; Scheffer, IE; Sharma, S; Stafstrom, CE; Thiele, EA; Turner, Z; Vaccarezza, MM; van der Louw, EJTM; Veggiotti, P; Wheless, JW; Wirrell, EC; The Charlie Foundation, .; Matthew's Friends, .; Practice Committee of the Child Neurology Society, .; - view fewer (2018) Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open , 3 (2) pp. 175-192. 10.1002/epi4.12225.

Krauwinkel, W; Will, E; Morita, D; Floricel, F; Elshoff, J-P; Pressler, R; (2021) Pharmacokinetics, safety, and tolerability of intravenous brivaracetam in neonates with seizures: Interim analysis of a phase 2/3, open‑label trial. Presented at: 34th International Epilepsy Congress, Virtual.

Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; Gadian, D; Chong, WK; Kuczynski, A; Dattani, M; Lyons, G; Efthymiadou, A; Varga-Khadem, F; Simons, BD; Chatterjee, K; Livesey, FJ; - view fewer (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116.

Kritikaki, Eleanna; Mancini, Matteo; Kyriazis, Diana; Sigala, Natasha; Farmer, Simon F; Berthouze, Luc; (2024) Constructing representative group networks from tractography: lessons from a dynamical approach. Frontiers in Network Physiology , 4 , Article 1457486. 10.3389/fnetp.2024.1457486.

Kucera, Filip; Laurence, Craig; Simmonds, Jacob; Gavela, Javier; Bodnar, Tetyana; Brogan, Paul; Hoskote, Aparna; ... Khambadkone, Sachin; + view all Kucera, Filip; Laurence, Craig; Simmonds, Jacob; Gavela, Javier; Bodnar, Tetyana; Brogan, Paul; Hoskote, Aparna; Skellett, Sophie; Moshal, Karyn; Bamford, Alasdair; Khambadkone, Sachin; - view fewer (2022) Cardiac outcomes in severe acute respiratory syndrome coronavirus-2-associated multisystem inflammatory syndrome at a tertiary paediatric hospital. Cardiology in the Young , Article PII S104795112100456X. 10.1017/S104795112100456X. (In press).

Kuchenbuch, M; D'Onofrio, G; Wirrell, E; Jiang, Y; Dupont, S; Grinspan, ZM; Auvin, S; ... Nabbout, R; + view all Kuchenbuch, M; D'Onofrio, G; Wirrell, E; Jiang, Y; Dupont, S; Grinspan, ZM; Auvin, S; Wilmshurst, JM; Arzimanoglou, A; Cross, JH; Specchio, N; Nabbout, R; - view fewer (2020) An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic. Epilepsy & Behavior , 112 , Article 107376. 10.1016/j.yebeh.2020.107376.

Kunpalin, Y; Richter, J; Mufti, N; Bosteels, J; Ourselin, S; De Coppi, P; Thompson, D; ... Deprest, J; + view all Kunpalin, Y; Richter, J; Mufti, N; Bosteels, J; Ourselin, S; De Coppi, P; Thompson, D; David, AL; Deprest, J; - view fewer (2021) Cranial findings detected by second trimester ultrasound in fetuses with myelomeningocele: a systematic review. BJOG , 128 (2) pp. 366-374. 10.1111/1471-0528.16496.

Kupferman, JC; Zafeiriou, DI; Lande, MB; Kirkham, FJ; Pavlakis, SG; (2017) Stroke and Hypertension in Children and Adolescents. Journal of Child Neurology , 32 (4) pp. 408-417. 10.1177/0883073816685240.

Kurian, M; (2020) Great expectations: Virus mediated gene therapy in neurological disorders. Journal of Neurology, Neurosurgery and Psychiatry , 91 (8) pp. 849-860. 10.1136/jnnp-2019-322327.

Kurian, MA; Dale, RC; (2016) Movement Disorders Presenting in Childhood. CONTINUUM: Lifelong Learning in Neurology , 22 (4) pp. 1159-1185. 10.1212/CON.0000000000000367.

Kurian, MA; Jungbluth, H; (2014) Genetic disorders of thyroid metabolism and brain development. Dev Med Child Neurol , 56 (7) pp. 627-634. 10.1111/dmcn.12445.

Kwon, Churl-Su; Jacoby, Ann; Ali, Amza; Austin, Joan; Birbeck, Gretchen L; Braga, Patricia; Cross, J Helen; ... Jette, Nathalie; + view all Kwon, Churl-Su; Jacoby, Ann; Ali, Amza; Austin, Joan; Birbeck, Gretchen L; Braga, Patricia; Cross, J Helen; de Boer, Hanneke; Dua, Tarun; Fernandes, Paula T; Fiest, Kirsten M; Goldstein, Jonathan; Haut, Sheryl; Lorenzetti, Diane; Mifsud, Janet; Moshe, Solomon; Parko, Karen L; Tripathi, Manjari; Wiebe, Samuel; Jette, Nathalie; - view fewer (2022) Systematic review of frequency of felt and enacted stigma in epilepsy and determining factors and attitudes toward persons living with epilepsy-Report from the International League Against Epilepsy Task Force on Stigma in Epilepsy. Epilepsia , 63 (3) pp. 573-597. 10.1111/epi.17135.

Kyba, M; Bloch, RJ; Dumonceaux, J; Harper, SQ; van der Maarel, SM; Sverdrup, FM; Wagner, KR; ... Chen, Y-W; + view all Kyba, M; Bloch, RJ; Dumonceaux, J; Harper, SQ; van der Maarel, SM; Sverdrup, FM; Wagner, KR; van Engelen, B; Chen, Y-W; - view fewer (2020) Meeting report: the 2020 FSHD International Research Congress. Skeletal Muscle , 10 , Article 36. 10.1186/s13395-020-00253-2.

L

L'Esperance, VS; Ekong, T; Cox, SE; Makani, J; Newton, CR; Soka, D; Komba, A; ... Hill, CM; + view all L'Esperance, VS; Ekong, T; Cox, SE; Makani, J; Newton, CR; Soka, D; Komba, A; Kirkham, FJ; Hill, CM; - view fewer (2016) Nocturnal haemoglobin oxygen desaturation in urban and rural East African paediatric cohorts with and without sickle cell anaemia: a cross-sectional study. Archives of Disease in Childhood , 101 (4) pp. 352-355. 10.1136/archdischild-2014-306468.

Lacerda, LM; Liasis, A; Handley, SE; Tisdall, M; Cross, JH; Vargha-Khadem, F; Clark, CA; (2021) Mapping degeneration of the visual system in long-term follow-up after childhood hemispherectomy - A series of four cases. Epilepsy Research , 178 , Article 106808. 10.1016/j.eplepsyres.2021.106808.

Lacerda, LM; Clayden, JD; Handley, SE; Winston, GP; Kaden, E; Tisdall, M; Cross, JH; ... Clark, CA; + view all Lacerda, LM; Clayden, JD; Handley, SE; Winston, GP; Kaden, E; Tisdall, M; Cross, JH; Liasis, A; Clark, CA; - view fewer (2020) Microstructural Investigations of the Visual Pathways in Pediatric Epilepsy Neurosurgery: Insights From Multi-Shell Diffusion Magnetic Resonance Imaging. Frontiers in Neuroscience , 14 , Article 269. 10.3389/fnins.2020.00269.

Lagae, L; Sullivan, J; Knupp, K; Laux, L; Polster, T; Nikanorova, M; Devinsky, O; ... FAiRE DS Study Group; + view all Lagae, L; Sullivan, J; Knupp, K; Laux, L; Polster, T; Nikanorova, M; Devinsky, O; Cross, JH; Guerrini, R; Talwar, D; Miller, I; Farfel, G; Galer, BS; Gammaitoni, A; Mistry, A; Morrison, G; Lock, M; Agarwal, A; Lai, WW; Ceulemans, B; FAiRE DS Study Group; - view fewer (2019) Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. The Lancet , 394 (10216) pp. 2243-2254. 10.1016/S0140-6736(19)32500-0.

Lakowski, J; Welby, E; Budinger, D; Di Marco, F; Di Foggia, V; Bainbridge, JWB; Wallace, K; ... Sowden, JC; + view all Lakowski, J; Welby, E; Budinger, D; Di Marco, F; Di Foggia, V; Bainbridge, JWB; Wallace, K; Gamm, DM; Ali, RR; Sowden, JC; - view fewer (2018) Isolation of Human Photoreceptor Precursors via a Cell Surface Marker Panel from Stem Cell-derived Retinal Organoids and Fetal Retinae. Stem Cells 10.1002/stem.2775. (In press).

Lamberink, HJ; Boshuisen, K; Otte, WM; Geleijns, K; Braun, KPJ; TimeToStop Study Group, .; (2018) Individualized prediction of seizure relapse and outcomes following antiepileptic drug withdrawal after pediatric epilepsy surgery. Epilepsia , 59 (3) e28-e33. 10.1111/epi.14020.

Lamberink, HJ; Geleijns, K; Otte, WM; Arzimanoglou, A; Cross, JH; Korff, CM; Ramantani, G; Lamberink, HJ; Geleijns, K; Otte, WM; Arzimanoglou, A; Cross, JH; Korff, CM; Ramantani, G; Braun, KPJ; - view fewer (2018) Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery. Epileptic Disorders , 20 (5) pp. 374-385. 10.1684/epd.2018.1003.

Lamberink, HJ; Otte, WM; Blümcke, I; Braun, KPJ; European Epilepsy Brain Bank writing group; study group; European Reference Network EpiCARE; (2020) Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study. Lancet Neurology , 19 (9) pp. 748-757. 10.1016/S1474-4422(20)30220-9.

Lambert, B; Lightfoot, K; Meskell, R; Whiteley, VJ; Martin-Mcgill, KJ; Schoeler, NE; (2021) Keto-on-the-clock: A survey of dietetic care contact time taken to provide ketogenic diets for drug-resistant epilepsy in the UK. Nutrients , 13 (8) , Article 2484.. 10.3390/nu13082484.

Landon, Gregory; Stimpson, Georgia; Guglieri, Michela; Sarkozy, Anna; Manzur, Adnan Y; UK NorthStar Clinical Network; Muntoni, Francesco; Landon, Gregory; Stimpson, Georgia; Guglieri, Michela; Sarkozy, Anna; Manzur, Adnan Y; UK NorthStar Clinical Network; Muntoni, Francesco; Baranello, Giovanni; - view fewer (2025) Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2024-335223. (In press).

Langan, D; Shelmerdine, S; Taylor, A; Bryant, WA; Booth, J; Sebire, NJ; Arthurs, O; Langan, D; Shelmerdine, S; Taylor, A; Bryant, WA; Booth, J; Sebire, NJ; Arthurs, O; Cortina-Borja, M; - view fewer (2021) Impact of the COVID-19 pandemic on radiology appointments in a tertiary children's hospital: a retrospective study. BMJ Paediatrics Open , 5 (1) , Article e001210. 10.1136/bmjpo-2021-001210.

Lange, J; Gillham, O; Alkharji, R; Eaton, S; Ferrari, G; Madej, M; Flower, M; ... Ferretti, P; + view all Lange, J; Gillham, O; Alkharji, R; Eaton, S; Ferrari, G; Madej, M; Flower, M; Tedesco, FS; Muntoni, F; Ferretti, P; - view fewer (2021) Dystrophin deficiency affects human astrocyte properties andresponse to damage. Glia 10.1002/glia.24116. (In press).

Lange, J; Wood-Kaczmar, A; Ali, A; Farag, S; Ghosh, R; Parker, J; Casey, C; ... Tabrizi, SJ; + view all Lange, J; Wood-Kaczmar, A; Ali, A; Farag, S; Ghosh, R; Parker, J; Casey, C; Uno, Y; Kunugi, A; Ferretti, P; Andre, R; Tabrizi, SJ; - view fewer (2021) Mislocalization of Nucleocytoplasmic Transport Proteins in Human Huntington’s Disease PSC-Derived Striatal Neurons. Frontiers in Cellular Neuroscience , 15 , Article 742763. 10.3389/fncel.2021.742763.

Lange, Jenny; Zhou, Haiyan; McTague, Amy; (2022) Cerebral Organoids and Antisense Oligonucleotide Therapeutics: Challenges and Opportunities. Frontiers in Molecular Neuroscience , 15 , Article 941528. 10.3389/fnmol.2022.941528.

Lange, J; Haslett, LJ; Lloyd-Evans, E; Pocock, JM; Sands, MS; Williams, BP; Cooper, JD; (2018) Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. Acta Neuropathologica Communications , 6 , Article 74. 10.1186/s40478-018-0575-4.

Lapidaire, Winok; Clayden, Jonathan D; Fewtrell, Mary S; Clark, Christopher A; (2023) Increased white matter fibre dispersion and lower IQ scores in adults born preterm. Human Brain Mapping 10.1002/hbm.26545. (In press).

Lapidaire, W; Clark, C; Fewtrell, MS; Lucas, A; Leeson, P; Lewandowski, AJ; (2021) The Preterm Heart-Brain Axis in Young Adulthood: The Impact of Birth History and Modifiable Risk Factors. Journal of Clinical Medicine , 10 (6) , Article 1285. 10.3390/jcm10061285.

Lapidaire, W; Lucas, A; Clayden, JD; Clark, C; Fewtrell, MS; (2021) Human milk feeding and cognitive outcome in preterm infants: the role of infection and NEC reduction. Pediatric Research 10.1038/s41390-021-01367-z. (In press).

Lascelles, K; Afridi, S; Siddiqui, A; Hemingway, C; Ferner, R; Ganesan, V; (2018) Cerebral vasculopathy in childhood neurofibromatosis type 2: cause for concern? Developmental Medicine and Child Neurology , 60 (12) pp. 1285-1288. 10.1111/dmcn.13920.

Laurie, S; Piscia, D; Matalonga, L; Corvó, A; Fernández-Callejo, M; Garcia-Linares, C; Hernandez-Ferrer, C; ... Beltran, S; + view all Laurie, S; Piscia, D; Matalonga, L; Corvó, A; Fernández-Callejo, M; Garcia-Linares, C; Hernandez-Ferrer, C; Luengo, C; Martínez, I; Papakonstantinou, A; Picó-Amador, D; Protasio, J; Thompson, R; Tonda, R; Bayés, M; Bullich, G; Camps-Puchadas, J; Paramonov, I; Trotta, JR; Alonso, A; Attimonelli, M; Béroud, C; Bros-Facer, V; Buske, OJ; Cañada-Pallarés, A; Fernández, JM; Hansson, MG; Horvath, R; Jacobsen, JOB; Kaliyaperumal, R; Lair-Préterre, S; Licata, L; Lopes, P; López-Martín, E; Mascalzoni, D; Monaco, L; Pérez-Jurado, LA; Posada de la Paz, M; Rambla, J; Rath, A; Riess, O; Robinson, PN; Smedley, D; Spalding, D; 't Hoen, PAC; Töpf, A; Zaharieva, I; Graessner, H; Gut, IG; Lochmüller, H; Beltran, S; - view fewer (2022) The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human Mutation: Variation, Informatics and Disease , 43 (6) pp. 717-733. 10.1002/humu.24353.

Lavander-Ferreira, Mérari Jizar; (2020) Number Processing in Infants and Children Born Very Preterm. Doctoral thesis (Ph.D), UCL (University College London).

Layard Horsfall, H; Chari, A; Huttunen, T; Simcock, C; D'Arco, F; Thompson, D; (2019) Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review. Child's Nervous System , 35 (11) pp. 2163-2169. 10.1007/s00381-019-04373-z.

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; ... Bryant, Laura M; + view all Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, MJM; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L E Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth JK; Bryant, Laura M; - view fewer (2024) Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European Journal of Human Genetics 10.1038/s41431-024-01610-1. (In press).

Le Gall, Laura; Anakor, Ekene; Connolly, Owen; Vijayakumar, Udaya Geetha; Duddy, William J; Duguez, Stephanie; (2020) Molecular and Cellular Mechanisms Affected in ALS. Journal of Personalized Medicine , 10 (3) , Article 101. 10.3390/jpm10030101.

Le Gall, Laura; Duddy, William J; Martinat, Cecile; Mariot, Virginie; Connolly, Owen; Milla, Vanessa; Anakor, Ekene; ... Pradat, Pierre Francois; + view all Le Gall, Laura; Duddy, William J; Martinat, Cecile; Mariot, Virginie; Connolly, Owen; Milla, Vanessa; Anakor, Ekene; Ouandaogo, Zamalou G; Millecamps, Stephanie; Laine, Jeanne; Vijayakumar, Udaya Geetha; Knoblach, Susan; Raoul, Cedric; Lucas, Olivier; Loeffler, Jean Philippe; Bede, Peter; Behin, Anthony; Blasco, Helene; Bruneteau, Gaelle; Del Mar Amador, Maria; Devos, David; Henriques, Alexandre; Hesters, Adele; Lacomblez, Lucette; Laforet, Pascal; Langlet, Timothee; Leblanc, Pascal; Le Forestier, Nadine; Maisonobe, Thierry; Meininger, Vincent; Robelin, Laura; Salachas, Francois; Stojkovic, Tanya; Querin, Giorgia; Dumonceaux, Julie; Butler Browne, Gillian; Gonzalez De Aguilar, Jose-Luis; Duguez, Stephanie; Pradat, Pierre Francois; - view fewer (2022) Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12945. (In press).

Le Gall, L; Sidlauskaite, E; Mariot, V; Dumonceaux, J; (2020) Therapeutic Strategies Targeting DUX4 in FSHD. Journal of Clinical Medicine , 9 (9) , Article 2886. 10.3390/jcm9092886.

Le Guiner, C; Servais, L; Montus, M; Larcher, T; Fraysse, B; Moullec, S; Allais, M; ... Dickson, G; + view all Le Guiner, C; Servais, L; Montus, M; Larcher, T; Fraysse, B; Moullec, S; Allais, M; François, V; Dutilleul, M; Malerba, A; Koo, T; Thibaut, J-L; Matot, B; Devaux, M; Le Duff, J; Deschamps, J-Y; Barthelemy, I; Blot, S; Testault, I; Wahbi, K; Ederhy, S; Martin, S; Veron, P; Georger, C; Athanasopoulos, T; Masurier, C; Mingozzi, F; Carlier, P; Gjata, B; Hogrel, J-Y; Adjali, O; Mavilio, F; Voit, T; Moullier, P; Dickson, G; - view fewer (2017) Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nature Communications , 8 , Article 16105. 10.1038/ncomms16105.

Le Moing, A-G; Seferian, AM; Moraux, A; Annoussamy, M; Dorveaux, E; Gasnier, E; Hogrel, J-Y; ... Servais, L; + view all Le Moing, A-G; Seferian, AM; Moraux, A; Annoussamy, M; Dorveaux, E; Gasnier, E; Hogrel, J-Y; Voit, T; Vissière, D; Servais, L; - view fewer (2016) A Movement Monitor Based on MagnetoInertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment. PLoS One , 11 (6) , Article e0156696. 10.1371/journal.pone.0156696.

Lecce, F; Robertson, F; Rennie, A; Heuchan, A-M; Lister, P; Bhate, S; Bhattacharya, J; ... Ganesan, V; + view all Lecce, F; Robertson, F; Rennie, A; Heuchan, A-M; Lister, P; Bhate, S; Bhattacharya, J; Brew, S; Kanagarajah, L; Kucznynski, A; Peters, MJ; Ridout, D; Schmitt, A; Toolis, C; Vargha-Khadem, F; Ganesan, V; - view fewer (2018) Cross-sectional study of a UK cohort of neonatal vein of Galen malformation. Annals of Neurology , 84 (4) pp. 547-555. 10.1002/ana.25316.

Lee, KS; Zhang, JJY; Alamri, A; Chari, A; (2020) Neurosurgery Education in the Medical School Curriculum: A Scoping Review. World Neurosurgery , 144 e631-e642. 10.1016/j.wneu.2020.09.015.

Lee, Sunwoo; Ochoa, Eguzkine; Barwick, Katy; Cif, Laura; Rodger, Fay; Docquier, France; Pérez-Dueñas, Belén; ... Maher, Eamonn R; + view all Lee, Sunwoo; Ochoa, Eguzkine; Barwick, Katy; Cif, Laura; Rodger, Fay; Docquier, France; Pérez-Dueñas, Belén; Clark, Graeme; Martin, Ezequiel; Banka, Siddharth; Kurian, Manju A; Maher, Eamonn R; - view fewer (2022) Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics , 14 (9) pp. 537-547. 10.2217/epi-2021-0521.

Lee, PH; Anttila, V; Won, H; Feng, Y-CA; Rosenthal, J; Zhu, Z; Tucker-Drob, EM; ... Smoller, JW; + view all Lee, PH; Anttila, V; Won, H; Feng, Y-CA; Rosenthal, J; Zhu, Z; Tucker-Drob, EM; Nivard, MG; Grotzinger, AD; Posthuma, D; Wang, MM-J; Yu, D; Stahl, EA; Walters, R-MK; Anney, RJL; Duncan, LE; Ge, T; Adolfsson, R; Banaschewski, T; Belangero, S; Cook, EH; Coppola, G; Derks, EM; Hoekstra, PJ; Kaprio, J; Keski-Rahkonen, A; Kirov, G; Kranzler, HR; Luykx, JJ; Rohde, LA; Zai, CC; Agerbo, E; Arranz, MJ; Asherson, P; Baekvad-Hansen, M; Baldursson, G; Bellgrove, M; Belliveau, RA; Buitelaar, J; Burton, CL; Bybjerg-Grauholm, J; Casas, M; Cerrato, F; Chambert, K; Churchhouse, C; Gormand, B; Crosbie, J; Dalsgaard, S; Demontis, D; Doyle, AE; Dumont, A; Elia, J; Grove, J; Gudmundsson, OO; Haavik, J; Hakonarson, H; Hansen, CS; Hartman, CA; Hawi, Z; Hervas, A; Hougaard, DM; Howrigan, DP; Huang, H; Kuntsi, J; Langley, K; Lesch, K-P; Leung, PWL; Loo, SK; Martin, J; Martin, AR; McGough, JJ; Medland, SE; Moran, JL; Mors, O; Mortensen, PB; Oades, RD; Palmer, DS; Pedersen, CB; Pedersen, MG; Peters, T; Poterba, T; Poulsen, JB; Ramos-Quiroga, JA; Reif, A; Ribases, M; Rothenberger, A; Rovira, P; Sanchez-Mora, C; Satterstrom, FK; Schachar, R; Artigas, MS; Steinberg, S; Stefansson, H; Turley, P; Walters, GB; Werge, T; Zayats, T; Arking, DE; Bettella, F; Buxbaum, JD; Christensen, JH; Collins, RL; Coon, H; De Rubeis, S; Delorme, R; Grice, DE; Hansen, TF; Holmans, PA; Hope, S; Hultman, CM; Klei, L; Ladd-Acosta, C; Magnusson, P; NrIand, T; Nyegaard, M; Pinto, D; Qvist, P; Rehnstrom, K; Reichenberg, A; Reichert, J; Roeder, K; Rouleau, GA; Saemundsen, E; Sanders, SJ; Sandin, S; St Pourcain, B; Stefansson, K; Sutcliffe, JS; Talkowski, ME; Weiss, LA; Willsey, AJ; Agartz, I; Akil, H; Albani, D; Alda, M; Als, TD; Anjorin, A; Backlund, L; Bass, N; Bauer, M; Baune, BT; Bellivier, F; Bergen, SE; Berrettini, WH; Biernacka, JM; Blackwood, DHR; Boen, E; Budde, M; Bunney, W; Burmeister, M; Byerley, W; Byrne, EM; Cichon, S; Clarke, T-K; Coleman, JR; Craddock, N; Curtis, D; Czerski, PM; Dale, AM; Dalkner, N; Dannlowski, U; Degenhardt, F; Di Florio, A; Elvsashagen, T; Etain, B; Fischer, SB; Forstner, AJ; Forty, L; Frank, J; Frye, M; Fullerton, JM; Gade, K; Gaspar, HA; Gershon, ES; Gill, M; Goes, FS; Gordon, SD; Gordon-Smith, K; Green, MJ; Greenwood, TA; Grigoroiu-Serbanescu, M; Guzman-Parra, J; Hauser, J; Hautzinger, M; Heilbronner, U; Herms, S; Hoffmann, P; Holland, D; Jamain, S; Jones, I; Jones, LA; Kandaswamy, R; Kelsoe, JR; Kennedy, JL; Joachim, OK; Kittel-Schneider, S; Kogevinas, M; Koller, AC; Lavebratt, C; Lewis, CM; Li, QS; Lissowska, J; Loohuis, LMO; Lucae, S; Maaser, A; Malt, UF; Martin, NG; Martinsson, L; McElroy, SL; McMahon, FJ; McQuillin, A; Melle, I; Metspalu, A; Millischer, V; Mitchell, PB; Montgomery, GW; Morken, G; Morris, DW; Mueller-Myhsok, B; Mullins, N; Myers, RM; Nievergelt, CM; Nordentoft, M; Adolfsson, AN; Nothen, MM; Ophoff, RA; Owen, MJ; Paciga, SA; Pato, CN; Pato, MT; Perlis, RH; Perry, A; Potash, JB; Reinbold, CS; Rietschel, M; Rivera, M; Roberson, M; Schalling, M; Schofield, PR; Schulze, TG; Scott, LJ; Serretti, A; Sigurdsson, E; Smeland, OB; Stordal, E; Streit, F; Strohmaier, J; Thorgeirsson, TE; Treutlein, J; Turecki, G; Vaaler, AE; Vieta, E; Vincent, JB; Wang, Y; Witt, SH; Zandi, P; Adan, RAH; Alfredsson, L; Ando, T; Aschauer, H; Baker, JH; Bencko, V; Bergen, AW; Birgegard, A; Perica, VB; Brandt, H; Burghardt, R; Carlberg, L; Cassina, M; Clementi, M; Courtet, P; Crawford, S; Crow, S; Crowley, JJ; Danner, UN; Davis, OSP; Degortes, D; DeSocio, JE; Dick, DM; Dina, C; Docampo, E; Egberts, K; Ehrlich, S; Espeseth, T; Fernandez-Aranda, F; Fichter, MM; Foretova, L; Forzan, M; Gambaro, G; Giegling, I; Gonidakis, F; Gorwood, P; Mayora, MG; Guo, Y; Halmi, KA; Herpertz-Dahlmann; Herzog, W; Hinney, A; Imgart, H; Jimenez-Murcia, S; Johnson, C; Jordan, J; Julia, A; Kaminska, D; Karhunen, L; Karwautz, A; Kas, MJH; Kaye, WH; Kennedy, MA; Kim, Y-R; Klareskog, L; Klump, KL; Knudsen, GPS; Landen, M; Le Hellard, S; Levitan, RD; Li, D; Lichtenstein, P; Maj, M; Marsal, S; McDevitt, S; Mitchell, J; Monteleone, P; Monteleone, AM; Munn-Chernoff, MA; Nacmias, B; Navratilova, M; O'Toole, JK; Padyukov, L; Pantel, J; Papezova, H; Rabionet, R; Raevuori, A; Ramoz, N; Reichborn-Kjennerud, T; Ricca, V; Roberts, M; Rujescu, D; Rybakowski, F; Scherag, A; Schmidt, U; Seitz, J; Slachtova, L; Landt, MCTS-O; Slopien, A; Sorbi, S; Southam, L; Strober, M; Tortorella, A; Tozzi, F; Treasure, J; Tziouvas, K; van Elburg, AA; Wade, TD; Wagner, G; Walton, E; Watson, HJ; Wichmann, H-E; Woodside, DB; Zeggini, E; Zerwas, S; Zipfel, S; Adams, MJ; Andlauer, TFM; Berger, K; Binder, EB; Boomsma, D; Castelao, E; Colodro-Conde, L; Direk, N; Docherty, AR; Domenici, E; Domschke, K; Dunn, EC; Foo, JC; de Geus, EJC; Grabe, HJ; Hamilton, SP; Horn, C; Hottenga, J-J; Howard, D; Sing, M; Kloiber, S; Levinson, DF; Lewis, G; Magnusson, PKE; Mbarek, H; Middeldorp, CM; Mostafavi, S; Nyholt, DR; Penninx, BWJH; Peterson, RE; Pistis, G; Porteous, DJ; Preisig, M; Quiroz, JA; Schaefer, C; Schulte, EC; Shi, J; Smith, DJ; Thomson, PA; Tiemeier, H; Uher, R; van der Auwera, S; Weissman, MM; Alexander, M; Begemann, M; Bramon, E; Buccola, NG; Cairns, MJ; Campion, D; Carr, VJ; Cloninger, CR; Cohen, D; Collier, DA; Corvin, A; DeLisi, LE; Donohoe, G; Dudbridge, F; Duan, J; Freedman, R; Gejman, P; Golimbet, V; Godard, S; Ehrenreich, H; Hartmann, AM; Henskens, FA; Ikeda, M; Iwata, N; Jablensky, A; Joa, I; Jonsson, EG; Kelly, BJ; Knight, J; Konte, B; Laurent-Levinson, C; Lee, J; Lencz, T; Lerer, B; Loughland, CM; Malhotra, AK; Mallet, J; McDonald, C; Mitjans, M; Mowry, BJ; Murphy, KC; Murray, RM; O'Neill, FA; Oh, S-Y; Palotie, A; Pantelis, C; Pulver, AE; Petryshen, TL; Quested, DJ; Riley, B; Sanders, AR; Schall, U; Schwab, SG; Scott, RJ; Sham, PC; Silverman, JM; Sim, K; Steixner, AA; Tooney, PA; van Os, J; Vawter, MP; Walsh, D; Weiser, M; Wildenauer, DB; Williams, NM; Wormley, BK; Zhang, F; Androutsos, C; Arnold, PD; Barr, CL; Barta, C; Bey, K; Bienvenu, OJ; Black, DW; Brown, LW; Budman, C; Cath, D; Cheon, K-A; Ciullo, V; Coffey, BJ; Cusi, D; Davis, LK; Denys, D; Depienne, C; Dietrich, A; Eapen, V; Falkai, P; Fernandez, T; Garcia-Delgar, B; Geller, DA; Gilbert, DL; Grados, MA; Greenberg, E; Grunblatt, E; Hagstrom, J; Hanna, GL; Hartmann, A; Hedderly, T; Heiman, GA; Heyman, I; Hong, HJ; Huang, A; Huyser, C; Ibanez-Gomez, L; Khramtsova, EA; Kim, YK; Kim, Y-S; King, RA; Koh, Y-J; Konstantinidis, A; Kook, S; Kuperman, S; Leventhal, BL; Lochner, C; Ludolph, AG; Madruga-Garrido, M; Malaty, I; Maras, A; McCracken, JT; Meijer, IA; Mir, P; Morer, A; Mueller-Vahl, KR; Munchau, A; Murphy, TL; Naarden, A; Nagy, P; Nestadt, G; Nestadt, PS; Nicolini, H; Nurmi, EL; Okun, MS; Paschou, P; Piras, F; Piras, F; Pittenger, C; Plessen, KJ; Richter, MA; Rizzo, R; Robertson, M; Roessner, V; Ruhrmann, S; Samuels, JF; Sandor, P; Schlogelhofer, M; Shin, E-Y; Singer, H; Song, D-H; Song, J; Spalletta, G; Stein, DJ; Stewart, SE; Storch, EA; Stranger, B; Stuhrmann, M; Tarnok, Z; Tischfield, JA; Tubing, J; Visscher, F; Vulink, N; Wagner, M; Walitza, S; Wanderer, S; Woods, M; Worbe, Y; Zai, G; Zinner, SH; Sullivan, PF; Franke, B; Daly, MJ; Bulik, CM; McIntosh, AM; O'Donovan, MC; Zheutlin, A; Andreassen, OA; Borglum, AD; Breen, G; Edenberg, HJ; Fanous, AH; Faraone, S; Gelernter, J; Mathews, CA; Mattheisen, M; Mitchell, KS; Neale, MC; Nurnberger, J; Ripke, S; Santangelo, SL; Scharf, JM; Stein, MB; Thornton, LM; Walters, JTR; Wray, NR; Geschwind, DH; Neale, BM; Kendler, KS; Smoller, JW; - view fewer (2019) Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell , 179 (7) 1469-1482.e11. 10.1016/j.cell.2019.11.020.

Lee, YN; Frugoni, F; Dobbs, K; Tirosh, I; Du, L; Ververs, FA; Ru, H; ... Notarangelo, LD; + view all Lee, YN; Frugoni, F; Dobbs, K; Tirosh, I; Du, L; Ververs, FA; Ru, H; Ott de Bruin, L; Adeli, M; Bleesing, JH; Buchbinder, D; Butte, MJ; Cancrini, C; Chen, K; Choo, S; Elfeky, RA; Finocchi, A; Fuleihan, RL; Gennery, AR; El-Ghoneimy, DH; Henderson, LA; Al-Herz, W; Hossny, E; Nelson, RP; Pai, S-Y; Patel, NC; Reda, SM; Soler-Palacin, P; Somech, R; Palma, P; Wu, H; Giliani, S; Walter, JE; Notarangelo, LD; - view fewer (2016) Characterization of T and B cell repertoire diversity in patients with RAG deficiency. Sci Immunol , 1 (6) 10.1126/sciimmunol.aah6109.

Lehnen, D; Barral, S; Cardoso, T; Grealish, S; Heuer, A; Smiyakin, A; Kirkeby, A; ... Knoebel, S; + view all Lehnen, D; Barral, S; Cardoso, T; Grealish, S; Heuer, A; Smiyakin, A; Kirkeby, A; Kollet, J; Cremer, H; Parmar, M; Bosio, A; Knoebel, S; - view fewer (2017) IAP-Based Cell Sorting Results in Homogeneous Transplantable Dopaminergic Precursor Cells Derived from Human Pluripotent Stem Cells. Stem Cell Reports , 9 (4) pp. 1207-1220. 10.1016/j.stemcr.2017.08.016.

Lenaerts, L; Reynhout, S; Verbinnen, I; Laumonnier, F; Toutain, A; Bonnet-Brilhault, F; Hoorne, Y; ... Janssens, V; + view all Lenaerts, L; Reynhout, S; Verbinnen, I; Laumonnier, F; Toutain, A; Bonnet-Brilhault, F; Hoorne, Y; Joss, S; Chassevent, AK; Smith-Hicks, C; Loeys, B; Joset, P; Steindl, K; Rauch, A; Mehta, SG; Chung, WK; Devriendt, K; Holder, SE; Jewett, T; Baldwin, LM; Wilson, WG; Towner, S; Srivastava, S; Johnson, HF; Daumer-Haas, C; Baethmann, M; Ruiz, A; Gabau, E; Jain, V; Varghese, V; Al-Beshri, A; Fulton, S; Wechsberg, O; Orenstein, N; Prescott, K; Childs, A-M; Faivre, L; Moutton, S; Sullivan, JA; Shashi, V; Koudijs, SM; Heijligers, M; Kivuva, E; McTague, A; Male, A; van Ierland, Y; Plecko, B; Maystadt, I; Hamid, R; Hannig, VL; Houge, G; Janssens, V; - view fewer (2020) The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genetics in Medicine 10.1038/s41436-020-00981-2. (In press).

Lepelley, A; Della Mina, E; Van Nieuwenhove, E; Waumans, L; Fraitag, S; Rice, GI; Dhir, A; ... Crow, YJ; + view all Lepelley, A; Della Mina, E; Van Nieuwenhove, E; Waumans, L; Fraitag, S; Rice, GI; Dhir, A; Frémond, ML; Rodero, MP; Seabra, L; Carter, E; Bodemer, C; Buhas, D; Callewaert, B; de Lonlay, P; De Somer, L; Dyment, DA; Faes, F; Grove, L; Holden, S; Hully, M; Kurian, MA; McMillan, HJ; Suetens, K; Tyynismaa, H; Chhun, S; Wai, T; Wouters, C; Bader-Meunier, B; Crow, YJ; - view fewer (2021) Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A. The Journal of experimental medicine , 218 (10) , Article e20201560. 10.1084/jem.20201560.

Leu, C; Balestrini, S; Maher, B; Hernández-Hernández, L; Gormley, P; Hämäläinen, E; Heggeli, K; ... Sisodiya, SM; + view all Leu, C; Balestrini, S; Maher, B; Hernández-Hernández, L; Gormley, P; Hämäläinen, E; Heggeli, K; Schoeler, N; Novy, J; Willis, J; Plagnol, V; Ellis, R; Reavey, E; O'Regan, M; Pickrell, WO; Thomas, RH; Chung, SK; Delanty, N; McMahon, JM; Malone, S; Sadleir, LG; Berkovic, SF; Nashef, L; Zuberi, SM; Rees, MI; Cavalleri, GL; Sander, JW; Hughes, E; Helen Cross, J; Scheffer, IE; Palotie, A; Sisodiya, SM; - view fewer (2015) Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine , 2 (9) pp. 1063-1070. 10.1016/j.ebiom.2015.07.005.

Lewis, C; Simcock, IC; Arthurs, OJ; (2021) Improving uptake of perinatal autopsy. Current Opinion in Obstetrics and Gynecology , 33 (2) pp. 129-134. 10.1097/GCO.0000000000000691.

Lewis, C; Hill, M; Arthurs, OJ; Hutchinson, C; Chitty, LS; Sebire, N; (2018) Factors Affecting Uptake of Postmortem Examination in the Prenatal, Perinatal and Paediatric Setting; a Systematic Review. BJOG: An International Journal of Obstetrics and Gynaecology , 125 (2) pp. 172-181. 10.1111/1471-0528.14600.

Lewis, C; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Sebire, N; (2018) Health professionals’ and coroners’ views on less invasive perinatal and paediatric autopsy: a qualitative study. Archives of Disease in Childhood , 103 (6) pp. 572-578. 10.1136/archdischild-2017-314424.

Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; ... Sebire, NJ; + view all Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; Doré, CJ; Chitty, LS; Sebire, NJ; - view fewer (2019) Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. Health Technology Assessment , 23 (46) 10.3310/hta23460.

Lewis, C; Latif, Z; Hill, M; Riddington, M; Lakhanpaul, M; Arthurs, OJ; Hutchinson, JC; ... Sebire, NJ; + view all Lewis, C; Latif, Z; Hill, M; Riddington, M; Lakhanpaul, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Sebire, NJ; - view fewer (2018) "We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy. PLoS One , 13 (8) , Article e0202023. 10.1371/journal.pone.0202023.

Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; ... Sebire, NJ; + view all Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; Fisher, J; Ward, J; Sebire, NJ; - view fewer (2019) Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents. BJOG: An International Journal of Obstetrics & Gynaecology , 126 (6) pp. 745-753. 10.1111/1471-0528.15591.

Lewis, C; Riddington, M; Hill, M; Bevan, C; Fisher, J; Lyas, L; Chalmers, A; ... Sebire, N; + view all Lewis, C; Riddington, M; Hill, M; Bevan, C; Fisher, J; Lyas, L; Chalmers, A; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Sebire, N; - view fewer (2019) "The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination. Prenatal Diagnosis , 39 (13) pp. 1242-1253. 10.1002/pd.5575.

Li, Shengnan; (2020) A pain behavioural study of three novel mouse knockout models for Scn9a NAT, Gm765 and Tmem233. Doctoral thesis (Ph.D), UCL (University College London).

Li, Y-F; Scerif, F; Picker, SR; Stone, TJ; Pickles, JC; Moulding, DA; Avery, A; ... Jacques, TS; + view all Li, Y-F; Scerif, F; Picker, SR; Stone, TJ; Pickles, JC; Moulding, DA; Avery, A; Virasami, A; Fairchild, AR; Tisdall, M; Harkness, W; Cross, JH; Hargrave, D; Guillemot, F; Paine, S; Yasin, SA; Jacques, TS; - view fewer (2021) Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis. Neuropathology and Applied Neurobiology , 47 (6) pp. 781-795. 10.1111/nan.12715.

Li, C; Wang, S; Liu, P; Torheim, T; Boonzaier, NR; van Dijken, BR; Schönlieb, C-B; ... Price, SJ; + view all Li, C; Wang, S; Liu, P; Torheim, T; Boonzaier, NR; van Dijken, BR; Schönlieb, C-B; Markowetz, F; Price, SJ; - view fewer (2019) Decoding the Interdependence of Multiparametric Magnetic Resonance Imaging to Reveal Patient Subgroups Correlated with Survivals. Neoplasia , 21 (5) pp. 442-449. 10.1016/j.neo.2019.03.005.

Li, C; Wang, S; Serra, A; Torheim, T; Yan, J-L; Boonzaier, NR; Huang, Y; ... Price, SJ; + view all Li, C; Wang, S; Serra, A; Torheim, T; Yan, J-L; Boonzaier, NR; Huang, Y; Matys, T; McLean, MA; Markowetz, F; Price, SJ; - view fewer (2019) Multi-parametric and multi-regional histogram analysis of MRI: modality integration reveals imaging phenotypes of glioblastoma. European Radiology 10.1007/s00330-018-5984-z. (In press).

Li, C; Wang, S; Yan, J-L; Piper, RJ; Liu, H; Torheim, T; Kim, H; ... Price, SJ; + view all Li, C; Wang, S; Yan, J-L; Piper, RJ; Liu, H; Torheim, T; Kim, H; Zou, J; Boonzaier, NR; Sinha, R; Matys, T; Markowetz, F; Price, SJ; - view fewer (2018) Intratumoral Heterogeneity of Glioblastoma Infiltration Revealed by Joint Histogram Analysis of Diffusion Tensor Imaging. Neurosurgery , Article nyy388. 10.1093/neuros/nyy388. (In press).

Li, C; Wang, S; Yan, J-L; Torheim, T; Boonzaier, NR; Sinha, R; Matys, T; ... Price, SJ; + view all Li, C; Wang, S; Yan, J-L; Torheim, T; Boonzaier, NR; Sinha, R; Matys, T; Markowetz, F; Price, SJ; - view fewer (2020) Characterizing tumor invasiveness of glioblastoma using multiparametric magnetic resonance imaging. Journal of Neurosurgery , 132 (5) pp. 1465-1472. 10.3171/2018.12.JNS182926.

Li, C; Yan, JL; Torheim, T; McLean, MA; Boonzaier, NR; Zou, J; Huang, Y; ... Price, SJ; + view all Li, C; Yan, JL; Torheim, T; McLean, MA; Boonzaier, NR; Zou, J; Huang, Y; Yuan, J; van Dijken, BRJ; Matys, T; Markowetz, F; Price, SJ; - view fewer (2019) Low perfusion compartments in glioblastoma quantified by advanced magnetic resonance imaging and correlated with patient survival. Radiotherapy and Oncology , 134 pp. 17-24. 10.1016/j.radonc.2019.01.008.

Liégeois, F; (2017) Neurobiology of developmental coordination disorder: time to raise our game. [Editorial comment]. Dev Med Child Neurol , 59 (11) p. 1103. 10.1111/dmcn.13539.

Liégeois, F; Mayes, A; Morgan, A; (2014) Neural Correlates of Developmental Speech and Language Disorders: Evidence from Neuroimaging. Curr Dev Disord Rep , 1 (3) 215 - 227. 10.1007/s40474-014-0019-1.

Liégeois, F; Tournier, JD; Pigdon, L; Connelly, A; Morgan, AT; (2013) Corticobulbar tract changes as predictors of dysarthria in childhood brain injury. Neurology , 80 (10) 926 - 932. 10.1212/WNL.0b013e3182840c6d.

Liegeois, FJ; Butler, J; Morgan, AT; Clayden, JD; Clark, CA; (2016) Anatomy and lateralization of the human corticobulbar tracts: an fMRI-guided tractography study. Brain Structure and Function , 221 (6) pp. 3337-3345. 10.1007/s00429-015-1104-x.

Liegeois, FJ; Hildebrand, MS; Bonthrone, A; Turner, SJ; Scheffer, IE; Bahlo, M; Connelly, A; Liegeois, FJ; Hildebrand, MS; Bonthrone, A; Turner, SJ; Scheffer, IE; Bahlo, M; Connelly, A; Morgan, AT; - view fewer (2016) Early neuroimaging markers of FOXP2 intragenic deletion. Scientific Reports , 6 , Article ARTN 351. 10.1038/srep35192.

Liégeois, FJ; Mahony, K; Connelly, A; Tournier, J-D; Pigdon, L; Morgan, AT; (2013) Pediatric traumatic brain injury: Language outcomes and their relationship to the arcuate fasciculus. Brain and Language , 127 (3) 388 - 398. 10.1016/j.bandl.2013.05.003.

Liegeois, FJ; Mei, C; Pigdon, L; Lee, KJ; Stojanowski, B; Mackay, M; Morgan, A; (2019) Speech and language impairments after childhood arterial ischemic stroke: does hemisphere matter? Pediatric Neurology , 92 pp. 55-59. 10.1016/j.pediatrneurol.2018.11.006.

Liégeois, FJ; Turner, SJ; Mayes, A; Bonthrone, AF; Boys, A; Smith, L; Parry-Fielder, B; ... Morgan, AT; + view all Liégeois, FJ; Turner, SJ; Mayes, A; Bonthrone, AF; Boys, A; Smith, L; Parry-Fielder, B; Mandelstam, S; Spencer-Smith, M; Bahlo, M; Scerri, TS; Hildebrand, MS; Scheffer, IE; Connelly, A; Morgan, AT; - view fewer (2019) Dorsal language stream anomalies in an inherited speech disorder. Brain , 142 (4) pp. 966-977. 10.1093/brain/awz018.

Lilien, C; Reyngoudt, H; Seferian, AM; Gidaro, T; Annoussamy, M; Che, V; Decostre, V; ... Servais, L; + view all Lilien, C; Reyngoudt, H; Seferian, AM; Gidaro, T; Annoussamy, M; Che, V; Decostre, V; Ledoux, I; Le Louer, J; Guemas, E; Muntoni, F; Hogrel, J-Y; Carlier, PG; Servais, L; - view fewer (2021) Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.51417. (In press).

Lim, ST; Thijs, V; Murphy, SJX; Fernandez-Cadenas, I; Montaner, J; Offiah, C; Marquardt, L; ... McCabe, DJH; + view all Lim, ST; Thijs, V; Murphy, SJX; Fernandez-Cadenas, I; Montaner, J; Offiah, C; Marquardt, L; Kelly, PJ; Bath, PM; Lim, S-Y; Ford, GA; Norrving, B; Cox, D; Prodan, CI; Barber, PA; Werring, DJ; Perry, R; Zgaga, L; Dawson, J; McCabe, DJH; - view fewer (2020) Platelet function/reactivity testing and prediction of risk of recurrent vascular events and outcomes after TIA or ischaemic stroke: systematic review and meta-analysis. Journal of Neurology , 267 pp. 3021-3037. 10.1007/s00415-020-09932-y.

Lin, H; van Setten, J; Smith, AV; Bihlmeyer, NA; Warren, HR; Brody, JA; Radmanesh, F; ... Isaacs, A; + view all Lin, H; van Setten, J; Smith, AV; Bihlmeyer, NA; Warren, HR; Brody, JA; Radmanesh, F; Hall, L; Grarup, N; Mueller-Nurasyid, M; Boutin, T; Verweij, N; Lin, HJ; Li-Gao, R; van den Berg, ME; Marten, J; Weiss, S; Prins, BP; Haessler, J; Lyytikainen, L-P; Mei, H; Harris, TB; Launer, LJ; Li, M; Alonso, A; Soliman, EZ; Connell, JM; Huang, PL; Weng, L-C; Jameson, HS; Hucker, W; Hanley, A; Tucker, NR; Chen, Y-DI; Bis, JC; Rice, KM; Sitlani, CM; Kors, JA; Xie, Z; Wen, C; Magnani, JW; Nelson, CP; Kanters, JK; Sinner, MF; Strauch, K; Peters, A; Waldenberger, M; Meitinger, T; Bork-Jensen, J; Pedersen, O; Linneberg, A; Rudan, I; de Boer, RA; van der Meer, P; Yao, J; Guo, X; Taylor, KD; Sotoodehnia, N; Rotter, JI; Mook-Kanamori, DO; Trompet, S; Rivadeneira, F; Uitterlinden, A; Eijgelsheim, M; Padmanabhan, S; Smith, BH; Volzke, H; Mangino, M; Spector, TD; Bots, ML; Perez, M; Kahonen, M; Raitakari, OT; Gudnason, V; Arking, DE; Munroe, PB; Psaty, BM; van Duijn, CM; Benjamin, EJ; Rosand, J; Samani, NJ; Hansen, T; Kaeaeb, S; Polasek, O; van der Harst, P; Heckbert, SR; Jukema, JW; Stricker, BH; Hayward, C; Doerr, M; Jamshidi, Y; Asselbergs, FW; Kooperberg, C; Lehtimaki, T; Wilson, JG; Ellinor, PT; Lubitz, SA; Isaacs, A; - view fewer (2018) Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval. Circulation: Genomic and Precision Medicine , 11 (5) , Article e002037. 10.1161/CIRCGEN.117.002037.

Liu, Qin; de Haan, Michelle; Chant, Kathy; Day, Kayleigh Lauren; Lavander-Ferreira, Mérari Jizar; Marlow, Neil; Suarez-Rivera, Catalina; (2025) A Longitudinal Study of Preterm Infants at 12 and 30 Months: Links Among Object Interactions, Joint Engagement, and Cognitive Development. Infancy , 30 (2) , Article e70016. 10.1111/infa.70016.

Ljimani, A; Caroli, A; Laustsen, C; Francis, S; Mendichovszky, IA; Bane, O; Nery, F; ... Sigmund, EE; + view all Ljimani, A; Caroli, A; Laustsen, C; Francis, S; Mendichovszky, IA; Bane, O; Nery, F; Sharma, K; Pohlmann, A; Dekkers, IA; Vallee, J-P; Derlin, K; Notohamiprodjo, M; Lim, RP; Palmucci, S; Serai, SD; Periquito, J; Wang, ZJ; Froeling, M; Thoeny, HC; Prasad, P; Schneider, M; Niendorf, T; Pullens, P; Sourbron, S; Sigmund, EE; - view fewer (2020) Consensus-based technical recommendations for clinical translation of renal diffusion-weighted MRI. Magnetic Resonance Materials in Physics, Biology and Medicine , 33 pp. 177-195. 10.1007/s10334-019-00790-y.

Lochmüller, H; Evans, D; Farwell, W; Finkel, R; Goemans, N; de Lemus, M; Matyushenko, V; ... Wilson, P; + view all Lochmüller, H; Evans, D; Farwell, W; Finkel, R; Goemans, N; de Lemus, M; Matyushenko, V; Muntoni, F; Ouillade, M-C; Schwersenz, I; Wilson, P; - view fewer (2018) Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. Journal of Neuromuscular Diseases , 5 (2) pp. 131-133. 10.3233/JND-180325.

Logan, CV; Szabadkai, G; Sharpe, JA; Parry, DA; Torelli, S; Childs, AM; Kriek, M; ... Sheridan, E; + view all Logan, CV; Szabadkai, G; Sharpe, JA; Parry, DA; Torelli, S; Childs, AM; Kriek, M; Phadke, R; Johnson, CA; Roberts, NY; Bonthron, DT; Pysden, KA; Whyte, T; Munteanu, I; Foley, AR; Wheway, G; Szymanska, K; Natarajan, S; Abdelhamed, ZA; Morgan, JE; Roper, H; Santen, GW; Niks, EH; van der Pol, WL; Lindhout, D; Raffaello, A; De Stefani, D; den Dunnen, JT; Sun, Y; Ginjaar, I; Sewry, CA; Hurles, M; Rizzuto, R; UK10K Consortium; Duchen, MR; Muntoni, F; Sheridan, E; - view fewer (2014) Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nature Genetics , 46 (2) pp. 188-193. 10.1038/ng.2851.

Lohezic, M; Teh, I; Bollensdorff, C; Peyronnet, Rémi ; Hales, P; Grau, V; Kohl, P; Lohezic, M; Teh, I; Bollensdorff, C; Peyronnet, Rémi ; Hales, P; Grau, V; Kohl, P; Schneider, JE; - view fewer (2014) Interrogation of living myocardium in multiple static deformation states with diffusion tensor and diffusion spectrum imaging. Prog Biophys Mol Biol , 115 (2-3) pp. 213-225. 10.1016/j.pbiomolbio.2014.08.002.

LoMauro, A; Aliverti, A; Mastella, C; Arnoldi, MT; Banfi, P; Baranello, G; (2016) Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA). PLoS One , 11 (11) , Article e0165818. 10.1371/journal.pone.0165818.

LoMauro, A; Banfi, P; Mastella, C; Alberti, K; Baranello, G; Aliverti, A; (2018) A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children. Frontiers in Neurology , 9 , Article 703. 10.3389/fneur.2018.00703.

LoMauro, A; Mastella, C; Alberti, K; Masson, R; Aliverti, A; Baranello, G; (2019) Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy. American Journal of Respiratory and Critical Care Medicine , 200 (12) pp. 1547-1550. 10.1164/rccm.201906-1175LE.

Lopez, RJ; Byrne, S; Vukcevic, M; Sekulic-Jablanovic, M; Xu, L; Brink, M; Alamelu, J; ... Jungbluth, H; + view all Lopez, RJ; Byrne, S; Vukcevic, M; Sekulic-Jablanovic, M; Xu, L; Brink, M; Alamelu, J; Voermans, N; Snoeck, M; Clement, E; Muntoni, F; Zhou, H; Radunovic, A; Mohammed, S; Wraige, E; Zorzato, F; Treves, S; Jungbluth, H; - view fewer (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling , 9 (435) , Article ra68. 10.1126/scisignal.aad9813.

Lorentzos, MS; Heyman, I; Baig, BJ; Coughtrey, AE; McWilliams, A; Dossetor, DR; Waugh, M-C; ... Dale, RC; + view all Lorentzos, MS; Heyman, I; Baig, BJ; Coughtrey, AE; McWilliams, A; Dossetor, DR; Waugh, M-C; Evans, RA; Hollywood, J; Burns, J; Menezes, MP; Mohammad, SS; Grattan-Smith, P; Gorman, KM; Crowe, BHA; Goodman, R; Kurian, MA; Dale, RC; - view fewer (2020) Psychiatric comorbidity is common in dystonia and other movement disorders. Archives of Disease in Childhood 10.1136/archdischild-2020-319541. (In press).

Lorio, S; Adler, S; Gunny, R; D'Arco, F; Kaden, E; Wagstyl, K; Jacques, TS; ... Carmichael, DW; + view all Lorio, S; Adler, S; Gunny, R; D'Arco, F; Kaden, E; Wagstyl, K; Jacques, TS; Clark, CA; Cross, JH; Baldeweg, T; Carmichael, DW; - view fewer (2020) MRI profiling of focal cortical dysplasia using multi-compartment diffusion models. Epilepsia 10.1111/epi.16451. (In press).

Lorio, S; Fresard, S; Adaszewski, S; Kherif, F; Chowdhury, R; Frackowiak, RS; Ashburner, J; ... Draganski, B; + view all Lorio, S; Fresard, S; Adaszewski, S; Kherif, F; Chowdhury, R; Frackowiak, RS; Ashburner, J; Helms, G; Weiskopf, N; Lutti, A; Draganski, B; - view fewer (2016) New tissue priors for improved automated classification of subcortical brain structures on MRI. Neuroimage , 130 pp. 157-166. 10.1016/j.neuroimage.2016.01.062.

Lorio, S; Kherif, F; Ruef, A; Melie-Garcia, L; Frackowiak, R; Ashburner, J; Helms, G; ... Draganski, B; + view all Lorio, S; Kherif, F; Ruef, A; Melie-Garcia, L; Frackowiak, R; Ashburner, J; Helms, G; Lutti, A; Draganski, B; - view fewer (2016) Neurobiological origin of spurious brain morphological changes: A quantitative MRI study. Human Brain Mapping , 37 (5) pp. 1801-1815. 10.1002/hbm.23137.

Lorio, S; Lutti, A; Kherif, F; Ruef, A; Dukart, J; Chowdhury, R; Frackowiak, RS; ... Draganski, B; + view all Lorio, S; Lutti, A; Kherif, F; Ruef, A; Dukart, J; Chowdhury, R; Frackowiak, RS; Ashburner, J; Helms, G; Weiskopf, N; Draganski, B; - view fewer (2014) Disentangling in vivo the effects of iron content and atrophy on the ageing human brain. Neuroimage , 103C 280 - 289. 10.1016/j.neuroimage.2014.09.044.

Lorio, S; Sedlacik, J; So, P-W; Parkes, HG; Gunny, R; Löbel, U; Li, Y-F; ... Carmichael, DW; + view all Lorio, S; Sedlacik, J; So, P-W; Parkes, HG; Gunny, R; Löbel, U; Li, Y-F; Ogunbiyi, O; Mistry, T; Dixon, E; Adler, S; Cross, JH; Baldeweg, T; Jacques, TS; Shmueli, K; Carmichael, DW; - view fewer (2021) Quantitative MRI susceptibility mapping reveals cortical signatures of changes in iron, calcium and zinc in malformations of cortical development in children with drug-resistant epilepsy. Neuroimage , 238 , Article 118102. 10.1016/j.neuroimage.2021.118102.

Lorio, S; Tierney, TM; McDowell, A; Arthurs, OJ; Lutti, A; Weiskopf, N; Carmichael, DW; (2019) Flexible proton density (PD) mapping using multi-contrast variable flip angle (VFA) data. Neuroimage , 186 pp. 464-475. 10.1016/j.neuroimage.2018.11.023. (In press).

Lourbakos, A; Yau, N; de Bruijn, P; Hiller, M; Kozaczynska, K; Jean-Baptiste, R; Reza, M; ... Spitali, P; + view all Lourbakos, A; Yau, N; de Bruijn, P; Hiller, M; Kozaczynska, K; Jean-Baptiste, R; Reza, M; Wolterbeek, R; Koeks, Z; Ayoglu, B; de Klerk, D; Campion, G; Zaharieva, I; Nadarajah, VD; Nilsson, P; Al-Khalili Szigyarto, C; Muntoni, F; Lochmüller, H; Verschuuren, JJ; Goemans, N; Tulinius, M; Niks, EH; de Kimpe, S; Aartsma-Rus, A; 't Hoen, PAC; Spitali, P; - view fewer (2017) Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Scientific Reports , 7 , Article 17888. 10.1038/s41598-017-17982-y.

Lu, S; Champion, H; Mills, N; Simpson, Z; Whiteley, VJ; Schoeler, NE; (2023) Impact of ketogenic diet therapy on growth in children with epilepsy. Epilepsy Research , 190 , Article 107076. 10.1016/j.eplepsyres.2023.107076.

Lyons, L; Schoeler, NE; Langan, D; Cross, JH; (2020) Use of ketogenic diet therapy in infants with epilepsy: A systematic review and meta-analysis. Epilepsia 10.1111/epi.16543. (In press).

M

MacCannell, Drew; Berger, Zdenek; Kirschner, Janbernd; Mercuri, Eugenio; Farrar, Michelle A; Iannaccone, Susan T; Kuntz, Nancy L; ... Muntoni, Francesco; + view all MacCannell, Drew; Berger, Zdenek; Kirschner, Janbernd; Mercuri, Eugenio; Farrar, Michelle A; Iannaccone, Susan T; Kuntz, Nancy L; Finkel, Richard S; Valente, Marta; Muntoni, Francesco; - view fewer (2022) Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model. CNS Drugs , 36 (2) pp. 181-190. 10.1007/s40263-022-00899-0.

MacCannell, D; Berger, Z; East, L; Mercuri, E; Kirschner, J; Muntoni, F; Farrar, MA; ... Finkel, RS; + view all MacCannell, D; Berger, Z; East, L; Mercuri, E; Kirschner, J; Muntoni, F; Farrar, MA; Peng, J; Zhou, J; Nestorov, I; Farwell, W; Finkel, RS; - view fewer (2021) Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen. Neuromuscular Disorders , 31 (4) pp. 310-318. 10.1016/j.nmd.2021.02.014.

MacLennan, AH; Lewis, S; Moreno-De-Luca, A; Fahey, M; Leventer, RJ; McIntyre, S; Ben-Pazi, H; ... Gecz, J; + view all MacLennan, AH; Lewis, S; Moreno-De-Luca, A; Fahey, M; Leventer, RJ; McIntyre, S; Ben-Pazi, H; Corbett, M; Wang, X; Baynam, G; Fehlings, D; Kurian, MA; Zhu, C; Himmelmann, K; Smithers-Sheedy, H; Wilson, Y; Ocaña, CS; Van Eyk, C; Badawi, N; Wintle, RF; Jacobsson, B; Amor, DJ; Mallard, C; Pérez-Jurado, LA; Hallman, M; Rosenbaum, PJ; Kruer, MC; Gecz, J; - view fewer (2019) Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. Journal of Child Neurology , 34 (8) 472 -476. 10.1177/0883073819840449.

Macrae, Emma; Milosavljevic, Bosiljka; Katus, Laura; Mason, Luke; Amado, Marta Perapoch; Rozhko, Maria; De Haan, Michelle; ... Lloyd-Fox, Sarah; + view all Macrae, Emma; Milosavljevic, Bosiljka; Katus, Laura; Mason, Luke; Amado, Marta Perapoch; Rozhko, Maria; De Haan, Michelle; Elwell, Clare E; Moore, Sophie E; Lloyd-Fox, Sarah; - view fewer (2024) Cognitive control in infancy: Attentional predictors using a tablet-based measure. Infancy 10.1111/infa.12599. (In press).

Maier-Hein, KH; Neher, PF; Houde, JC; Côté, MA; Garyfallidis, E; Zhong, J; Chamberland, M; ... Descoteaux, M; + view all Maier-Hein, KH; Neher, PF; Houde, JC; Côté, MA; Garyfallidis, E; Zhong, J; Chamberland, M; Yeh, FC; Lin, YC; Ji, Q; Reddick, WE; Glass, JO; Chen, DQ; Feng, Y; Gao, C; Wu, Y; Ma, J; Renjie, H; Li, Q; Westin, CF; Deslauriers-Gauthier, S; González, JOO; Paquette, M; St-Jean, S; Girard, G; Rheault, F; Sidhu, J; Tax, CMW; Guo, F; Mesri, HY; Dávid, S; Froeling, M; Heemskerk, AM; Leemans, A; Boré, A; Pinsard, B; Bedetti, C; Desrosiers, M; Brambati, S; Doyon, J; Sarica, A; Vasta, R; Cerasa, A; Quattrone, A; Yeatman, J; Khan, AR; Hodges, W; Alexander, S; Romascano, D; Barakovic, M; Auría, A; Esteban, O; Lemkaddem, A; Thiran, JP; Cetingul, HE; Odry, BL; Mailhe, B; Nadar, MS; Pizzagalli, F; Prasad, G; Villalon-Reina, JE; Galvis, J; Thompson, PM; Requejo, FDS; Laguna, PL; Lacerda, LM; Barrett, R; Dell'Acqua, F; Catani, M; Petit, L; Caruyer, E; Daducci, A; Dyrby, TB; Holland-Letz, T; Hilgetag, CC; Stieltjes, B; Descoteaux, M; - view fewer (2017) The challenge of mapping the human connectome based on diffusion tractography. Nature Communications , 8 , Article 1349. 10.1038/s41467-017-01285-x.

Maitland, K; Newton, C; (2005) Volume status in severe malaria (letter). PLoS Medicine , 2 (1) , Article e27. 10.1371/journal.pmed.0020027.

Makani, J; Cox, SE; Soka, D; Komba, AN; Oruo, J; Mwamtemi, H; Magesa, P; ... Newton, CR; + view all Makani, J; Cox, SE; Soka, D; Komba, AN; Oruo, J; Mwamtemi, H; Magesa, P; Rwezaula, S; Meda, E; Mgaya, J; Lowe, B; Muturi, D; Roberts, DJ; Williams, TN; Pallangyo, K; Kitundu, J; Fegan, G; Kirkham, FJ; Marsh, K; Newton, CR; - view fewer (2011) Mortality in Sickle Cell Anemia in Africa: A Prospective Cohort Study in Tanzania. PLOS ONE , 6 (2) , Article e14699. 10.1371/journal.pone.0014699.

Makani, J; Tluway, F; Makubi, A; Soka, D; Nkya, S; Sangeda, R; Mgaya, J; ... Mmbando, BP; + view all Makani, J; Tluway, F; Makubi, A; Soka, D; Nkya, S; Sangeda, R; Mgaya, J; Rwezaula, S; Kirkham, FJ; Kindole, C; Osati, E; Meda, E; Snow, RW; Newton, CR; Roberts, D; Aboud, M; Thein, SL; Cox, SE; Luzzatto, L; Mmbando, BP; - view fewer (2018) A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania. BMC Hematology , 18 (33) 10.1186/s12878-018-0125-0.

Man, K; Lau, WCY; Coghill, D; Besag, FMC; Cross, JH; Ip, P; Wong, ICK; (2020) Association between methylphenidate treatment and risk of seizure: A population-based self-controlled case series study. The Lancet Child & Adolescent Health , 4 (6) pp. 435-443. 10.1016/S2352-4642(20)30100-0.

Maneas, E; Aughwane, R; Huynh, N; Xia, W; Ansari, R; Kuniyil Ajith Singh, M; Hutchinson, JC; ... Desjardins, AE; + view all Maneas, E; Aughwane, R; Huynh, N; Xia, W; Ansari, R; Kuniyil Ajith Singh, M; Hutchinson, JC; Sebire, NJ; Arthurs, OJ; Deprest, J; Ourselin, S; Beard, PC; Melbourne, A; Vercauteren, T; David, AL; Desjardins, AE; - view fewer (2019) Photoacoustic imaging of the human placental vasculature. Journal of Biophotonics , 13 (4) pp. 1214-1229. 10.1002/jbio.201900167.

Manole, A; Efthymiou, S; O'Connor, E; Mendes, MI; Jennings, M; Maroofian, R; Davagnanam, I; ... Houlden, H; + view all Manole, A; Efthymiou, S; O'Connor, E; Mendes, MI; Jennings, M; Maroofian, R; Davagnanam, I; Mankad, K; Lopez, MR; Salpietro, V; Harripaul, R; Badalato, L; Walia, J; Francklyn, CS; Athanasiou-Fragkouli, A; Sullivan, R; Desai, S; Baranano, K; Zafar, F; Rana, N; Ilyas, M; Horga, A; Kara, M; Mattioli, F; Goldenberg, A; Griffin, H; Piton, A; Henderson, LB; Kara, B; Aslanger, AD; Raaphorst, J; Pfundt, R; Portier, R; Shinawi, M; Kirby, A; Christensen, KM; Wang, L; Rosti, RO; Paracha, SA; Sarwar, MT; Jenkins, D; SYNAPS Study Group, .; Ahmed, J; Santoni, FA; Ranza, E; Iwaszkiewicz, J; Cytrynbaum, C; Weksberg, R; Wentzensen, IM; Guillen Sacoto, MJ; Si, Y; Telegrafi, A; Andrews, MV; Baldridge, D; Gabriel, H; Mohr, J; Oehl-Jaschkowitz, B; Debard, S; Senger, B; Fischer, F; van Ravenwaaij, C; Fock, AJM; Stevens, SJC; Bähler, J; Nasar, A; Mantovani, JF; Manzur, A; Sarkozy, A; Smith, DEC; Salomons, GS; Ahmed, ZM; Riazuddin, S; Riazuddin, S; Usmani, MA; Seibt, A; Ansar, M; Antonarakis, SE; Vincent, JB; Ayub, M; Grimmel, M; Jelsig, AM; Hjortshøj, TD; Karstensen, HG; Hummel, M; Haack, TB; Jamshidi, Y; Distelmaier, F; Horvath, R; Gleeson, JG; Becker, H; Mandel, J-L; Koolen, DA; Houlden, H; - view fewer (2020) De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics , 107 (2) pp. 311-324. 10.1016/j.ajhg.2020.06.016.

Manole, A; Jaunmuktane, Z; Hargreaves, I; Ludtmann, MHR; Salpietro, V; Bello, OD; Pope, S; ... Houlden, H; + view all Manole, A; Jaunmuktane, Z; Hargreaves, I; Ludtmann, MHR; Salpietro, V; Bello, OD; Pope, S; Pandraud, A; Horga, A; Scalco, RS; Li, A; Ashokkumar, B; Lourenço, CM; Heales, S; Horvath, R; Chinnery, PF; Toro, C; Singleton, AB; Jacques, TS; Abramov, AY; Muntoni, F; Hanna, MG; Reilly, MM; Revesz, T; Kullmann, DM; Jepson, JEC; Houlden, H; - view fewer (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain , 140 (11) pp. 2820-2837. 10.1093/brain/awx231.

Mapplebeck, JCS; Beggs, S; Salter, MW; (2017) Molecules in pain and sex: a developing story. Molecular Brain , 10 , Article 9. 10.1186/s13041-017-0289-8.

Marchet, S; Invernizzi, F; Blasevich, F; Bruno, V; Dusi, S; Venco, P; Fiorillo, C; ... Lamperti, C; + view all Marchet, S; Invernizzi, F; Blasevich, F; Bruno, V; Dusi, S; Venco, P; Fiorillo, C; Baranello, G; Pallotti, F; Lamantea, E; Mora, M; Tiranti, V; Lamperti, C; - view fewer (2019) Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion , 47 pp. 24-29. 10.1016/j.mito.2019.04.002.

Marcus, HJ; Bennett, A; Chari, A; Day, T; Hirst, A; Hughes-Hallett, A; Kolias, A; ... McCulloch, P; + view all Marcus, HJ; Bennett, A; Chari, A; Day, T; Hirst, A; Hughes-Hallett, A; Kolias, A; Kwasnicki, RM; Martin, J; Rovers, M; Squire, SE; McCulloch, P; - view fewer (2022) IDEAL-D Framework for Device Innovation: A Consensus Statement on the Preclinical Stage. Annals of Surgery , 275 (1) pp. 73-79. 10.1097/SLA.0000000000004907.

Marcus, HJ; Rasul, FT; Hussein, Z; Baldeweg, SE; Spoudeas, HA; Hayward, R; Jeelani, NUO; ... Aquilina, K; + view all Marcus, HJ; Rasul, FT; Hussein, Z; Baldeweg, SE; Spoudeas, HA; Hayward, R; Jeelani, NUO; Thompson, D; Grieve, JP; Dorward, NL; Aquilina, K; - view fewer (2020) Craniopharyngioma in children: trends from a third consecutive single-center cohort study. Journal of Neurosurgery , 25 (3) pp. 242-250. 10.3171/2019.10.PEDS19147.

Maresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil; Mandy, William; Skuse, David; Muntoni, Francesco; (2022) Development of a novel startle response task in Duchenne muscular dystrophy. PLoS ONE , 17 (4) , Article e0264091. 10.1371/journal.pone.0264091.

Maresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil A; Mandy, William; Skuse, David; Muntoni, Francesco; (2023) Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency. Brain , 146 (1) pp. 252-265. 10.1093/brain/awac048.

Mariot, V; Joubert, R; Le Gall, L; Sidlauskaite, E; Hourde, C; Duddy, W; Voit, T; ... Dumonceaux, J; + view all Mariot, V; Joubert, R; Le Gall, L; Sidlauskaite, E; Hourde, C; Duddy, W; Voit, T; Bencze, M; Dumonceaux, J; - view fewer (2021) RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12813. (In press).

Mariot, Virginie; Dumonceaux, Julie; (2022) Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy. Frontiers in Genome Editing , 4 , Article 937879. 10.3389/fgeed.2022.937879.

Mariot, V; Joubert, R; Hourdé, C; Féasson, L; Hanna, M; Muntoni, F; Maisonobe, T; ... Dumonceaux, J; + view all Mariot, V; Joubert, R; Hourdé, C; Féasson, L; Hanna, M; Muntoni, F; Maisonobe, T; Servais, L; Bogni, C; Le Panse, R; Benvensite, O; Stojkovic, T; Machado, PM; Voit, T; Buj-Bello, A; Dumonceaux, J; - view fewer (2017) Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Nature Communications , 8 , Article 1859. 10.1038/s41467-017-01486-4.

Mariot, V; Joubert, R; Marsollier, A-C; Hourde, C; Voit, T; Dumonceaux, J; (2020) A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy. Molecular Therapy - Nucleic Acids , 22 pp. 1191-1199. 10.1016/j.omtn.2020.10.028.

Mariot, V; Le Guiner, C; Barthelemy, I; Montus, M; Blot, S; Torelli, S; Morgan, J; ... Dumonceaux, J; + view all Mariot, V; Le Guiner, C; Barthelemy, I; Montus, M; Blot, S; Torelli, S; Morgan, J; Muntoni, F; Voit, T; Dumonceaux, J; - view fewer (2020) Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne Muscular Dystrophy. Molecular Therapy - Methods and Clinical Development , 18 pp. 415-421. 10.1016/j.omtm.2020.06.016.

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; ... Severino, Mariasavina; + view all Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina; - view fewer (2023) Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain , 146 (12) pp. 5031-5043. 10.1093/brain/awad257.

Marques, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Nabbout, R; + view all Marques, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jansen, AC; Jozwiak, S; Kingswood, JC; Lawson, JA; Macaya, A; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Nabbout, R; - view fewer (2019) The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases. Frontiers in Neurology , 10 , Article 1182. 10.3389/fneur.2019.01182.

Marques, R; Belousoye, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Trollmann, R; + view all Marques, R; Belousoye, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Kingswood, JC; Jansen, AC; Shinohara, N; LIorie, S; Kubota, M; Tohyama, J; Imai, K; Kaneda, M; Kaneko, H; Uchida, Y; Kirino, T; Endo, S; Inoue, Y; Uruno, K; Serdaroglu, A; Yapici, Z; Anlar, B; Altunbasak, S; Lvova, O; Belyaev, OV; Agranovich, O; Levitina, EV; Maksimova, YV; Karas, A; Jiang, Y; Zou, L; Xu, K; Zhang, Y; Luan, G; Zhang, Y; Wang, Y; Jin, M; Ye, D; Liao, W; Zhou, L; Liu, J; Liao, J; Yan, B; Deng, Y; Jiang, L; Liu, Z; Huang, S; Li, H; Kim, K; Chen, P-L; Lee, H-F; Tsai, J-D; Chi, C-S; Huang, C-C; Riney, AK; Yates, D; Kwan, P; Likasitwattanakul, S; Nabangchang, C; Chomtho, LTK; Katanyuwong, K; Sriudomkajorn, S; Wilmshurst, J; Segel, R; Gilboa, T; Tzadok, M; Fattal-Valevski, A; Papathanasopoulos, P; Papavasiliou, AS; Giannakodimos, S; Gatzonis, S; Pavlou, E; Tzoufi, M; Vergeer, AMM; Dhooghe, M; Verhelst, H; Roelens, F; Nassogne, MC; Defresne, P; De Waele, L; Leroy, P; Demonceau, N; Legros, B; Van Bogaert, P; Ceulemans, B; Dom, L; Castelnau, P; Martin, ADS; Riquet, A; Milh, M; Cances, C; Pedespan, J-M; Ville, D; Roubertie, A; Auvin, S; Berquin, P; Richelme, C; Allaire, C; Gueden, S; Tich, SNT; Godet, B; Falco Rojas, MLR; Campistol Planas, J; Martinez Bermejo, A; Smeyers Dura, P; Roldan Aparicio, S; Martinez Gonzalez, MJ; Lopez Pison, J; Blanco Barca, MO; Lopez Laso, E; Alonso Luengo, O; Aguirre Rodriguez, FJ; Malaga Dieguez, I; Camacho Salas, A; Marti Carrera, I; Martinez Salcedo, E; Yoldi Petri, ME; Cancho Candela, R; Carrilho, IDC; Vieira, JP; da Silva Oliveira Monteiro, JP; de Oliveira Ferreira Leao, MJS; Marceano Ribeiro Luis, CS; Mendonca, CP; Endziniene, M; Strautmanis, J; Talvik, I; Canevini, MP; Gambardella, A; Pruna, D; Buono, S; Fontana, E; Dalla Bernardina, B; Burloiu, C; Cosma, ISB; Vintan, MA; Popescu, L; Zitterbart, K; Payerova, J; Bratsky, L; Zilinska, Z; Gruber-Sedlmayr, U; Baumann, M; Laberlandt, E; Rostasy, K; Pataraia, E; Elmslie, F; Johnston, CA; Crawford, P; Uldall, P; Uvebrant, P; Rask, O; Bjoernvold, M; Brodtkorb, E; Sloerdahi, A; Solhoff, R; Jaatun, MSG; Mandera, M; Radzikowska, EJ; Wysocki, M; Fischereder, M; Kurlemann, G; Wilken, B; Wiemer-Kruel, A; Budde, K; Marquard, K; Knuf, M; Hahn, A; Hartmann, H; Merkenschlager, A; Trollmann, R; - view fewer (2019) Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. Frontiers in Neurology , 10 , Article 1144. 10.3389/fneur.2019.01144.

Marrosu, Elena; (2022) Characterisation of a novel interaction of dystrophin with caveolae in the heart. Doctoral thesis (Ph.D), UCL (University College London).

Marrosu, E; Ala, P; Muntoni, F; Zhou, H; (2017) Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. Molecular Therapy - Nucleic Acids , 8 pp. 416-427. 10.1016/j.omtn.2017.07.006.

Marsollier, A-C; Joubert, R; Mariot, V; Dumonceaux, J; (2018) Targeting the polyadenylation signal of pre-mRNA: a new gene silencing approach for Facioscapulohumeral dystrophy. International Journal of Molecular Sciences , 19 (5) , Article 1347. 10.3390/ijms19051347.

Marti-Sanchez, L; Ortigoza-Escobar, JD; Darling, A; Villaronga, M; Baide, H; Molero-Luis, M; Batllori, M; ... Duenas, P; + view all Marti-Sanchez, L; Ortigoza-Escobar, JD; Darling, A; Villaronga, M; Baide, H; Molero-Luis, M; Batllori, M; Vanegas, MI; Muchart, J; Aquino, L; Artuch, R; Macaya, A; Kurian, MA; Duenas, P; - view fewer (2018) Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system. Orphanet Journal of Rare Diseases , 13 , Article 28. 10.1186/s13023-018-0758-x.

Martin-McGill, KJ; Lambert, B; Whiteley, VJ; Wood, S; Neal, EG; Simpson, ZR; Schoeler, NE; (2019) Understanding the core principles of a 'modified ketogenic diet': a UK and Ireland perspective. Journal of Human Nutrition and Dietetics , 32 (3) pp. 385-390. 10.1111/jhn.12637.

Martinelli, S; Cordeddu, V; Galosi, S; Lanzo, A; Palma, E; Pannone, L; Ciolfi, A; ... Leuzzi, V; + view all Martinelli, S; Cordeddu, V; Galosi, S; Lanzo, A; Palma, E; Pannone, L; Ciolfi, A; Di Nottia, M; Rizza, T; Bocchinfuso, G; Traversa, A; Caputo, V; Farrotti, A; Carducci, C; Bernardini, L; Cogo, S; Paglione, M; Venditti, M; Bentivoglio, A; Ng, J; Kurian, MA; Civiero, L; Greggio, E; Stella, L; Trettel, F; Sciaccaluga, M; Roseti, C; Carrozzo, R; Fucile, S; Limatola, C; Di Schiavi, E; Tartaglia, M; Leuzzi, V; - view fewer (2020) Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism. Parkinsonism & Related Disorders , 72 pp. 75-79. 10.1016/j.parkreldis.2020.02.003.

Martinos, MM; Pujar, S; Gillberg, C; Cortina-Borja, M; Neville, BGR; De Haan, M; Scott, RC; Martinos, MM; Pujar, S; Gillberg, C; Cortina-Borja, M; Neville, BGR; De Haan, M; Scott, RC; Chin, RFM; - view fewer (2017) Long-term behavioural outcomes after paediatric convulsive status epilepticus: a population-based cohort study. Developmental Medicine & Child Neurology 10.1111/dmcn.13636. (In press).

Martinos, MM; Pujar, S; O'Reilly, H; de Haan, M; Neville, BGR; Scott, RC; Chin, RFM; (2019) Intelligence and memory outcomes within 10 years of childhood convulsive status epilepticus. Epilepsy & Behavior , 95 pp. 18-25. 10.1016/j.yebeh.2019.03.039.

Martinos, MM; Yoong, M; Patil, S; Chong, WK; Mardari, R; Chin, RF; Neville, BG; ... Scott, RC; + view all Martinos, MM; Yoong, M; Patil, S; Chong, WK; Mardari, R; Chin, RF; Neville, BG; de Haan, M; Scott, RC; - view fewer (2013) Early developmental outcomes in children following convulsive status epilepticus: a longitudinal study. Epilepsia , 54 (6) 1012 - 1019. 10.1111/epi.12136.

Massey, AT; Lerner, DK; Holmes, GL; Scott, RC; Hernan, AE; (2016) ACTH Prevents Deficits in Fear Extinction Associated with Early Life Seizures. Frontiers in Neurology , 7 , Article 65. 10.3389/fneur.2016.00065.

Masson, R; Brusa, C; Scoto, M; Baranello, G; (2021) Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Developmental Medicine and Child Neurology , 63 (5) pp. 527-536. 10.1111/dmcn.14798.

Masson, R; Mazurkiewicz-Bełdzińska, M; Rose, K; Servais, L; Xiong, H; Zanoteli, E; Baranello, G; ... Sposetti, L; + view all Masson, R; Mazurkiewicz-Bełdzińska, M; Rose, K; Servais, L; Xiong, H; Zanoteli, E; Baranello, G; Bruno, C; Day, JW; Deconinck, N; Klein, A; Mercuri, E; Vlodavets, D; Wang, Y; Dodman, A; El-Khairi, M; Gorni, K; Jaber, B; Kletzl, H; Gaki, E; Fontoura, P; Darras, BT; Volpe, JJ; Posner, J; Kellner, U; Quinlivan, R; Gerber, M; Khwaja, O; Scalco, RS; Seabrook, T; Koch, A; Balikova, I; Joniau, I; Accou, G; Tahon, V; Wittevrongel, S; De Vos, E; de Holanda Mendonça, R; Matsui, C; Fornazieri Darcie, AL; Machado, C; Kiyoko Oyamada, M; Martini, J; Polido, G; Rodrigues Iannicelli, J; Caires de Oliveira Achili Ferreira, J; Hu, C; Zhu, X; Qian, C; Shen, L; Li, H; Shi, Y; Zhou, S; Xiao, Y; Zhou, Z; Wang, S; Sang, T; Wei, C; Dong, H; Cao, Y; Wen, J; Li, W; Qin, L; Barisic, N; Celovec, I; Galiot Delic, M; Ivkic, PK; Vukojevic, N; Kern, I; Najdanovic, B; Skugor, M; Tomas, J; Boespflug-Tanguy, O; De Lucia, S; Seferian, A; Barreau, E; Mnafek, N; Peche, H; Grange, A; Trang Nguyen, D; Milascevic, D; Tachibana, S; Pagliano, E; Bianchi Marzoli, S; Santarsiero, D; Garcia Sierra, M; Tremolada, G; Arnoldi, MT; Vigano, M; Dosi, C; Zanin, R; Schembri, V; Brolatti, N; Rao, G; Tassara, E; Morando, S; Tacchetti, P; Pedemonte, M; Priolo, E; Sposetti, L; - view fewer (2022) Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. The Lancet Neurology , 21 (12) pp. 1110-1119. 10.1016/S1474-4422(22)00339-8.

Matalonga, L; Laurie, S; Papakonstantinou, A; Piscia, D; Mereu, E; Bullich, G; Thompson, R; ... RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Con, .; + view all Matalonga, L; Laurie, S; Papakonstantinou, A; Piscia, D; Mereu, E; Bullich, G; Thompson, R; Horvath, R; Pérez-Jurado, L; Riess, O; Gut, I; van Ommen, G-J; Lochmüller, H; Beltran, S; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Con, .; - view fewer (2020) Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. The Journal of Molecular Diagnostics , 22 (9) pp. 1205-1215. 10.1016/j.jmoldx.2020.06.008.

Mathieson, S; Rennie, J; Livingstone, V; Temko, A; Low, E; Pressler, RM; Boylan, GB; (2016) In-depth performance analysis of an EEG based neonatal seizure detection algorithm. Clinical Neurophysiology , 127 (5) pp. 2246-2256. 10.1016/j.clinph.2016.01.026.

Mathieson, SR; (2016) Neurophysiology Based Performance Analysis of a Novel Automated Seizure Detection Algorithm for Neonatal EEG. Doctoral thesis , UCL (University College London).

Mathieson, SR; Livingstone, V; Low, E; Pressler, R; Rennie, JM; Boylan, GB; (2016) Phenobarbital reduces EEG amplitude and propagation of neonatal seizures but does not alter performance of automated seizure detection. Clinical Neurophysiology , 127 (10) pp. 3343-3350. 10.1016/j.clinph.2016.07.007.

Matthews, E; Hartley, L; Sud, R; Hanna, MG; Muntoni, F; Munot, P; (2018) Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy. [Letter]. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2017-317849.

Matthews, E; Silwal, A; Sud, R; Hanna, MG; Manzur, AY; Muntoni, F; Munot, P; (2017) Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. Journal of Pediatrics , 188 181-185.e6. 10.1016/j.jpeds.2017.05.081.

Maurer, Constance; Boleti, Olga; Najarzadeh Torbati, Paria; Norouzi, Farzaneh; Fowler, Anna Nicole Rebekah; Minaee, Shima; Salih, Khalid Hama; ... Jamshidi, Yalda; + view all Maurer, Constance; Boleti, Olga; Najarzadeh Torbati, Paria; Norouzi, Farzaneh; Fowler, Anna Nicole Rebekah; Minaee, Shima; Salih, Khalid Hama; Taherpour, Mehdi; Birjandi, Hassan; Alizadeh, Behzad; Salih, Aso Faeq; Bijari, Moniba; Houlden, Henry; Pittman, Alan Michael; Maroofian, Reza; Almashham, Yahya H; Karimiani, Ehsan Ghayoor; Kaski, Juan Pablo; Faqeih, Eissa Ali; Vakilian, Farveh; Jamshidi, Yalda; - view fewer (2023) Genetic Insights from Consanguineous Cardiomyopathy Families. Genes , 14 (1) , Article 182. 10.3390/genes14010182.

May, L; (2016) Towards developing an outpatient assessment tool of LSL that incorporates clinical evaluation and the impact on patient and family in terms of Health Related Quality of Life. Doctoral thesis , UCL (University College London).

McColgan, P; Gregory, S; Razi, A; Seunarine, KK; Gargouri, F; Durr, A; Roos, RA; ... Johnson, H; + view all McColgan, P; Gregory, S; Razi, A; Seunarine, KK; Gargouri, F; Durr, A; Roos, RA; Leavitt, BR; Scahill, RI; Clark, CA; Tabrizi, SJ; Rees, G; The Track On‐HD Investigators; Coleman, A; Decolongon, J; Fan, M; Petkau, T; Jauffret, C; Justo, D; Lehericy, S; Nigaud, K; Valabrègue, R; Choonderbeek, A; Hart, EP; Hensman Moss, DJ; Crawford, H; Johnson, E; Papoutsi, M; Berna, C; Reilmann, R; Weber, N; Stout, J; Labuschagne, I; Landwehrmeyer, B; Orth, M; Johnson, H; - view fewer (2017) White matter predicts functional connectivity in premanifest Huntington's disease. Annals of Clinical and Translational Neurology , 4 (2) pp. 106-118. 10.1002/acn3.384.

McColgan, P; Gregory, S; Seunarine, KK; Razi, A; Papoutsi, M; Johnson, E; Durr, A; ... Tabrizi, SJ; + view all McColgan, P; Gregory, S; Seunarine, KK; Razi, A; Papoutsi, M; Johnson, E; Durr, A; Roos, RAC; Leavitt, BR; Holmans, P; Scahill, RI; Clark, CA; Rees, G; Tabrizi, SJ; - view fewer (2017) Brain regions showing white matter loss in Huntington’s disease are enriched for synaptic and metabolic genes. Biological Psychiatry 10.1016/j.biopsych.2017.10.019. (In press).

McColgan, P; Seunarine, K; Gregory, S; Razi, A; Papoutsi, M; Long, J; Mills, J; ... Track-On HD Investigators; + view all McColgan, P; Seunarine, K; Gregory, S; Razi, A; Papoutsi, M; Long, J; Mills, J; Johnson, E; Durr, A; Roos, R; Leavitt, B; Stout, J; Scahill, R; Clark, C; Rees, G; Tabrizi, SJ; Track-On HD Investigators; - view fewer (2017) Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's disease. JCI Insight , 2 (8) , Article e92641. 10.1172/jci.insight.92641.

McColgan, P; Seunarine, KK; Razi, A; Cole, JH; Gregory, S; Durr, A; Roos, RA; ... Track-HD Investigators, .; + view all McColgan, P; Seunarine, KK; Razi, A; Cole, JH; Gregory, S; Durr, A; Roos, RA; Stout, JC; Landwehrmeyer, B; Scahill, RI; Clark, CA; Rees, G; Tabrizi, SJ; Track-HD Investigators, .; - view fewer (2015) Selective vulnerability of Rich Club brain regions is an organizational principle of structural connectivity loss in Huntington's disease. Brain , 138 (Pt 11) pp. 3327-3344. 10.1093/brain/awv259.

McCormack, P; Woods, S; Aartsma-Rus, A; Hagger, L; Herczegfalvi, A; Heslop, E; Irwin, J; ... Ferlini, A; + view all McCormack, P; Woods, S; Aartsma-Rus, A; Hagger, L; Herczegfalvi, A; Heslop, E; Irwin, J; Kirschner, J; Moeschen, P; Muntoni, F; Ouillade, MC; Rahbek, J; Rehmann-Sutter, C; Rouault, F; Sejersen, T; Vroom, E; Straub, V; Bushby, K; Ferlini, A; - view fewer (2013) Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr , 5 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec.

McCrea, N; Fullerton, HJ; Ganesan, V; (2019) Genetic and Environmental Associations With Pediatric Cerebral Arteriopathy Insights Into Disease Mechanisms. Stroke , 50 (2) pp. 257-265. 10.1161/STROKEAHA.118.020479.

McCrea, N; Saunders, D; Bagkeris, E; Chitre, M; Ganesan, V; (2016) Diagnosis of vertebral artery dissection in childhood posterior circulation arterial ischaemic stroke. Developmental Medicine and Child Neurology , 58 (1) pp. 63-69. 10.1111/dmcn.12945.

McDonald, CM; Muntoni, F; Penematsa, V; Jiang, J; Kristensen, A; Bibbiani, F; Goodwin, E; ... Guglieri, M; + view all McDonald, CM; Muntoni, F; Penematsa, V; Jiang, J; Kristensen, A; Bibbiani, F; Goodwin, E; Gordish-Dressman, H; Morgenroth, L; Werner, C; Li, J; Able, R; Trifillis, P; Tulinius, M; Ryan, M; Jones, K; Goemans, N; Campbell, C; Mah, JK; Selby, K; Chabrol, B; Pereon, Y; Voit, T; Gidaro, T; Schara, U; Kirschner, JB; Nevo, Y; Comi, GP; Bertini, E; Mercuri, E; Colomer, J; Nascimento, A; Vilchez, JJ; Tulinius, M; Sejersen, T; Muntoni, F; Bushby, K; Guglieri, M; - view fewer (2021) Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. Journal of Comparative Effectiveness Research 10.2217/cer-2021-0196. (In press).

McDonald, CM; Wei, L-J; Flanigan, KM; Elfring, G; Trifillis, P; Muntoni, F; (2021) Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle & Nerve 10.1002/mus.27396. (In press).

McDonald, CM; Campbell, C; Erazo Torricelli, R; Finkel, RS; Flanigan, KM; Goemans, N; Heydemann, P; ... Mercuri, E; + view all McDonald, CM; Campbell, C; Erazo Torricelli, R; Finkel, RS; Flanigan, KM; Goemans, N; Heydemann, P; Kaminska, A; Kirschner, J; Muntoni, F; Nascimento Osorio, A; Schara, U; Sejersen, T; Shieh, PB; Sweeney, HL; Topaloglu, H; Tulinius, M; Vilchez, JJ; Voit, T; Wong, B; Elfring, G; Kroger, H; Luo, X; McIntosh, J; Ong, T; Riebling, P; Souza, M; Spiegel, RJ; Peltz, SW; Mercuri, E; - view fewer (2017) Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet , 390 (10101) pp. 1489-1498. 10.1016/S0140-6736(17)31611-2.

McDonald, CM; Meier, T; Voit, T; Schara, U; Straathof, CSM; D'Angelo, MG; Bernert, G; ... DELOS Study Group; + view all McDonald, CM; Meier, T; Voit, T; Schara, U; Straathof, CSM; D'Angelo, MG; Bernert, G; Cuisset, J-M; Finkel, RS; Goemans, N; Rummey, C; Leinonen, M; Spagnolo, P; Buyse, GM; DELOS Study Group; - view fewer (2016) Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscular Disorders , 26 (8) pp. 473-480. 10.1016/j.nmd.2016.05.008.

McDonald, CM; Sajeev, G; Yao, Z; McDonnell, E; Elfring, G; Souza, M; Peltz, SW; ... Wong, B; + view all McDonald, CM; Sajeev, G; Yao, Z; McDonnell, E; Elfring, G; Souza, M; Peltz, SW; Darras, BT; Shieh, PB; Cox, DA; Landry, J; Signorovitch, J; Campbell, C; Torricelli, RE; Finkel, RS; Flanigan, KM; Goemans, N; Heydemann, P; Kaminska, A; Kirschner, J; Muntoni, F; Osorio, AN; Schara, U; Sejersen, T; Sweeney, HL; Topaloglu, H; Tulinius, M; Vilchez, JJ; Voit, T; Wong, B; Alfano, LN; Eagle, M; James, MK; Lowes, L; Mayhew, A; Mazzone, ES; Nelson, L; Rose, KJ; Abdel-Hamid, HZ; Apkon, SD; Barohn, RJ; Bertini, E; Bloetzer, C; de Vaud, LC; Butterfield, RJ; Chabrol, B; Chae, JH; Jongno-Gu, DR; Comi, GP; Darras, BT; Dastgir, J; Desguerre, I; Escobar, RG; Finanger, E; Guglieri, M; Hughes, I; Iannaccone, ST; Jones, KJ; Karachunski, P; Kudr, M; Lotze, T; Mah, JK; Mathews, K; Nevo, Y; Parsons, J; Pereon, Y; Araujo, APDQC; Renfroe, JB; de Resende, MBD; Ryan, M; Selby, K; Tennekoon, G; Vita, G; Abdel-Hamid, H; Apkon, S; Barohn, R; Belousova, E; Bertini, E; Brandsema, J; Bruno, C; Burnette, W; Butterfield, R; Byrne, B; Campbell, C; Carlo, J; Chae, JH; Chandratre, S; Comi, G; Connolly, A; De Groot, I; Deconinck, N; Dooley, J; Dubrovsky, A; Durigneux, J; Finanger, E; Finkel, R; Frank, LM; Goemans, N; Harper, A; Hattori, A; Herguner, O; Iannaccone, S; Janas, J; Jong, YJ; Kirschner, J; Komaki, H; Kuntz, N; Lee, WT; Leung, E; Mah, J; Mathews, K; Mercuri, E; McMillan, H; Mueller-Felber, W; de Munain, AL; Nakamura, A; Niks, E; Ogata, K; Pascual, S; Pegoraro, E; Pereon, Y; Renfroe, B; Sanka, RB; Schallner, J; Schara, U; Selby, K; Sendra, II; Servais, L; Smith, E; Sparks, S; Topaloglu, H; Victor, R; Vilchez, JJ; Wicklund, M; Wilichoswki, E; Wong, B; - view fewer (2020) Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials. Muscle & Nerve , 61 (1) pp. 26-35. 10.1002/mus.26736.

McDowell, AR; Feiweier, T; Muntoni, F; Hall, MG; Clark, CA; (2022) Clinically feasible diffusion MRI in muscle: Time dependence and initial findings in Duchenne muscular dystrophy. Magnetic Resonance in Medicine , 86 (6) pp. 3192-3200. 10.1002/mrm.28945.

McDowell, AR; Shelmerdine, SC; Carmichael, DW; Arthurs, OJ; (2018) High resolution isotropic diffusion imaging in post-mortem neonates: a feasibility study. [Rapid communication]. The British Journal of Radiology , 91 (1092) , Article 20180319. 10.1259/bjr.20180319.

McDowell, AR; Shelmerdine, SC; Lorio, S; Norman, W; Jones, R; Carmichael, DW; Arthurs, OJ; (2020) Multiparametric mapping in post-mortem perinatal MRI: a feasibility study. British Journal of Radiology , 93 , Article 20190952. 10.1259/bjr.20190952.

McGinnity, CJ; Koepp, MJ; Hammers, A; Riaño Barros, DA; Pressler, RM; Luthra, S; Jones, PA; ... Duncan, JS; + view all McGinnity, CJ; Koepp, MJ; Hammers, A; Riaño Barros, DA; Pressler, RM; Luthra, S; Jones, PA; Trigg, W; Micallef, C; Symms, MR; Brooks, DJ; Duncan, JS; - view fewer (2015) NMDA receptor binding in focal epilepsies. Journal of Neurology, Neurosurgery & Psychiatry , 86 (10) pp. 1150-1157. 10.1136/jnnp-2014-309897.

McGovern, E; Pringsheim, T; Medina, A; Cosentino, C; Shalash, A; Sardar, Z; Fung, VSC; ... Roze, E; + view all McGovern, E; Pringsheim, T; Medina, A; Cosentino, C; Shalash, A; Sardar, Z; Fung, VSC; Kurian, MA; Roze, E; - view fewer (2020) Transitional Care for Young People with Neurological Disorders: A Scoping Review with A Focus on Patients with Movement Disorders. Movement Disorders 10.1002/mds.28381. (In press).

McKevitt, C; Topor, M; Panton, A; Mallick, AA; Ganesan, V; Wraige, E; Gordon, A; (2019) Seeking normality: Parents' experiences of childhood stroke. Child: Care, Health and Development , 45 (1) pp. 89-95. 10.1111/cch.12622.

McMillan, Hugh J; Proud, Crystal M; Farrar, Michelle A; Alexander, Ian E; Muntoni, Francesco; Servais, Laurent; (2022) Onasemnogene abeparvovec for the treatment of spinal muscular atrophy. Expert Opinion on Biological Therapy 10.1080/14712598.2022.2066471. (In press).

McTague, A; Rossignoli, G; Ferrini, A; Barral, S; Kurian, MA; (2021) Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies. Frontiers in Genome Editing , 3 , Article 630600. 10.3389/fgeed.2021.630600.

McTague, Amy; Brunklaus, Andreas; Barcia, Giulia; Varadkar, Sophia; Zuberi, Sameer M; Chatron, Nicolas; Parrini, Elena; ... Lesca, Gaetan; + view all McTague, Amy; Brunklaus, Andreas; Barcia, Giulia; Varadkar, Sophia; Zuberi, Sameer M; Chatron, Nicolas; Parrini, Elena; Mei, Davide; Nabbout, Rima; Lesca, Gaetan; - view fewer (2022) Defining causal variants in rare epilepsies: An essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics , 65 (7) , Article 104531. 10.1016/j.ejmg.2022.104531.

Mctague, A; (2019) Navigating the genetic landscape of childhood epilepsy: a new perspective? Developmental Medicine & Child Neurology , 61 (8) pp. 858-859. 10.1111/dmcn.14203.

McTague, A; Martland, T; Appleton, R; (2018) Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children. Cochrane Database of Systematic Reviews , 1 , Article CD001905. 10.1002/14651858.CD001905.pub3.

McTague, A; Nair, U; Malhotra, S; Meyer, E; Trump, N; Gazina, EV; Papandreou, A; ... Kurian, MA; + view all McTague, A; Nair, U; Malhotra, S; Meyer, E; Trump, N; Gazina, EV; Papandreou, A; Ngoh, A; Ackermann, S; Ambegaonkar, G; Appleton, R; Desurkar, A; Eltze, C; Kneen, R; Kumar, AV; Lascelles, K; Montgomery, T; Ramesh, V; Samanta, R; Scott, RH; Tan, J; Whitehouse, W; Poduri, A; Scheffer, IE; Chong, WKK; Cross, JH; Topf, M; Petrou, S; Kurian, MA; - view fewer (2018) Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology , 90 (1) e55-e66. 10.1212/WNL.0000000000004762.

McTague, Amy; (2018) The Molecular Genetic Investigation of Epilepsy of Infancy with Migrating Focal Seizures. Doctoral thesis (Ph.D), UCL (University College London).

Mee, H; Kolias, AG; Chari, A; Ercole, A; Lecky, F; Turner, C; Tudur-Smith, C; ... Hutchinson, PJ; + view all Mee, H; Kolias, AG; Chari, A; Ercole, A; Lecky, F; Turner, C; Tudur-Smith, C; Coles, J; Anwar, F; Belli, A; Manford, M; Ham, T; McMahon, C; Bulters, D; Uff, C; Duncan, JS; Wilson, MH; Marson, AG; Hutchinson, PJ; - view fewer (2019) Pharmacological management of post-traumatic seizures in adults: current practice patterns in the UK and the Republic of Ireland. Acta Neurochirurgica , 161 (3) pp. 457-464. 10.1007/s00701-018-3683-9.

Megnin, Odette; Flitton, Atlanta; Jones, Catherine RG; de Haan, Michelle; Baldeweg, Torsten; Charman, Tony; (2012) Audiovisual Speech Integration in Autism Spectrum Disorders: ERP Evidence for Atypicalities in Lexical-Semantic Processing. Autism Research , 5 (1) pp. 39-48. 10.1002/aur.231.

Meier, T; Rummey, C; Leinonen, M; Spagnolo, P; Mayer, OH; Buyse, GM; DELOS Study Group; (2017) Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy. Neuromuscul Disord , 27 (4) pp. 307-314. 10.1016/j.nmd.2016.12.014.

Meinke, P; Kerr, ARW; Czapiewski, R; de Las Heras, JI; Dixon, CR; Harris, E; Kölbel, H; ... Schirmer, EC; + view all Meinke, P; Kerr, ARW; Czapiewski, R; de Las Heras, JI; Dixon, CR; Harris, E; Kölbel, H; Muntoni, F; Schara, U; Straub, V; Schoser, B; Wehnert, M; Schirmer, EC; - view fewer (2019) A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. EBioMedicine 10.1016/j.ebiom.2019.11.048. (In press).

Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; ... Baker, Kate; + view all Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; Larsen, Martin; Fagerberg, Christina; Laulund, Lone Walentin; Thies, Jenny; Emslie, Frances; Willemsen, Marjolein; Kleefstra, Tjitske; Pfundt, Rolf; Barrick, Rebekah; Chang, Richard; Loong, Lucy; Alfadhel, Majid; van der Smagt, Jasper; Nizon, Mathilde; Kurian, Manju; Scott, Daniel J; Ziarek, Joshua J; Gordon, Sarah L; Baker, Kate; - view fewer (2022) Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genetics in Medicine 10.1016/j.gim.2021.12.002. (In press).

Mencacci, NE; Steel, D; Magrinelli, F; Hsu, J; Sarmiento, IJK; Schifferli, MT; Munoz, D; ... Stamelou, M; + view all Mencacci, NE; Steel, D; Magrinelli, F; Hsu, J; Sarmiento, IJK; Schifferli, MT; Munoz, D; Stefanis, L; Lubbe, SJ; Wood, NW; Kurian, MA; Stamelou, M; - view fewer (2021) Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant. Movement Disorder , 36 (6) pp. 1472-1473. 10.1002/mds.28634.

Mencacci, NE; Brockmann, MM; Dai, J; Pajusalu, S; Atasu, B; Campos, J; Pino, G; ... Acuna, C; + view all Mencacci, NE; Brockmann, MM; Dai, J; Pajusalu, S; Atasu, B; Campos, J; Pino, G; Gonzalez-Latapi, P; Patzke, C; Schwake, M; Tucci, A; Pittman, A; Simon-Sanchez, J; Carvill, GL; Balint, B; Wiethoff, S; Warner, TT; Papandreou, A; Soo, AKS; Rein, R; Kadastik-Eerme, L; Puusepp, S; Reinson, K; Tomberg, T; Hanagasi, H; Gasser, T; Bhatia, KP; Kurian, MA; Lohmann, E; Õunap, K; Rosenmund, C; Südhof, T; Wood, N; Krainc, D; Acuna, C; - view fewer (2021) Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia. Journal of Clinical Investigation (JCI) , 131 (7) , Article e140625. 10.1172/JCI140625.

Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; ... Bhatia, KP; + view all Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; Adams, ME; Wiethoff, S; Suzuki, K; Davies, CH; Ng, J; Meyer, E; Veneziano, L; Giunti, P; Hughes, D; Raymond, FL; Carecchio, M; Zorzi, G; Nardocci, N; Barzaghi, C; Garavaglia, B; Salpietro, V; Hardy, J; Pittman, AM; Houlden, H; Kurian, MA; Kimura, H; Vissers, LE; Wood, NW; Bhatia, KP; - view fewer (2016) De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. The American Journal of Human Genetics , 98 (4) pp. 763-771. 10.1016/j.ajhg.2016.02.015.

Mendichovszky, I; Pullens, P; Dekkers, I; Nery, F; Bane, O; Pohlmann, A; de Boer, A; ... Sourbron, S; + view all Mendichovszky, I; Pullens, P; Dekkers, I; Nery, F; Bane, O; Pohlmann, A; de Boer, A; Ljimani, A; Odudu, A; Buchanan, C; Sharma, K; Laustsen, C; Harteveld, A; Golay, X; Pedrosa, I; Alsop, D; Fain, S; Caroli, A; Prasad, P; Francis, S; Sigmund, E; Fernández-Seara, M; Sourbron, S; - view fewer (2019) Technical recommendations for clinical translation of renal MRI: a consensus project of the Cooperation in Science and Technology Action PARENCHIMA. Magnetic Resonance Materials in Physics, Biology and Medicine 10.1007/s10334-019-00784-w. (In press).

Menezes, MP; Rahman, S; Bhattacharya, K; Clark, D; Christodoulou, J; Ellaway, C; Farrar, M; ... Ouvrier, R; + view all Menezes, MP; Rahman, S; Bhattacharya, K; Clark, D; Christodoulou, J; Ellaway, C; Farrar, M; Pitt, M; Sampaio, H; Ware, TL; Wedatilake, Y; Thorburn, DR; Ryan, MM; Ouvrier, R; - view fewer (2016) Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion , 30 pp. 162-167. 10.1016/j.mito.2016.07.014.

Meng, Jinhong; Moore, Marc; Counsell, John; Muntoni, Francesco; Popplewell, Linda; Morgan, Jennifer; (2022) Optimized lentiviral vector for restoration of full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy. Molecular Therapy: Methods & Clinical Development 10.1016/j.omtm.2022.04.015. (In press).

Meng, J; Counsell, J; Morgan, JE; (2020) Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells. International Journal of Molecular Sciences , 21 (19) , Article 7168. 10.3390/ijms21197168.

Meng, J; Counsell, JR; Reza, M; Laval, SH; Danos, O; Thrasher, A; Lochmüller, H; ... Morgan, JE; + view all Meng, J; Counsell, JR; Reza, M; Laval, SH; Danos, O; Thrasher, A; Lochmüller, H; Muntoni, F; Morgan, JE; - view fewer (2016) Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Scientific Reports , 6 , Article 19750. 10.1038/srep19750.

Meng, J; Muntoni, F; Morgan, J; (2018) CD133+cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability. Stem Cell Research , 30 pp. 43-52. 10.1016/j.scr.2018.05.004.

Meng, J; Sweeney, N; Doreste, B; Muntoni, F; McClure, M; Morgan, J; (2020) Restoration of Functional Full-Length Dystrophin After Intramuscular Transplantation of Foamy Virus-Transduced Myoblasts. Human Gene Therapy , 31 (3-4) 10.1089/hum.2019.224.

Meng, JH; Adkin, CF; Xu, SW; Muntoni, F; Morgan, JE; (2011) Contribution of Human Muscle-Derived Cells to Skeletal Muscle Regeneration in Dystrophic Host Mice. PLOS ONE , 6 (3) , Article e17454. 10.1371/journal.pone.0017454.

Menzies, L; D'Arco, F; Ganesan, V; Hurst, JA; (2020) Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management. European Journal of Medical Genetics , 63 (4) , Article 103785. 10.1016/j.ejmg.2019.103785.

Mercuri, E; Seferian, AM; Servais, L; Deconinck, N; Stevenson, H; Ni, X; Zhang, W; ... Muntoni, F; + view all Mercuri, E; Seferian, AM; Servais, L; Deconinck, N; Stevenson, H; Ni, X; Zhang, W; East, L; Yonren, S; Muntoni, F; - view fewer (2023) Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping. Neuromuscular Disorders , 33 (6) pp. 476-483. 10.1016/j.nmd.2023.03.008.

Mercuri, Eugenio; Baranello, Giovanni; Boespflug-Tanguy, Odile; De Waele, Liesbeth; Goemans, Nathalie; Kirschner, Janbernd; Masson, Riccardo; ... Servais, Laurent; + view all Mercuri, Eugenio; Baranello, Giovanni; Boespflug-Tanguy, Odile; De Waele, Liesbeth; Goemans, Nathalie; Kirschner, Janbernd; Masson, Riccardo; Mazzone, Elena S; Pechmann, Astrid; Pera, Maria Carmela; Vuillerot, Carole; Bader-Weder, Silvia; Gerber, Marianne; Gorni, Ksenija; Hoffart, Janine; Kletzl, Heidemarie; Martin, Carmen; McIver, Tammy; Scalco, Renata S; Yeung, Wai Yin; Servais, Laurent; - view fewer (2022) Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment. European Journal of Neurology 10.1111/ene.15499. (In press).

Mercuri, Eugenio; Osorio, Andrés Nascimento; Muntoni, Francesco; Buccella, Filippo; Desguerre, Isabelle; Kirschner, Janbernd; Tulinius, Már; ... STRIDE and CINRG DNHS, investigators; + view all Mercuri, Eugenio; Osorio, Andrés Nascimento; Muntoni, Francesco; Buccella, Filippo; Desguerre, Isabelle; Kirschner, Janbernd; Tulinius, Már; de Resende, Maria Bernadete Dutra; Morgenroth, Lauren P; Gordish-Dressman, Heather; Johnson, Shelley; Kristensen, Allan; Werner, Christian; Trifillis, Panayiota; Henricson, Erik K; McDonald, Craig M; STRIDE and CINRG DNHS, investigators; - view fewer (2023) Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. Journal of Neurology pp. 1-18. 10.1007/s00415-023-11687-1. (In press).

Mercuri, E; Bonnemann, CG; Muntoni, F; (2019) Muscular dystrophies. The Lancet , 394 (10213) pp. 2025-2038. 10.1016/S0140-6736(19)32910-1.

Mercuri, E; Coratti, G; Messina, S; Ricotti, V; Baranello, G; D'Amico, A; Pera, MC; ... Pane, M; + view all Mercuri, E; Coratti, G; Messina, S; Ricotti, V; Baranello, G; D'Amico, A; Pera, MC; Albamonte, E; Sivo, S; Mazzone, ES; Arnoldi, MT; Fanelli, L; De Sanctis, R; Romeo, DM; Vita, GL; Battini, R; Bertini, E; Muntoni, F; Pane, M; - view fewer (2016) Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy. PLoS ONE , 11 (8) , Article e0160195. 10.1371/journal.pone.0160195.

Mercuri, E; Finkel, RS; Muntoni, F; Wirth, B; Montes, J; Main, M; Mazzone, ES; ... SMA Care Group, .; + view all Mercuri, E; Finkel, RS; Muntoni, F; Wirth, B; Montes, J; Main, M; Mazzone, ES; Vitale, M; Snyder, B; Quijano-Roy, S; Bertini, E; Davis, RH; Meyer, OH; Simonds, AK; Schroth, MK; Graham, RJ; Kirschner, J; Iannaccone, ST; Crawford, TO; Woods, S; Qian, Y; Sejersen, T; SMA Care Group, .; - view fewer (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders , 28 (2) pp. 103-115. 10.1016/j.nmd.2017.11.005.

Mercuri, E; Muntoni, F; Osorio, AN; Tulinius, M; Buccella, F; Morgenroth, LP; Gordish-Dressman, H; ... CINRG Duchenne Natural History Investigators; + view all Mercuri, E; Muntoni, F; Osorio, AN; Tulinius, M; Buccella, F; Morgenroth, LP; Gordish-Dressman, H; Jiang, J; Trifillis, P; Zhu, J; Kristensen, A; Santos, CL; Henricson, EK; McDonald, CM; Desguerre, I; STRIDE; CINRG Duchenne Natural History Investigators; - view fewer (2020) Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. Journal of Comparative Effectiveness Research 10.2217/cer-2019-0171.

Mercuri, E; Signorovitch, JE; Swallow, E; Song, J; Ward, SJ; Pane, M; Mazzone, E; ... Reha, A; + view all Mercuri, E; Signorovitch, JE; Swallow, E; Song, J; Ward, SJ; Pane, M; Mazzone, E; Messina, S; Vita, GL; Sormani, MP; D'Amico, A; Berardinelli, A; Magri, F; Comi, GP; Baranello, G; Mongini, T; Pini, A; Battini, R; Pegoraro, E; Bruno, C; Politano, L; Previtali, S; Binks, MH; Campion, G; Charnas, L; Kaye, E; Kelly, M; Morris, C; Reha, A; - view fewer (2016) Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy. Neuromuscular Disorders , 26 (9) pp. 576-583. 10.1016/j.nmd.2016.05.016.

Meshaka, R; Dos Santos, DP; Arthurs, OJ; Sebire, NJ; Shelmerdine, SC; (2021) Artificial intelligence reporting guidelines: what the pediatric radiologist needs to know. Pediatric Radiology 10.1007/s00247-021-05129-1. (In press).

Meshaka, Riwa; Whittam, Fern C; Guessoum, Myriam; Eleti, Saigeet; Shelmerdine, Susan C; Arthurs, Owen J; McHugh, Kieran; ... Watson, Tom; + view all Meshaka, Riwa; Whittam, Fern C; Guessoum, Myriam; Eleti, Saigeet; Shelmerdine, Susan C; Arthurs, Owen J; McHugh, Kieran; Hiorns, Melanie P; Humphries, Paul D; Calder, Alistair D; Easty, Marina J; Gaynor, Edward P; Watson, Tom; - view fewer (2022) Abdominal US in Pediatric Inflammatory Multisystem Syndrome Associated with SARS-CoV-2 (PIMS-TS). Radiology , 303 (1) pp. 173-181. 10.1148/radiol.211737.

Mesraoua, Boulenouar; Cross, J Helen; Perucca, Emilio; Asadi-Pooya, Ali A; (2022) Epilepsy management during difficult times. Epileptic Disorders: international epilepsy journal with videotape , 24 (5) pp. 787-794. 10.1684/epd.2022.1453.

Mesraoua, B; Deleu, D; Al Hail, H; Melykian, G; Alsheikh, L; Ali, MA; Torbjorn, T; ... Asadi-Pooya, AA; + view all Mesraoua, B; Deleu, D; Al Hail, H; Melykian, G; Alsheikh, L; Ali, MA; Torbjorn, T; Abou Khalil, B; Cross, JH; Asadi-Pooya, AA; - view fewer (2020) Dramatic outcomes in epilepsy: depression, suicide, injuries, and mortality. Current Medical Research and Opinion , 36 (9) pp. 1473-1480. 10.1080/03007995.2020.1776234.

Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; ... Kurian, MA; + view all Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; Papandreou, A; Ng, J; Barral, S; Ngoh, A; Ben-Pazi, H; Willemsen, MA; Arkadir, D; Barnicoat, A; Bergman, H; Bhate, S; Boys, A; Darin, N; Foulds, N; Gutowski, N; Hills, A; Houlden, H; Hurst, JA; Israel, Z; Kaminska, M; Limousin, P; Lumsden, D; McKee, S; Misra, S; Mohammed, SS; Nakou, V; Nicolai, J; Nilsson, M; Pall, H; Peall, KJ; Peters, GB; Prabhakar, P; Reuter, MS; Rump, P; Segel, R; Sinnema, M; Smith, M; Turnpenny, P; White, SM; Wieczorek, D; Wiethoff, S; Wilson, BT; Winter, G; Wragg, C; Pope, S; Heales, SJ; Morrogh, D; UK10K Consortium, .; Deciphering Developmental Disorders Study, .; NIHR BioResource Rare Diseases Consortium, .; Pittman, A; Carr, LJ; Perez-Dueñas, B; Lin, JP; Reis, A; Gahl, WA; Toro, C; Bhatia, KP; Wood, NW; Kamsteeg, EJ; Chong, WK; Gissen, P; Topf, M; Dale, RC; Chubb, JR; Raymond, FL; Kurian, MA; - view fewer (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics , 49 (2) pp. 223-237. 10.1038/ng.3740.

Mikellides, G; Michael, P; Psalta, L; Stefani, A; Schuhmann, T; Sack, AT; (2023) Accelerated intermittent theta burst stimulation in smoking cessation: No differences between active and placebo stimulation when using advanced placebo coil technology. A double-blind follow-up study. International Journal of Clinical and Health Psychology , 23 (2) , Article 100351. 10.1016/j.ijchp.2022.100351.

Mikellides, Georgios; Michael, Panayiota; Psalta, Lilia; Stefani, Artemis; Schuhmann, Teresa; Sack, Alexander T; (2022) Accelerated Intermittent Theta Burst Stimulation in Smoking Cessation: Placebo Effects Equal to Active Stimulation When Using Advanced Placebo Coil Technology. Frontiers in Psychiatry , 13 , Article 892075. 10.3389/fpsyt.2022.892075.

Milev, Evelin; Selby, Victoria; Wolfe, Amy; Rohwer, Annemarie; Tillmann, Ricarda; Ramsey, Danielle; Iodice, Mario; ... Muntoni, Francesco; + view all Milev, Evelin; Selby, Victoria; Wolfe, Amy; Rohwer, Annemarie; Tillmann, Ricarda; Ramsey, Danielle; Iodice, Mario; Hogrel, Jean-Yves; Baranello, Giovanni; Scoto, Mariacristina; Muntoni, Francesco; - view fewer (2024) Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3. Muscle Nerve 10.1002/mus.28041. (In press).

Miller, M; Rumble, D; Hirsh, A; Vervoort, T; Crosby, L; Madan-Swain, A; Lebensburger, J; ... Trost, Z; + view all Miller, M; Rumble, D; Hirsh, A; Vervoort, T; Crosby, L; Madan-Swain, A; Lebensburger, J; Hood, A; Trost, Z; - view fewer (2021) Pain-Related Injustice Appraisals in Youth with Sickle Cell Disease: A Preliminary Investigation. Pain Medicine , 22 (10) pp. 2207-2217. 10.1093/pm/pnab001.

Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; ... Clayton, PT; + view all Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; Varadkar, SM; Zuberi, S; McWilliam, R; Stödberg, T; Plecko, B; Baumgartner, MR; Maier, O; Calvert, S; Riney, K; Wolf, NI; Livingston, JH; Bala, P; Morel, CF; Feillet, F; Raimondi, F; Del Giudice, E; Chong, WK; Pitt, M; Clayton, PT; - view fewer (2014) Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain , 137 (5) pp. 1350-1360. 10.1093/brain/awu051.

Misra, S; Peters, G; Barnes, E; Ardern-Holmes, S; Webster, R; Troedson, C; Mohammad, SS; ... Dale, RC; + view all Misra, S; Peters, G; Barnes, E; Ardern-Holmes, S; Webster, R; Troedson, C; Mohammad, SS; Gill, D; Menezes, M; Gupta, S; Procopis, P; Antony, J; Kurian, MA; Dale, RC; - view fewer (2019) Yield of comparative genomic hybridization microarray in pediatric neurology practice. Neurology Genetics , 5 (6) , Article e367. 10.1212/NXG.0000000000000367.

Mitrasinovic, S; Brown, APY; Schaefer, AT; Chang, SD; Appelboom, G; (2018) Silicon Valley new focus on brain computer interface: hype or hope for new applications? F1000Research , 7 , Article 1327. 10.12688/f1000research.15726.1.

Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; Burghes, AH; - view fewer (2013) Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy. PLoS One , 8 (4) , Article e62114. 10.1371/journal.pone.0062114.

Mitta, N; Menon, RN; McTague, A; Radhakrishnan, A; Sundaram, S; Cherian, A; Madhavilatha, GK; ... Thomas, SV; + view all Mitta, N; Menon, RN; McTague, A; Radhakrishnan, A; Sundaram, S; Cherian, A; Madhavilatha, GK; Mannan, AU; Nampoothiri, S; Thomas, SV; - view fewer (2020) Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience. Epilepsy Research , 166 , Article 106398. 10.1016/j.eplepsyres.2020.106398.

Mizrahi, Eli M; Pressler, Ronit M; (2022) The International League Against Epilepsy New Classification of Neonatal Seizures. Pediatrics , 150 (5) , Article e2022058114. 10.1542/peds.2022-058114.

Mo, J; Zhao, B; Adler, S; Zhang, J; Shao, X; Ma, Y; Sang, L; ... Zhang, K; + view all Mo, J; Zhao, B; Adler, S; Zhang, J; Shao, X; Ma, Y; Sang, L; Hu, W; Zhang, C; Wang, Y; Wang, X; Liu, C; Zhang, K; - view fewer (2021) Quantitative assessment of structural and functional changes in temporal lobe epilepsy with hippocampal sclerosis. Quantitative Imaging in Medicine and Surgery , 11 (5) pp. 1782-1796. 10.21037/qims-20-624.

Mohamed, M; Mediratta, S; Chari, A; da Costa, CS; James, G; Dawes, W; Aquilina, K; (2021) Post-haemorrhagic hydrocephalus is associated with poorer surgical and neurodevelopmental sequelae than other causes of infant hydrocephalus. Child's Nervous System 10.1007/s00381-021-05226-4.

Mohammad, SS; Angiti, RR; Biggin, A; Morales-Briceño, H; Goetti, R; Perez-Dueñas, B; Gregory, A; ... Basal Ganglia MRI Study Group; + view all Mohammad, SS; Angiti, RR; Biggin, A; Morales-Briceño, H; Goetti, R; Perez-Dueñas, B; Gregory, A; Hogarth, P; Ng, J; Papandreou, A; Bhattacharya, K; Rahman, S; Prelog, K; Webster, RI; Wassmer, E; Hayflick, S; Livingston, J; Kurian, M; Chong, WK; Dale, RC; Basal Ganglia MRI Study Group; - view fewer (2020) Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. Brain Communications , 2 (2) , Article fcaa178. 10.1093/braincomms/fcaa178.

Mohan, M; Islim, AI; Rasul, FT; Rominiyi, O; deSouza, R-M; Poon, MTC; Jamjoom, AAB; ... British Neurosurgical Trainee Research Collaborative, .; + view all Mohan, M; Islim, AI; Rasul, FT; Rominiyi, O; deSouza, R-M; Poon, MTC; Jamjoom, AAB; Kolias, AG; Woodfield, J; Patel, K; Chari, A; Kirollos, R; British Neurosurgical Trainee Research Collaborative, .; - view fewer (2019) Subarachnoid haemorrhage with negative initial neurovascular imaging: a systematic review and meta-analysis. Acta Neurochirurgica 10.1007/s00701-019-04025-w.

Monfrini, E; Zech, M; Steel, D; Kurian, MA; Winkelmann, J; Di Fonzo, A; (2021) HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia. Brain , 144 (9) pp. 2610-2615. 10.1093/brain/awab161.

Montagnese, Federica; de Valle, Katy; Lemmers, Richard JLF; Mul, Karlien; Dumonceaux, Julie; Voermans, Nicol; (2023) 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials. Neuromuscular Disorders , 33 (5) pp. 447-462. 10.1016/j.nmd.2023.04.005.

Montaldo, P; Addison, S; Oliveira, V; Lally, PJ; Taylor, AM; Sebire, NJ; Thayyil, S; Montaldo, P; Addison, S; Oliveira, V; Lally, PJ; Taylor, AM; Sebire, NJ; Thayyil, S; Arthurs, OJ; - view fewer (2016) Quantification of maceration changes using post mortem MRI in fetuses. BMC Medical Imaging , 16 , Article 34. 10.1186/s12880-016-0137-9.

Montes, J; Dunaway Young, S; Mazzone, ES; Pasternak, A; Glanzman, AM; Finkel, RS; Darras, BT; ... CS2 and CS12 Study Groups, .; + view all Montes, J; Dunaway Young, S; Mazzone, ES; Pasternak, A; Glanzman, AM; Finkel, RS; Darras, BT; Muntoni, F; Mercuri, E; De Vivo, DC; Bishop, KM; Schneider, E; Bennett, CF; Foster, R; Farwell, W; CS2 and CS12 Study Groups, .; - view fewer (2019) Nusinersen Improves Walking Distance and Reduces Fatigue in Later-Onset SMA. Muscle & Nerve , 60 (4) pp. 409-414. 10.1002/mus.26633.

Montes, J; McDermott, MP; Mirek, E; Mazzone, ES; Main, M; Glanzman, AM; Duong, T; ... Mercuri, E; + view all Montes, J; McDermott, MP; Mirek, E; Mazzone, ES; Main, M; Glanzman, AM; Duong, T; Young, SD; Salazar, R; Pasternak, A; Gee, R; De Sanctis, R; Coratti, G; Forcina, N; Fanelli, L; Ramsey, D; Milev, E; Civitello, M; Pane, M; Pera, MC; Scoto, M; Day, JW; Tennekoon, G; Finkel, RS; Darras, BT; Muntoni, F; De Vivo, DC; Mercuri, E; - view fewer (2018) Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. PLoS ONE , 13 (6) , Article e0199657. 10.1371/journal.pone.0199657.

Moraitis, E; Ganesan, V; (2014) Childhood infections and trauma as risk factors for stroke. Current Cardiology Reports , 16 (9) , Article 527. 10.1007/s11886-014-0527-y.

Moran, C; Habeb, AM; Kahaly, GJ; Kampmann, C; Hughes, M; Marek, J; Rajanayagam, O; ... Chatterjee, K; + view all Moran, C; Habeb, AM; Kahaly, GJ; Kampmann, C; Hughes, M; Marek, J; Rajanayagam, O; Kuczynski, A; Vargha-Khadem, F; Morsy, M; Offiah, AC; Poole, K; Ward, K; Lyons, G; Halsall, D; Berman, L; Watson, L; Baguley, D; Mollon, J; Moore, AT; Holder, GE; Dattani, M; Chatterjee, K; - view fewer (2017) Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure? Journal of the Endocrine Society , 1 (9) pp. 1203-1212. 10.1210/js.2017-00204.

Morera, Cristina; Kim, Jihee; Paredes-Redondo, Amaia; Nobles, Muriel; Rybin, Denis; Moccia, Robert; Kowala, Anna; ... Lin, Yung-Yao; + view all Morera, Cristina; Kim, Jihee; Paredes-Redondo, Amaia; Nobles, Muriel; Rybin, Denis; Moccia, Robert; Kowala, Anna; Meng, Jinhong; Garren, Seth; Liu, Pentao; Morgan, Jennifer E; Muntoni, Francesco; Christoforou, Nicolas; Owens, Jane; Tinker, Andrew; Lin, Yung-Yao; - view fewer (2022) CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model. Neuromuscular Disorders 10.1016/j.nmd.2022.10.007. (In press).

Morgan, A; Braden, R; Wong, MMK; Colin, E; Amor, D; Liégeois, F; Srivastava, S; ... Van Bon, BW; + view all Morgan, A; Braden, R; Wong, MMK; Colin, E; Amor, D; Liégeois, F; Srivastava, S; Vogel, A; Bizaoui, V; Ranguin, K; Fisher, SE; Van Bon, BW; - view fewer (2021) Speech and language deficits are central to SETBP1 haploinsufficiency disorder. European Journal of Human Genetics , 29 pp. 1216-1225. 10.1038/s41431-021-00894-x.

Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; ... Hildebrand, Michael S; + view all Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; Burrows, Emma L; Bennett, Mark F; Turner, Samantha J; Reilly, Sheena; Horton, Sarah E; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A; Featherby, Travis J; Richards, Kay L; Kueh, Andrew; Herold, Marco J; Corbett, Mark A; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy GY; Liégeois, Frédérique J; Morell, Robert J; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E; Wright, David K; Bahlo, Melanie; Hildebrand, Michael S; - view fewer (2023) Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. Brain , 146 (12) pp. 5086-5097. 10.1093/brain/awad314.

Morgan, J; Muntoni, F; (2021) Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy. Journal of Neuromuscular Diseases , 8 (s2) S317-S324. 10.3233/JND-210683.

Morgan, A; Bonthrone, A; Liégeois, FJ; (2016) Brain basis of childhood speech and language disorders: are we closer to clinically meaningful MRI markers? Current Opinion in Pediatrics , 28 (6) pp. 725-730. 10.1097/MOP.0000000000000420.

Morgan, AT; Murray, E; Liégeois, FJ; (2018) Interventions for childhood apraxia of speech. Cochrane Database of Systematic Reviews , 2018 (5) , Article CD006278. 10.1002/14651858.CD006278.pub3.

Morgan, AT; Su, M; Reilly, S; Conti-Ramsden, G; Connelly, A; Liegeois, FJ; (2018) A Brain Marker for Developmental Speech Disorders. The Journal of Pediatrics , 198 pp. 234-239. 10.1016/j.jpeds.2018.02.043.

Morgan, J; Butler-Browne, G; Muntoni, F; Patel, K; Skeletal Muscle Stem Cells Involvement in Pathology Study Group; (2019) 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands. Neuromuscular Disorders , 29 (9) pp. 704-715. 10.1016/j.nmd.2019.07.003.

Morgan, J; Partridge, T; (2020) Skeletal muscle in health and disease. Disease Models & Mechanisms , 13 (2) , Article dmm042192. 10.1242/dmm.042192.

Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; ... Bencze, M; + view all Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; Conti, F; Relaix, F; Authier, F-J; Tiret, L; Muntoni, F; Bencze, M; - view fewer (2018) Publisher Correction: Necroptosis Mediates Myofibre Death in Dystrophin-deficient Mice. [Corrigendum]. Nature Communications , 9 (1) , Article 4107. 10.1038/s41467-018-06636-w.

Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; ... Bencze, M; + view all Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; Conti, F; Relaix, F; Authier, F-J; Tiret, L; Muntoni, F; Bencze, M; - view fewer (2018) Necroptosis mediates myofibre death in dystrophin-deficient mice. Nature Communications , 9 , Article 3655. 10.1038/s41467-018-06057-9.

Moriarty, O; Tu, Y; Sengar, AS; Salter, MW; Beggs, S; Walker, SM; (2019) Priming of adult incision response by early life injury: neonatal microglial inhibition has persistent but sexually dimorphic effects in adult rats. Journal of Neuroscience , 39 (16) pp. 3081-3093. 10.1523/JNEUROSCI.1786-18.2019.

Morison, Lottie D; Kennis, Milou GP; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P; ... Morgan, Angela T; + view all Morison, Lottie D; Kennis, Milou GP; Rots, Dmitrijs; Bouman, Arianne; Kummeling, Joost; Palmer, Elizabeth; Vogel, Adam P; Liegeois, Frederique; Brignell, Amanda; Srivastava, Siddharth; Frazier, Zoe; Milnes, Di; Goel, Himanshu; Amor, David J; Scheffer, Ingrid E; Kleefstra, Tjitske; Morgan, Angela T; - view fewer (2024) Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. Journal of Medical Genetics 10.1136/jmg-2023-109702. (In press).

Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; ... Morgan, Angela T; + view all Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; Fisher, Simon E; Zweier, Christiane; Morgan, Angela T; - view fewer (2022) In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of Medical Genetics 10.1136/jmg-2022-108734. (In press).

Morton, Sarah U; Christodoulou, John; Costain, Gregory; Muntoni, Francesco; Wakeling, Emma; Wojcik, Monica H; French, Courtney E; ... Agrawal, Pankaj B; + view all Morton, Sarah U; Christodoulou, John; Costain, Gregory; Muntoni, Francesco; Wakeling, Emma; Wojcik, Monica H; French, Courtney E; Szuto, Anna; Dowling, James J; Cohn, Ronald D; Raymond, F Lucy; Darras, Basil T; Williams, David A; Lunke, Sebastian; Stark, Zornitza; Rowitch, David H; Agrawal, Pankaj B; - view fewer (2022) Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurology , 79 (4) pp. 405-413. 10.1001/jamaneurol.2022.0067.

Moss, DJH; Pardinas, AF; Langbehn, D; Lo, K; Leavitt, BR; Roos, R; Durr, A; ... Tabrizi, SJ; + view all Moss, DJH; Pardinas, AF; Langbehn, D; Lo, K; Leavitt, BR; Roos, R; Durr, A; Mead, S; Holmans, P; Jones, L; Tabrizi, SJ; - view fewer (2017) Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. Lancet Neurology , 16 (9) pp. 701-711. 10.1016/S1474-4422(17)30161-8.

Moudgil-Joshi, J; Venkatesh, A; Borchert, R; Chari, A; (2020) Letter to the Editor: Why Are Aspiring Neurosurgeons Considering Leaving the National Health Service to Pursue a Career in North America? World Neurosurgery , 142 pp. 580-581. 10.1016/j.wneu.2020.07.204.

Mouthaan, BE; Rados, M; Barsi, P; Boon, P; Carmichael, DW; Carrette, E; Craiu, D; ... E-PILEPSY consortium, .; + view all Mouthaan, BE; Rados, M; Barsi, P; Boon, P; Carmichael, DW; Carrette, E; Craiu, D; Cross, JH; Diehl, B; Dimova, P; Fabo, D; Francione, S; Gaskin, V; Gil-Nagel, A; Grigoreva, E; Guekht, A; Hirsch, E; Hecimovic, H; Helmstaedter, C; Jung, J; Kalviainen, R; Kelemen, A; Kimiskidis, V; Kobulashvili, T; Krsek, P; Kuchukhidze, G; Larsson, PG; Leitinger, M; Lossius, MI; Luzin, R; Malmgren, K; Mameniskiene, R; Marusic, P; Metin, B; Özkara, C; Pecina, H; Quesada, CM; Rugg-Gunn, F; Rydenhag, B; Ryvlin, P; Scholly, J; Seeck, M; Staack, AM; Steinhoff, BJ; Stepanov, V; Tarta-Arsene, O; Trinka, E; Uzan, M; Vogt, VL; Vos, SB; Vulliémoz, S; Huiskamp, G; Leijten, FS; Van Eijsden, P; Braun, KP; E-PILEPSY consortium, .; - view fewer (2016) Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe. Epilepsia , 57 (5) pp. 770-776. 10.1111/epi.13347.

Moutsiana, C; de Haas, B; Papageorgiou, A; van Dijk, JA; Balraj, A; Greenwood, JA; Schwarzkopf, DS; (2016) Cortical idiosyncrasies predict the perception of object size. Nature Communications , 7 , Article 12110. 10.1038/ncomms12110.

Muhly, WT; Taylor, E; Razavi, C; Walker, SM; Yang, L; de Graaff, JC; Vutskits, L; ... Pediatric Perioperative Outcomes Group, .; + view all Muhly, WT; Taylor, E; Razavi, C; Walker, SM; Yang, L; de Graaff, JC; Vutskits, L; Davidson, A; Zuo, Y; Pérez-Pradilla, C; Echeverry, P; Torborg, AM; Xu, T; Rawlinson, E; Subramanyam, R; Whyte, S; Seal, R; M Meyer, H; Yaddanapudi, S; Goobie, SM; Cravero, JP; Keaney, A; Graham, MR; Ramo, T; Stricker, PA; Pediatric Perioperative Outcomes Group, .; - view fewer (2020) A systematic review of outcomes reported inpediatric perioperative research: A report from the Pediatric Perioperative Outcomes Group. Pediatric Anesthesia , 30 (11) pp. 1166-1182. 10.1111/pan.13981.

Mullally, SL; Vargha-Khadem, F; Maguire, EA; (2014) Scene construction in developmental amnesia: An fMRI study. Neuropsychologia , 52 pp. 1-10. 10.1016/j.neuropsychologia.2013.11.001.

Munot, P; McCrea, N; Torelli, S; Manzur, A; Sewry, C; Chambers, D; Feng, L; ... Muntoni, F; + view all Munot, P; McCrea, N; Torelli, S; Manzur, A; Sewry, C; Chambers, D; Feng, L; Ala, P; Zaharieva, I; Ragge, N; Roper, H; Marton, T; Cox, P; Milev, MP; Liang, W-C; Maruyama, S; Nishino, I; Sacher, M; Phadke, R; Muntoni, F; - view fewer (2022) TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain. Neuropathology and Applied Neurobiology , 48 (2) , Article e12771. 10.1111/nan.12771.

Muñoz Maniega, S; Bastin, ME; Deary, IJ; Wardlaw, JM; Clayden, JD; (2017) Reference tracts and generative models for brain white matter tractography. Journal of Imaging , 4 (1) p. 8. 10.3390/jimaging4010008.

Munoz-Lopez, M; Hoskote, A; Chadwick, MJ; Dzieciol, AM; Gadian, DG; Chong, K; Banks, T; ... Vargha-Khadem, F; + view all Munoz-Lopez, M; Hoskote, A; Chadwick, MJ; Dzieciol, AM; Gadian, DG; Chong, K; Banks, T; de Haan, M; Baldeweg, T; Mishkin, M; Vargha-Khadem, F; - view fewer (2017) Hippocampal damage and memory impairment in congenital cyanotic heart disease. HIPPOCAMPUS , 27 (4) pp. 417-424. 10.1002/hipo.22700.

Muntoni, Francesco; Byrne, Barry J; McMillan, Hugh J; Ryan, Monique M; Wong, Brenda L; Dukart, Juergen; Bansal, Amita; ... Taldefgrobep Alfa Study Group; + view all Muntoni, Francesco; Byrne, Barry J; McMillan, Hugh J; Ryan, Monique M; Wong, Brenda L; Dukart, Juergen; Bansal, Amita; Cosson, Valerie; Dreghici, Roxana; Guridi, Maitea; Rabbia, Michael; Staunton, Hannah; Tirucherai, Giridhar S; Yen, Karl; Yuan, Xiling; Wagner, Kathryn R; Taldefgrobep Alfa Study Group; - view fewer (2024) The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy. Neurology and Therapy 10.1007/s40120-023-00570-w. (In press).

Muntoni, Francesco; Guglieri, Michela; Mah, Jean K; Wagner, Kathryn R; Brandsema, John F; Butterfield, Russell J; McDonald, Craig M; ... Mercuri, Eugenio; + view all Muntoni, Francesco; Guglieri, Michela; Mah, Jean K; Wagner, Kathryn R; Brandsema, John F; Butterfield, Russell J; McDonald, Craig M; Mayhew, Anna G; Palmer, Jeffrey P; Marraffino, Shannon; Charnas, Lawrence; Mercuri, Eugenio; - view fewer (2022) Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PLoS One , 17 (8) , Article e0272858. 10.1371/journal.pone.0272858.

Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Goemans, Nathalie; Wong, Brenda; Tian, Cuixia; Mercuri, Eugenio; ... North Star Clinical Network, PRO-DMD-01 Study, The Association F; + view all Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Goemans, Nathalie; Wong, Brenda; Tian, Cuixia; Mercuri, Eugenio; Done, Nicolae; Wong, Hallee; Moss, Jackson; Yao, Zhiwen; Ward, Susan J; Manzur, Adnan; Servais, Laurent; Niks, Erik H; Straub, Volker; de Groot, Imelda Jm; McDonald, Craig; North Star Clinical Network, PRO-DMD-01 Study, The Association F; - view fewer (2022) Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls. Neuromuscular Disorders 10.1016/j.nmd.2022.02.009. (In press).

Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Lane, Henry; Jenkins, Madeline; Dieye, Ibrahima; Ward, Susan J; ... Aartsma-Rus, Annemieke; + view all Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Lane, Henry; Jenkins, Madeline; Dieye, Ibrahima; Ward, Susan J; McDonald, Craig; Goemans, Nathalie; Niks, Erik H; Wong, Brenda; Servais, Laurent; Straub, Volker; Guglieri, Michela; de Groot, Imelda JM; Chesshyre, Mary; Tian, Cuixia; Manzur, Adnan Y; Mercuri, Eugenio; Aartsma-Rus, Annemieke; - view fewer (2023) DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology , 100 (15) e1540-e1554. 10.1212/WNL.0000000000201626.

Muntoni, Francesco; Straub, Volker; Servais, Laurent; Mercuri, Eugenio; (2023) Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases , 10 (6) pp. 1151-1153. 10.3233/JND-239004.

Muntoni, F; Bertini, E; Comi, G; Kirschner, J; Lusakowska, A; Mercuri, E; Scoto, M; ... Fuerst-Recktenwald, S; + view all Muntoni, F; Bertini, E; Comi, G; Kirschner, J; Lusakowska, A; Mercuri, E; Scoto, M; van der Pol, WL; Vuillerot, C; Burdeska, A; El-Khairi, M; Fontoura, P; Ives, J; Gorni, K; Reid, C; Fuerst-Recktenwald, S; - view fewer (2020) Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial. Neuromuscular Disorders , 30 (12) pp. 959-969. 10.1016/j.nmd.2020.10.008.

Muntoni, F; Desguerre, I; Guglieri, M; Osorio, AN; Kirschner, J; Tulinius, M; Buccella, F; ... Mercuri, E; + view all Muntoni, F; Desguerre, I; Guglieri, M; Osorio, AN; Kirschner, J; Tulinius, M; Buccella, F; Elfring, G; Werner, C; Schilling, T; Trifillis, P; Zhang, O; Delage, A; Santos, CL; Mercuri, E; - view fewer (2019) Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. Journal of Comparative Effectiveness Research 10.2217/cer-2019-0086. (In press).

Muntoni, F; Domingos, J; Manzur, AY; Mayhew, A; Guglieri, M; UK NorthStar Network, .; Sajeev, G; ... Ward, SJ; + view all Muntoni, F; Domingos, J; Manzur, AY; Mayhew, A; Guglieri, M; UK NorthStar Network, .; Sajeev, G; Signorovitch, J; Ward, SJ; - view fewer (2019) Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS One , 14 (9) , Article e0221097. 10.1371/journal.pone.0221097.

Muntoni, F; Tejura, B; Spinty, S; Roper, H; Hughes, I; Layton, G; Davies, KE; ... Tinsley, J; + view all Muntoni, F; Tejura, B; Spinty, S; Roper, H; Hughes, I; Layton, G; Davies, KE; Harriman, S; Tinsley, J; - view fewer (2019) A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet. Clinical Pharmacology in Drug Development , 8 (7) pp. 922-933. 10.1002/cpdd.642.

Murdoch, Russell; Stotesbury, Hanne; Hales, Patrick W; Kawadler, Jamie M; Kölbel, Melanie; Clark, Christopher A; Kirkham, Fenella J; Murdoch, Russell; Stotesbury, Hanne; Hales, Patrick W; Kawadler, Jamie M; Kölbel, Melanie; Clark, Christopher A; Kirkham, Fenella J; Shmueli, Karin; - view fewer (2022) A Comparison of MRI Quantitative Susceptibility Mapping and TRUST-Based Measures of Brain Venous Oxygen Saturation in Sickle Cell Anaemia. Frontiers in Psychology , 13 , Article 913443. 10.3389/fphys.2022.913443.

Murdoch, R; Kawadler, J; Carmichael, D; Kirkham, F; Shmueli, K; (2020) Can multi-parametric mapping sequences be used for accurate quantitative susceptibility mapping? In: Proceedings of the 2020 ISMRM & SMRT VIRTUAL CONFERENCE & EXHIBITION. (pp. pp. 1-3). International Society for Magnetic Resonance in Medicine (ISMRM)

Murdoch, R; Kawadler, J; Kirkham, F; Shmueli, K; (2019) MRI susceptibility mapping suggests elevated brain iron in sickle cell anaemia. In: Proceedings of the ISMRM 27th Annual Meeting & Exhibition. SMRT 28th Annual Meeting. (pp. pp. 1-3). International Society for Magnetic Resonance in Medicine (ISMRM)

Murdoch, R; Kawadler, J; Kirkham, F; Shmueli, K; (2018) Investigating the effect of prior stroke on regional brain iron concentrations in children with sickle cell anaemia using MRI susceptibility mapping. In: Proceedings of the Joint Annual Meeting ISMRM-ESMRMB 2018. SMRT 27th Annual Meeting. (pp. pp. 1-3). : International Society for Magnetic Resonance in Medicine (ISMRM).

Murdoch, R; Stotesbury, H; Kawadler, J; Kirkham, F; Shmueli, K; (2019) MRI susceptibility mapping shows decreased venous oxygen saturation in sickle cell anaemia. In: Proceedings of the ISMRM 27th Annual Meeting & Exhibition. SMRT 28th Annual Meeting. (pp. pp. 1-3). International Society for Magnetic Resonance in Medicine (ISMRM)

Muschelli, J; Gherman, A; Fortin, J-P; Avants, B; Whitcher, B; Clayden, JD; Caffo, BS; Muschelli, J; Gherman, A; Fortin, J-P; Avants, B; Whitcher, B; Clayden, JD; Caffo, BS; Crainiceanu, CM; - view fewer (2018) Neuroconductor: an R platform for medical imaging analysis. Biostatistics , Article kxx068. 10.1093/biostatistics/kxx068. (In press).

Muses, S; Morgan, JE; Wells, DJ; (2012) Restoration of dystrophin expression using the Sleeping Beauty transposon. PLoS Currents Muscular Dystrophy , 3 , Article RRN1296. 10.1371/currents.RRN1296.

Muses, S; Morgan, JE; Wells, DJ; (2011) A New Extensively Characterised Conditionally Immortal Muscle Cell-Line for Investigating Therapeutic Strategies in Muscular Dystrophies. PLOS ONE , 6 (9) , Article e24826. 10.1371/journal.pone.0024826.

Myers, KA; Lightfoot, P; Patil, SG; Cross, JH; Scheffer, IE; (2018) Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study. Developmental Medicine and Child Neurology , 60 (6) pp. 574-578. 10.1111/dmcn.13704.

Myers, KA; Marini, C; Carvill, GL; McTague, A; Panetta, J; Stutterd, C; Stanley, T; ... Scheffer, IE; + view all Myers, KA; Marini, C; Carvill, GL; McTague, A; Panetta, J; Stutterd, C; Stanley, T; Marin, S; Nguyen, J; Barba, C; Rosati, A; Scott, RH; Mefford, HC; Guerrini, R; Scheffer, IE; - view fewer (2021) Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurology Genetics , 7 (2) e579-e579. 10.1212/nxg.0000000000000579.

N

Naarding, Karin; Stimpson, Georgia; Ward, Susan J; Goemans, Nathalie; McDonald, Craig; Mercuri, Eugenio; Muntoni, Francesco; (2023) 269th ENMC International Workshop:10 years of Clinical trials in DMD – What have we learned? 9–11 December 2022, The Netherlands. Neuromuscular Disorders , 33 (11) pp. 897-910. 10.1016/j.nmd.2023.10.003.

Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Kingswood, JC; + view all Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; O'Callaghan, F; Qin, J; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; Kingswood, JC; - view fewer (2021) Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry. Frontiers in Neurology , 12 , Article 697467. 10.3389/fneur.2021.697467.

Nabbout, Rima; Kuchenbuch, Mathieu; Tinuper, Paolo; Cross, J Helen; Wirrell, Elaine; (2022) 3D figure of epilepsy syndromes. Epilepsia Open 10.1002/epi4.12665. (In press).

Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... TOSCA Consortium and TOSCA Investigators; + view all Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D Amato, L; d'Augères, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, A; Kingswood, JC; TOSCA Consortium and TOSCA Investigators; - view fewer (2019) Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Epilepsia Open , 4 (1) pp. 73-84. 10.1002/epi4.12286.

Naeem, K; Filippi, R; Periche-Tomas, E; Papageorgiou, A; Bright, P; (2018) The Importance of Socioeconomic Status as a Modulator of the Bilingual Advantage in Cognitive Ability. Frontiers in Psychology , 9 , Article 1818. 10.3389/fpsyg.2018.01818.

Nahum, AS; Liégeois, FJ; (2020) Language after childhood hemispherectomy: A systematic review. Neurology , 95 (23) pp. 1043-1056. 10.1212/WNL.0000000000011073.

Najm, Imad; Lal, Dennis; Alonso Vanegas, Mario; Cendes, Fernando; Lopes-Cendes, Iscia; Palmini, Andre; Paglioli, Eliseu; ... Blümcke, Ingmar; + view all Najm, Imad; Lal, Dennis; Alonso Vanegas, Mario; Cendes, Fernando; Lopes-Cendes, Iscia; Palmini, Andre; Paglioli, Eliseu; Sarnat, Harvey B; Walsh, Christopher A; Wiebe, Samuel; Aronica, Eleonora; Baulac, Stéphanie; Coras, Roland; Kobow, Katja; Cross, J Helen; Garbelli, Rita; Holthausen, Hans; Rössler, Karl; Thom, Maria; El-Osta, Assam; Lee, Jeong Ho; Miyata, Hajime; Guerrini, Renzo; Piao, Yue-Shan; Zhou, Dong; Blümcke, Ingmar; - view fewer (2022) The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 10.1111/epi.17301. (In press).

Nasca, A; Scotton, C; Zaharieva, I; Neri, M; Selvatici, R; Magnusson, OT; Gal, A; ... Ghezzi, D; + view all Nasca, A; Scotton, C; Zaharieva, I; Neri, M; Selvatici, R; Magnusson, OT; Gal, A; Weaver, D; Rossi, R; Armaroli, A; Pane, M; Phadke, R; Sarkozy, A; Muntoni, F; Hughes, I; Cecconi, A; Hajnóczky, G; Donati, A; Mercuri, E; Zeviani, M; Ferlini, A; Ghezzi, D; - view fewer (2017) Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Human Mutation , 38 (8) pp. 970-977. 10.1002/humu.23262.

Natera-de Benito, Daniel; Jurgens, Julie A; Yeung, Alison; Zaharieva, Irina T; Manzur, Adnan; DiTroia, Stephanie P; Di Gioia, Silvio Alessandro; ... Muntoni, Francesco; + view all Natera-de Benito, Daniel; Jurgens, Julie A; Yeung, Alison; Zaharieva, Irina T; Manzur, Adnan; DiTroia, Stephanie P; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J; Chan, Wai-Man; Elder, James E; Christodoulou, John; Hay, Eleanor; England, Eleina M; Munot, Pinki; Hunter, David G; Feng, Lucy; Ledoux, Danielle; O'Donnell-Luria, Anne; Phadke, Rahul; Engle, Elizabeth C; Sarkozy, Anna; Muntoni, Francesco; - view fewer (2022) Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human Mutation , 43 (4) pp. 487-498. 10.1002/humu.24333.

Nayyer, L; (2014) Design and Development of a Synthetic POSS-Nanocomposite Implant for Auricular Reconstruction. Doctoral thesis , UCL (University College London).

Ndiritu, M; Cowgill, KD; Ismail, A; Chiphatsi, S; Kamau, T; Fegan, G; Feikin, DR; ... Scott, JAG; + view all Ndiritu, M; Cowgill, KD; Ismail, A; Chiphatsi, S; Kamau, T; Fegan, G; Feikin, DR; Newton, CRJC; Scott, JAG; - view fewer (2006) Immunization coverage and risk factors for failure to immunize within the Expanded Programme on Immunization in Kenya after introduction of new Haemophilus influenzae type b and hepatitis b virus antigens. BMC Public Health , 6 , Article 132. 10.1186/1471-2458-6-132.

Neal, A; Boldrin, L; Morgan, JE; (2012) The satellite cell in male and female, developing and adult mouse muscle: distinct stem cells for growth and regeneration. PLoS One , 7 (5) , Article e37950. 10.1371/journal.pone.0037950.

Neaverson, Alexandra; Andersson, Malin HL; Arshad, Osama A; Foulser, Luke; Goodwin-Trotman, Mary; Hunter, Adam; Newman, Ben; ... Gerety, Sebastian S; + view all Neaverson, Alexandra; Andersson, Malin HL; Arshad, Osama A; Foulser, Luke; Goodwin-Trotman, Mary; Hunter, Adam; Newman, Ben; Patel, Minal; Roth, Charlotte; Thwaites, Tristan; Kilpinen, Helena; Hurles, Matthew E; Day, Andrew; Gerety, Sebastian S; - view fewer (2022) Differentiation of human induced pluripotent stem cells into cortical neural stem cells. Frontiers in Cell and Developmental Biology , 10 , Article 1023340. 10.3389/fcell.2022.1023340.

Nedjati-Gilani, GL; Schneider, T; Hall, MG; Cawley, N; Hill, I; Ciccarelli, O; Drobnjak, I; ... Alexander, DC; + view all Nedjati-Gilani, GL; Schneider, T; Hall, MG; Cawley, N; Hill, I; Ciccarelli, O; Drobnjak, I; Wheeler-Kingshott, CA; Alexander, DC; - view fewer (2017) Machine learning based compartment models with permeability for white matter microstructure imaging. NeuroImage , 150 pp. 119-135. 10.1016/j.neuroimage.2017.02.013.

Nemani, T; Steel, D; Kaliakatsos, M; DeVile, C; Ververi, A; Scott, R; Getov, S; ... Munot, P; + view all Nemani, T; Steel, D; Kaliakatsos, M; DeVile, C; Ververi, A; Scott, R; Getov, S; Sudhakar, S; Male, A; Mankad, K; Genomics England Research Consortium; Muntoni, F; Reilly, MM; Kurian, MA; Carr, L; Munot, P; - view fewer (2020) KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement. Journal of the Peripheral Nervous System , 25 (2) pp. 117-124. 10.1111/jns.12368.

Neri, M; Rossi, R; Trabanelli, C; Mauro, A; Selvatici, R; Falzarano, MS; Spedicato, N; ... Ferlini, A; + view all Neri, M; Rossi, R; Trabanelli, C; Mauro, A; Selvatici, R; Falzarano, MS; Spedicato, N; Margutti, A; Rimessi, P; Fortunato, F; Fabris, M; Gualandi, F; Comi, G; Tedeschi, S; Seia, M; Fiorillo, C; Traverso, M; Bruno, C; Giardina, E; Piemontese, MR; Merla, G; Cau, M; Marica, M; Scuderi, C; Borgione, E; Tessa, A; Astrea, G; Santorelli, FM; Merlini, L; Mora, M; Bernasconi, P; Gibertini, S; Sansone, V; Mongini, T; Berardinelli, A; Pini, A; Liguori, R; Filosto, M; Messina, S; Vita, G; Toscano, A; Vita, G; Pane, M; Servidei, S; Pegoraro, E; Bello, L; Travaglini, L; Bertini, E; D'Amico, A; Ergoli, M; Politano, L; Torella, A; Nigro, V; Mercuri, E; Ferlini, A; - view fewer (2020) The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. Frontiers in Genetics , 11 , Article 131. 10.3389/fgene.2020.00131.

Nery, F; Buchanan, CE; Harteveld, AA; Odudu, A; Bane, O; Cox, EF; Derlin, K; ... Fernández-Seara, MA; + view all Nery, F; Buchanan, CE; Harteveld, AA; Odudu, A; Bane, O; Cox, EF; Derlin, K; Gach, HM; Golay, X; Gutberlet, M; Laustsen, C; Ljimani, A; Madhuranthakam, AJ; Pedrosa, I; Prasad, PV; Robson, PM; Sharma, K; Sourbron, S; Taso, M; Thomas, DL; Wang, DJJ; Zhang, JL; Alsop, DC; Fain, SB; Francis, ST; Fernández-Seara, MA; - view fewer (2019) Consensus-based technical recommendations for clinical translation of renal ASL MRI. Magnetic Resonance Materials in Physics, Biology and Medicine 10.1007/s10334-019-00800-z. (In press).

Nery, F; De Vita, E; Clark, CA; Gordon, I; Thomas, DL; (2018) Robust kidney perfusion mapping in pediatric chronic kidney disease using single-shot 3D-GRASE ASL with optimized retrospective motion correction. Magnetic Resonance in Medicine 10.1002/mrm.27614. (In press).

Nery, F; Gordon, I; Thomas, DL; (2018) Non-Invasive Renal Perfusion Imaging Using Arterial Spin Labeling MRI: Challenges and Opportunities. Diagnostics , 8 (1) , Article 2. 10.3390/diagnostics8010002.

Nery, F; Szczepankiewicz, F; Kerkelä, L; Hall, MG; Kaden, E; Gordon, I; Thomas, DL; Nery, F; Szczepankiewicz, F; Kerkelä, L; Hall, MG; Kaden, E; Gordon, I; Thomas, DL; Clark, CA; - view fewer (2019) In vivo demonstration of microscopic anisotropy in the human kidney using multidimensional diffusion MRI. Magnetic Resonance in Medicine , 82 (6) pp. 2160-2168. 10.1002/mrm.27869.

Neuray, C; Maroofian, R; Scala, M; Sultan, T; Pai, GS; Mojarrad, M; El Khashab, H; ... Houlden, H; + view all Neuray, C; Maroofian, R; Scala, M; Sultan, T; Pai, GS; Mojarrad, M; El Khashab, H; DeHoll, L; Yue, W; Alsaif, HS; Zanetti, MN; Bello, O; Person, R; Eslahi, A; Khazaei, Z; Feizabadi, MH; Efthymiou, S; SYNaPS Study Group; El-Bassyouni, HT; Soliman, DR; Tekes, S; Ozer, L; Baltaci, V; Khan, S; Beetz, C; Amr, KS; Salpietro, V; Jamshidi, Y; Alkuraya, FS; Houlden, H; - view fewer (2020) Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain 10.1093/brain/awaa178. (In press).

Newall, N; Smith, BG; Burton, O; Chari, A; Kolias, AG; Hutchinson, PJ; Alamri, A; ... Tumpa, S; + view all Newall, N; Smith, BG; Burton, O; Chari, A; Kolias, AG; Hutchinson, PJ; Alamri, A; Uff, C; Adegboyega, G; Ali, M; Chiuta, S; Evans, G; Hurley, P; Mantle, O; Ota, C; Perera, D; Siig, C; Tumpa, S; - view fewer (2021) Improving Neurosurgery Education Using Social Media Case-Based Discussions: A Pilot Study. World Neurosurgery: X , 11 , Article 100103. 10.1016/j.wnsx.2021.100103.

Ng, Joanne; Barral, Serena; Waddington, Simon N; Kurian, Manju A; (2023) Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches. Cells , 12 (13) , Article 1737. 10.3390/cells12131737.

Ng, Joanne; Barral, Serena; Waddington, Simon N; Kurian, Manju A; (2023) Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases. Movement Disorders 10.1002/mds.29416. (In press).

Ng, J; (2017) A gene therapy approach to Childhood Parkinsonism. Doctoral thesis , UNSPECIFIED.

Ng, J; Barral, S; Barrigon, CDLF; Lignani, G; Erdem, FA; Wallings, R; Privolizzi, R; ... Kurian, MA; + view all Ng, J; Barral, S; Barrigon, CDLF; Lignani, G; Erdem, FA; Wallings, R; Privolizzi, R; Rossignoli, G; Alrashidi, H; Heasman, S; Meyer, E; Ngoh, A; Pope, S; Karda, R; Perocheau, D; Baruteau, J; Suff, N; Diaz, JA; Schorge, S; Vowles, J; Marshall, LR; Cowley, SA; Sucic, S; Freissmuth, M; Counsell, JR; Wade-Martins, R; Heales, SJR; Rahim, AA; Bencze, M; Waddington, SN; Kurian, MA; - view fewer (2021) Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism. Science Translational Medicine , 13 (594) , Article eaaw1564. 10.1126/scitranslmed.aaw1564.

Ng, J; Cortès-Saladelafont, E; Abela, L; Termsarasab, P; Mankad, K; Sudhakar, S; Gorman, KM; ... Kurian, MA; + view all Ng, J; Cortès-Saladelafont, E; Abela, L; Termsarasab, P; Mankad, K; Sudhakar, S; Gorman, KM; Heales, SJR; Pope, S; Biassoni, L; Csányi, B; Cain, J; Rakshi, K; Coutts, H; Jayawant, S; Jefferson, R; Hughes, D; García-Cazorla, À; Grozeva, D; Raymond, FL; Pérez-Dueñas, B; De Goede, C; Pearson, TS; Meyer, E; Kurian, MA; - view fewer (2020) DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia. Movement Disorders 10.1002/mds.28063. (In press).

Ng, J; Heales, SJ; Kurian, MA; (2014) Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders. Pediatric Drugs , 16 (4) pp. 275-291. 10.1007/s40272-014-0079-z.

Ng, J; Zhen, J; Meyer, E; Erreger, K; Li, Y; Kakar, N; Ahmad, J; ... Kurian, MA; + view all Ng, J; Zhen, J; Meyer, E; Erreger, K; Li, Y; Kakar, N; Ahmad, J; Thiele, H; Kubisch, C; Rider, NL; Holmes Morton, D; Strauss, KA; Puffenberger, EG; D'Agnano, D; Anikster, Y; Carducci, C; Hyland, K; Rotstein, M; Leuzzi, V; Borck, G; Reith, ME; Kurian, MA; - view fewer (2014) Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain , 137 (4) 1107 - 1119. 10.1093/brain/awu022.

Ngoh, A; Bras, J; Guerreiro, R; McTague, A; Ng, J; Meyer, E; Chong, WK; ... Kurian, MA; + view all Ngoh, A; Bras, J; Guerreiro, R; McTague, A; Ng, J; Meyer, E; Chong, WK; Boyd, S; MacLellan, L; Kirkpatrick, M; Kurian, MA; - view fewer (2017) TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. Tremor and other Hyperkinetic Movements , 7 10.7916/D8Q52VBV.

Ngoh, A; Bras, J; Guerreiro, R; Meyer, E; McTague, A; Dawson, E; Mankad, K; ... Kurian, MA; + view all Ngoh, A; Bras, J; Guerreiro, R; Meyer, E; McTague, A; Dawson, E; Mankad, K; Gunny, R; Clayton, P; Mills, PB; Thornton, R; Lai, M; Forsyth, R; Kurian, MA; - view fewer (2016) RARS2 mutations in a sibship with infantile spasms. Epilepsia , 57 (5) e97-e102. 10.1111/epi.13358.

Ngoh, A; McTague, A; Wentzensen, IM; Meyer, E; Applegate, C; Kossoff, EH; Batista, DA; ... Kurian, MA; + view all Ngoh, A; McTague, A; Wentzensen, IM; Meyer, E; Applegate, C; Kossoff, EH; Batista, DA; Wang, T; Kurian, MA; - view fewer (2014) Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. Dev Med Child Neurol , 56 (11) 1124 - 1128. 10.1111/dmcn.12450.

Nguyen, Ngoc Uyen Nhi; Canseco, Diana C; Xiao, Feng; Nakada, Yuji; Li, Shujuan; Lam, Nicholas T; Muralidhar, Shalini A; ... Sadek, Hesham A; + view all Nguyen, Ngoc Uyen Nhi; Canseco, Diana C; Xiao, Feng; Nakada, Yuji; Li, Shujuan; Lam, Nicholas T; Muralidhar, Shalini A; Savla, Jainy J; Hill, Joseph A; Le, Victor; Zidan, Kareem A; El-Feky, Hamed W; Wang, Zhaoning; Ahmed, Mahmoud Salama; Hubbi, Maimon E; Menendez-Montes, Ivan; Moon, Jesung; Ali, Shah R; Le, Victoria; Villalobos, Elisa; Mohamed, Magid S; Elhelaly, Waleed M; Thet, Suwannee; Anene-Nzelu, Chukwuemeka George; Tan, Wilson Lek Wen; Foo, Roger S; Meng, Xun; Kanchwala, Mohammed; Xing, Chao; Roy, Jagoree; Cyert, Martha S; Rothermel, Beverly A; Sadek, Hesham A; - view fewer (2020) A calcineurin–Hoxb13 axis regulates growth mode of mammalian cardiomyocytes. Nature , 582 pp. 271-276. 10.1038/s41586-020-2228-6.

Nielsen, BW; Scott, RC; (2017) Brain abnormalities in fetuses: in-utero MRI versus ultrasound. Lancet , 389 (10068) pp. 483-485. 10.1016/S0140-6736(16)32565-X.

Nkya, S; Mgaya, J; Urio, F; Makubi, A; Thein, SL; Menzel, S; Cox, SE; ... Makani, J; + view all Nkya, S; Mgaya, J; Urio, F; Makubi, A; Thein, SL; Menzel, S; Cox, SE; Newton, CR; Kirkham, FJ; Mmbando, BP; Makani, J; - view fewer (2017) Fetal Hemoglobin is Associated with Peripheral Oxygen Saturation in Sickle Cell Disease in Tanzania. EBioMedicine 10.1016/j.ebiom.2017.08.006. (In press).

Nolden, Kelsey A; Egner, John M; Collier, Jack J; Russell, Oliver M; Alston, Charlotte L; Harwig, Megan C; Widlansky, Michael E; ... Oláhová, Monika; + view all Nolden, Kelsey A; Egner, John M; Collier, Jack J; Russell, Oliver M; Alston, Charlotte L; Harwig, Megan C; Widlansky, Michael E; Sasorith, Souphatta; Barbosa, Inês A; Douglas, Andrew Gl; Baptista, Julia; Walker, Mark; Donnelly, Deirdre E; Morris, Andrew A; Tan, Hui Jeen; Kurian, Manju A; Gorman, Kathleen; Mordekar, Santosh; Deshpande, Charu; Samanta, Rajib; McFarland, Robert; Hill, R Blake; Taylor, Robert W; Oláhová, Monika; - view fewer (2022) Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance , 5 (12) , Article e202101284. 10.26508/lsa.202101284.

Nolte, IM; Jansweijer, JA; Riese, H; Asselbergs, FW; van der Harst, P; Spector, TD; Pinto, YM; ... Jamshidi, Y; + view all Nolte, IM; Jansweijer, JA; Riese, H; Asselbergs, FW; van der Harst, P; Spector, TD; Pinto, YM; Snieder, H; Jamshidi, Y; - view fewer (2017) A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits. Twin Research and Human Genetics , 20 (6) pp. 489-498. 10.1017/thg.2017.55.

Nolte, IM; Wallace, C; Newhouse, SJ; Waggott, D; Fu, JY; Soranzo, N; Gwilliam, R; ... QTSCD Consortium; + view all Nolte, IM; Wallace, C; Newhouse, SJ; Waggott, D; Fu, JY; Soranzo, N; Gwilliam, R; Deloukas, P; Savelieva, I; Zheng, DL; Dalageorgou, C; Farrall, M; Samani, NJ; Connell, J; Brown, M; Dominiczak, A; Lathrop, M; Zeggini, E; Wain, LV; Newton-Cheh, C; Eijgelsheim, M; Rice, K; de Bakker, PIW; Pfeufer, A; Sanna, S; Arking, DE; Asselbergs, FW; Spector, TD; Carter, ND; Jeffery, S; Tobin, M; Caulfield, M; Snieder, H; Paterson, AD; Munroe, PB; Jamshidi, Y; Wellcome Trust Case Control Consor; DCCT EDIC Res Grp; QTGEN Consortium; QTSCD Consortium; - view fewer (2009) Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies. PLOS ONE , 4 (7) , Article e6138. 10.1371/journal.pone.0006138.

Norman, W; Jawad, N; Jones, R; Taylor, AM; Arthurs, OJ; (2016) Perinatal and paediatric post-mortem magnetic resonance imaging (PMMR): sequences and technique. British Journal of Radiology , 89 (1062) , Article 20151028. 10.1259/bjr.20151028.

Norris, Jamie; Chari, Aswin; Van Blooijs, Dorien; Cooray, Gerald K; Friston, Karl; Tisdall, Martin M; Rosch, Richard E; (2024) Localising the Seizure Onset Zone from Single-Pulse Electrical Stimulation Responses with a CNN Transformer. In: Deshpande, Kaivalya and Fiterau, Madalina and Joshi, Shalmali and Lipton, Zachary and Ranganath, Rajesh and Urteaga, Iñigo, (eds.) Proceedings of the 9th Machine Learning for Healthcare Conference: PMLR. (pp. pp. 1-21). PMLR: Toronto, Canada.

Northam, GB; Adler, S; Eschmann, KCJ; Chong, WK; Cowan, FM; Baldeweg, T; (2018) Developmental conduction aphasia after neonatal stroke. Annals of Neurology , 83 (4) pp. 664-675. 10.1002/ana.25218.

Northam, GB; Liégeois, F; Chong, WK; Baker, K; Tournier, JD; Wyatt, JS; Baldeweg, T; Northam, GB; Liégeois, F; Chong, WK; Baker, K; Tournier, JD; Wyatt, JS; Baldeweg, T; Morgan, A; - view fewer (2012) Speech and oromotor outcome in adolescents born preterm: relationship to motor tract integrity. The Journal of Pediatrics , 160 (3) 402 - 408.e1. 10.1016/j.jpeds.2011.08.055.

Northam, GB; Liégeois, F; Tournier, JD; Croft, LJ; Johns, PN; Chong, WK; Wyatt, JS; Northam, GB; Liégeois, F; Tournier, JD; Croft, LJ; Johns, PN; Chong, WK; Wyatt, JS; Baldeweg, T; - view fewer (2012) Interhemispheric temporal lobe connectivity predicts language impairment in adolescents born preterm. Brain , 135 (Pt 12) 3781 - 3798. 10.1093/brain/aws276.

Northam, GB; Morgan, AT; Fitzsimmons, S; Baldeweg, T; Liegeois, F; (2019) Corticobulbar Tract Injury, Oromotor Impairment and Language Plasticity in Adolescents Born Preterm. Frontiers in Human Neuroscience , 13 , Article 45. 10.3389/fnhum.2019.00045.

Northrup, H; Aronow, ME; Bebin, EM; Bissler, J; Darling, TN; de Vries, PJ; Frost, MD; ... Young, L; + view all Northrup, H; Aronow, ME; Bebin, EM; Bissler, J; Darling, TN; de Vries, PJ; Frost, MD; Fuchs, Z; Gosnell, ES; Gupta, N; Jansen, AC; Jóźwiak, S; Kingswood, JC; Knilans, TK; McCormack, FX; Pounders, A; Roberds, SL; Rodriguez-Buritica, DF; Roth, J; Sampson, JR; Sparagana, S; Thiele, EA; Weiner, HL; Wheless, JW; Towbin, AJ; Krueger, DA; Annear, NMP; Bartels, U; Berhouma, M; Bissler, JJ; Budde, K; Byars, A; Chugani, H; Cowen, EW; Crino, PB; Curatolo, P; de Vries, P; Dilling, DF; Dunn, DW; Ekong, R; Ess, KC; Franz, DN; Frost, M; Fuchs, ZDB; Guay-Woodford, L; Haddad, L; Halbert, A; Hebert, AA; Henske, EP; Holmes, GL; Hook, D; Hulbert, J; Jansen, A; Johnson, SR; King, B; Kingswood, JC; Koenig, MK; Korf, B; Kwiatkowski, DJ; Moss, J; Mowat, D; Mowrey, K; Nabbout, R; Nellist, MD; O'Callaghan, F; Patel, U; Roach, ES; Romp, R; Rozenberg, M; Ruoss, SJ; Sahin, M; Sampson, J; Samuels, JA; Sauter, M; Smith, CA; Soltani, K; Srivastava, S; Stuart, C; Teng, JMC; Thiele, EA; Trout, A; van Eeghen, A; Vanclooster, S; Wang, HZ; Wataya-Kaneda, M; Witman, P; Wright, T; Wu, JY; Young, L; - view fewer (2021) Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatric Neurology , 123 pp. 50-66. 10.1016/j.pediatrneurol.2021.07.011.

Novak, J; Zarinabad, N; Rose, H; Arvanitis, T; MacPherson, L; Pinkey, B; Oates, A; ... Peet, A; + view all Novak, J; Zarinabad, N; Rose, H; Arvanitis, T; MacPherson, L; Pinkey, B; Oates, A; Hales, P; Grundy, R; Auer, D; Gutierrez, DR; Jaspan, T; Avula, S; Abernethy, L; Kaur, R; Hargrave, D; Mitra, D; Bailey, S; Davies, N; Clark, C; Peet, A; - view fewer (2021) Classification of paediatric brain tumours by diffusion weighted imaging and machine learning. Scientific Reports , 11 , Article 2987. 10.1038/s41598-021-82214-3.

Novo Matos, J; Sargent, J; Silva, J; Payne, JR; Seo, J; Spalla, I; Borgeat, K; ... Luis Fuentes, V; + view all Novo Matos, J; Sargent, J; Silva, J; Payne, JR; Seo, J; Spalla, I; Borgeat, K; Loureiro, J; Pereira, N; Simcock, IC; Hutchinson, JC; Arthurs, OJ; Luis Fuentes, V; - view fewer (2023) Thin and hypokinetic myocardial segments in cats with cardiomyopathy. Journal of Veterinary Cardiology , 46 pp. 5-17. 10.1016/j.jvc.2023.02.002.

Novo Matos, J; Garcia-Canadilla, P; Simcock, IC; Hutchinson, JC; Dobromylskyj, M; Guy, A; Arthurs, OJ; ... Luis Fuentes, V; + view all Novo Matos, J; Garcia-Canadilla, P; Simcock, IC; Hutchinson, JC; Dobromylskyj, M; Guy, A; Arthurs, OJ; Cook, AC; Luis Fuentes, V; - view fewer (2020) Micro-computed tomography (micro-CT) for the assessment of myocardial disarray, fibrosis and ventricular mass in a feline model of hypertrophic cardiomyopathy. Scientific Reports , 10 , Article 20169. 10.1038/s41598-020-76809-5.

Ntalla, I; Weng, L-C; Cartwright, JH; Hall, AW; Sveinbjornsson, G; Tucker, NR; Choi, SH; ... Munroe, PB; + view all Ntalla, I; Weng, L-C; Cartwright, JH; Hall, AW; Sveinbjornsson, G; Tucker, NR; Choi, SH; Chaffin, MD; Roselli, C; Barnes, MR; Mifsud, B; Warren, HR; Hayward, C; Marten, J; Cranley, JJ; Concas, MP; Gasparini, P; Boutin, T; Kolcic, I; Polasek, O; Rudan, I; Araujo, NM; Lima-Costa, MF; Ribeiro, ALP; Souza, RP; Tarazona-Santos, E; Giedraitis, V; Ingelsson, E; Mahajan, A; Morris, AP; Del Greco M, F; Foco, L; Gögele, M; Hicks, AA; Cook, JP; Lind, L; Lindgren, CM; Sundström, J; Nelson, CP; Riaz, MB; Samani, NJ; Sinagra, G; Ulivi, S; Kähönen, M; Mishra, PP; Mononen, N; Nikus, K; Caulfield, MJ; Dominiczak, A; Padmanabhan, S; Montasser, ME; O'Connell, JR; Ryan, K; Shuldiner, AR; Aeschbacher, S; Conen, D; Risch, L; Thériault, S; Hutri-Kähönen, N; Lehtimäki, T; Lyytikäinen, L-P; Raitakari, OT; Barnes, CLK; Campbell, H; Joshi, PK; Wilson, JF; Isaacs, A; Kors, JA; van Duijn, CM; Huang, PL; Gudnason, V; Harris, TB; Launer, LJ; Smith, AV; Bottinger, EP; Loos, RJF; Nadkarni, GN; Preuss, MH; Correa, A; Mei, H; Wilson, J; Meitinger, T; Müller-Nurasyid, M; Peters, A; Waldenberger, M; Mangino, M; Spector, TD; Rienstra, M; van de Vegte, YJ; van der Harst, P; Verweij, N; Kääb, S; Schramm, K; Sinner, MF; Strauch, K; Cutler, MJ; Fatkin, D; London, B; Olesen, M; Roden, DM; Benjamin Shoemaker, M; Gustav Smith, J; Biggs, ML; Bis, JC; Brody, JA; Psaty, BM; Rice, K; Sotoodehnia, N; De Grandi, A; Fuchsberger, C; Pattaro, C; Pramstaller, PP; Ford, I; Wouter Jukema, J; Macfarlane, PW; Trompet, S; Dörr, M; Felix, SB; Völker, U; Weiss, S; Havulinna, AS; Jula, A; Sääksjärvi, K; Salomaa, V; Guo, X; Heckbert, SR; Lin, HJ; Rotter, JI; Taylor, KD; Yao, J; de Mutsert, R; Maan, AC; Mook-Kanamori, DO; Noordam, R; Cucca, F; Ding, J; Lakatta, EG; Qian, Y; Tarasov, KV; Levy, D; Lin, H; Newton-Cheh, CH; Lunetta, KL; Murray, AD; Porteous, DJ; Smith, BH; Stricker, BH; Uitterlinden, A; van den Berg, ME; Haessler, J; Jackson, RD; Kooperberg, C; Peters, U; Reiner, AP; Whitsel, EA; Alonso, A; Arking, DE; Boerwinkle, E; Ehret, GB; Soliman, EZ; Avery, CL; Gogarten, SM; Kerr, KF; Laurie, CC; Seyerle, AA; Stilp, A; Assa, S; Abdullah Said, M; Yldau van der Ende, M; Lambiase, PD; Orini, M; Ramirez, J; Van Duijvenboden, S; Arnar, DO; Gudbjartsson, DF; Holm, H; Sulem, P; Thorleifsson, G; Thorolfsdottir, RB; Thorsteinsdottir, U; Benjamin, EJ; Tinker, A; Stefansson, K; Ellinor, PT; Jamshidi, Y; Lubitz, SA; Munroe, PB; - view fewer (2020) Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. Nature Communications , 11 (1) , Article 2542. 10.1038/s41467-020-15706-x.

Nunes, ML; Yozawitz, EG; Zuberi, S; Mizrahi, EM; Cilio, MR; Moshé, SL; Plouin, P; ... Task Force on Neonatal Seizures, ILAE Commission on Classificati; + view all Nunes, ML; Yozawitz, EG; Zuberi, S; Mizrahi, EM; Cilio, MR; Moshé, SL; Plouin, P; Vanhatalo, S; Pressler, RM; Task Force on Neonatal Seizures, ILAE Commission on Classificati; - view fewer (2019) Neonatal seizures: Is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia Open , 4 (1) pp. 10-29. 10.1002/epi4.12298.

O

O'Callaghan, FJ; (2021) Prevention of infantile spasms in tuberous sclerosis complex. European Journal of Paediatric Neurology , 35 A5-A6. 10.1016/j.ejpn.2021.11.012.

O'Callaghan, F; (2019) Cannabis derived medicinal products in child neurology. Cannabis derived medicinal products in child neurology , 61 (6) p. 622. 10.1111/dmcn.14232.

O'Callaghan, FJ; Edwards, SW; Alber, FD; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; ... Osborne, JP; + view all O'Callaghan, FJ; Edwards, SW; Alber, FD; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; Lux, AL; Mackay, M; Mallick, AA; Newton, RW; Nolan, M; Pressler, R; Rating, D; Schmitt, B; Verity, CM; Osborne, JP; - view fewer (2016) Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurology , 16 (1) pp. 33-42. 10.1016/S1474-4422(16)30294-0.

O'Callaghan, FJK; Edwards, SW; Dietrich Alber, F; Cortina Borja, M; Hancock, E; Johnson, AL; Kennedy, CR; ... Osborne, JP; + view all O'Callaghan, FJK; Edwards, SW; Dietrich Alber, F; Cortina Borja, M; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; Lux, AL; Mackay, MT; Mallick, AA; Newton, RW; Nolan, M; Pressler, R; Rating, D; Schmitt, B; Verity, CM; Osborne, JP; - view fewer (2018) Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. The Lancet Child & Adolescent Health , 2 (10) pp. 715-725. 10.1016/S2352-4642(18)30244-X.

O'Cathail, SM; Wu, C-H; Lewis, A; Holmes, C; Hawkins, MA; Maughan, T; (2020) NRF2 metagene signature is a novel prognostic biomarker in colorectal cancer. Cancer Genetics , 248-49 pp. 1-10. 10.1016/j.cancergen.2020.08.006.

O'Connor, Graeme; Edel, Lisa; Raquq, Sarah; Bowerman, Melissa; Szmurlo, Agnieszka; Simpson, Zoe; Hardy, Isobel; ... Baranello, Giovanni; + view all O'Connor, Graeme; Edel, Lisa; Raquq, Sarah; Bowerman, Melissa; Szmurlo, Agnieszka; Simpson, Zoe; Hardy, Isobel; Fewtrell, Mary; Baranello, Giovanni; - view fewer (2023) Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study. Nutrition in Clinical Practice , 38 (4) pp. 871-880. 10.1002/ncp.10940.

O'Grady, GL; Lek, M; Lamande, SR; Waddell, L; Oates, EC; Punetha, J; Ghaoui, R; ... North, K; + view all O'Grady, GL; Lek, M; Lamande, SR; Waddell, L; Oates, EC; Punetha, J; Ghaoui, R; Sandaradura, SA; Best, H; Kaur, S; Davis, M; Laing, NG; Muntoni, F; Hoffman, E; MacArthur, DG; Clarke, NF; Cooper, S; North, K; - view fewer (2016) Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals of Neurology , 80 (1) pp. 101-111. 10.1002/ana.24687.

O'Keeffe, F; Liégeois, F; Eve, M; Ganesan, V; King, J; Murphy, T; (2013) Neuropsychological and neurobehavioral outcome following childhood arterial ischemic stroke: Attention deficits, emotional dysregulation, and executive dysfunction. Child Neuropsychol 10.1080/09297049.2013.832740.

O'Keeffe, F; Murphy, O; Ganesan, V; King, J; Murphy, T; (2017) Neuropsychological outcome following childhood stroke – a review. Brain Injury , 31 (12) pp. 1575-1589. 10.1080/02699052.2017.1332782.

O'Keeffe, F; Stark, D; Murphy, O; Ganesan, V; King, J; Murphy, T; (2017) Psychosocial outcome and quality of life following childhood stroke - A systematic review. Developmental Neurorehabilitation , 20 (7) pp. 428-442. 10.1080/17518423.2017.1282052.

O'Neill, HC; Pini, V; Muntoni, F; Morgan, J; (2017) Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies. Current Stem Cell Reports , 3 (2) pp. 137-148. 10.1007/s40778-017-0076-6.

O'Reilly, H; Eltze, C; Bennett, K; Verhaert, K; Webb, R; Merrett, A; Scott, RC; ... de Haan, M; + view all O'Reilly, H; Eltze, C; Bennett, K; Verhaert, K; Webb, R; Merrett, A; Scott, RC; Whitney, A; Helen Cross, J; de Haan, M; - view fewer (2018) Cognitive outcomes following epilepsy in infancy: A longitudinal community-based study. Epilepsia , 59 (12) pp. 2240-2248. 10.1111/epi.14589.

O'Reilly, MA; Bathelt, J; Sakkalou, E; Sakki, H; Salt, A; Dale, NJ; de Haan, M; (2017) Frontal EEG asymmetry and later behavior vulnerability in infants with congenital visual impairment. Clinical Neurophysiology , 128 (11) pp. 2191-2199. 10.1016/j.clinph.2017.08.016.

Odudu, A; Nery, F; Harteveld, AA; Evans, RG; Pendse, D; Buchanan, CE; Francis, ST; Odudu, A; Nery, F; Harteveld, AA; Evans, RG; Pendse, D; Buchanan, CE; Francis, ST; Fernández-Seara, MA; - view fewer (2018) Arterial spin labelling MRI to measure renal perfusion: a systematic review and statement paper. Nephrology Dialysis Transplantation , 33 (suppl_2) ii15-ii21. 10.1093/ndt/gfy180.

Olcese, C; Patel, MP; Shoemark, A; Kiviluoto, S; Legendre, M; Williams, HJ; Vaughan, CK; ... Mitchison, HM; + view all Olcese, C; Patel, MP; Shoemark, A; Kiviluoto, S; Legendre, M; Williams, HJ; Vaughan, CK; Hayward, J; Goldenberg, A; Emes, RD; Munye, MM; Dyer, L; Cahill, T; Bevillard, J; Gehrig, C; Guipponi, M; Chantot, S; Duquesnoy, P; Thomas, L; Jeanson, L; Copin, B; Tamalet, A; Thauvin-Robinet, C; Papon, JF; Garin, A; Pin, I; Vera, G; Aurora, P; Fassad, MR; Jenkins, L; Boustred, C; Cullup, T; Dixon, M; Onoufriadis, A; Bush, A; Chung, EM; Antonarakis, SE; Loebinger, MR; Wilson, R; Armengot, M; Escudier, E; Hogg, C; UK10K Rare Group; Amselem, S; Sun, Z; Bartoloni, L; Blouin, JL; Mitchison, HM; - view fewer (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications , 8 , Article 14279. 10.1038/ncomms14279.

Olivares, AL; Pons, MI; Mill, J; Matos, JN; Garcia-Canadilla, P; Cerrada, I; Guy, A; ... Camara, O; + view all Olivares, AL; Pons, MI; Mill, J; Matos, JN; Garcia-Canadilla, P; Cerrada, I; Guy, A; Hutchinson, JC; Simcock, IC; Arthurs, OJ; Cook, AC; Fuentes, VL; Camara, O; - view fewer (2021) Shape Analysis and Computational Fluid Simulations to Assess Feline Left Atrial Function and Thrombogenesis. In: Functional Imaging and Modeling of the Heart. FIMH 2021. (pp. pp. 619-628). Springer: Cham, Switzerland.

Olson, HE; Demarest, ST; Pestana-Knight, EM; Swanson, LC; Iqbal, S; Lal, D; Leonard, H; ... Benke, TA; + view all Olson, HE; Demarest, ST; Pestana-Knight, EM; Swanson, LC; Iqbal, S; Lal, D; Leonard, H; Cross, JH; Devinsky, O; Benke, TA; - view fewer (2019) Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. [Review]. Pediatric Neurology , 97 pp. 18-25. 10.1016/j.pediatrneurol.2019.02.015.

Omairi, S; Hau, K-L; Collin-Hooper, H; Montanaro, F; Goyenvalle, A; Garcia, L; Patel, K; (2017) Relationship between myosin heavy chain fibre type and restoration of dystrophin expression and key components of the dystrophin-associated glycoprotein complex by Tricyclo-DNA mediated exon skipping. Molecular Therapy - Nucleic Acids 10.1016/j.omtn.2017.10.014. (In press).

Omairi, S; Hau, K-L; Collins-Hooper, H; Scott, C; Vaiyapuri, S; Torelli, S; Montanaro, F; ... Patel, K; + view all Omairi, S; Hau, K-L; Collins-Hooper, H; Scott, C; Vaiyapuri, S; Torelli, S; Montanaro, F; Matsakas, A; Patel, K; - view fewer (2019) Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres. Scientific Reports , 9 , Article 2770. 10.1038/s41598-019-39532-4.

Opladen, T; Cortès-Saladelafont, E; Mastrangelo, M; Horvath, G; Pons, R; Lopez-Laso, E; Fernández-Ramos, JA; ... Garcia-Cazorla, À; + view all Opladen, T; Cortès-Saladelafont, E; Mastrangelo, M; Horvath, G; Pons, R; Lopez-Laso, E; Fernández-Ramos, JA; Honzik, T; Pearson, T; Friedman, J; Scholl-Bürgi, S; Wassenberg, T; Jung-Klawitter, S; Kuseyri, O; Jeltsch, K; Kurian, MA; Garcia-Cazorla, À; - view fewer (2016) The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. Molecular Genetics and Metabolism Reports , 9 pp. 61-66. 10.1016/j.ymgmr.2016.09.006.

Opladen, T; López-Laso, E; Cortès-Saladelafont, E; Pearson, TS; Sivri, HS; Yildiz, Y; Assmann, B; ... International Working Group on Neurotransmitter related Disorder, .; + view all Opladen, T; López-Laso, E; Cortès-Saladelafont, E; Pearson, TS; Sivri, HS; Yildiz, Y; Assmann, B; Kurian, MA; Leuzzi, V; Heales, S; Pope, S; Porta, F; García-Cazorla, A; Honzík, T; Pons, R; Regal, L; Goez, H; Artuch, R; Hoffmann, GF; Horvath, G; Thöny, B; Scholl-Bürgi, S; Burlina, A; Verbeek, MM; Mastrangelo, M; Friedman, J; Wassenberg, T; Jeltsch, K; Kulhánek, J; Kuseyri Hübschmann, O; International Working Group on Neurotransmitter related Disorder, .; - view fewer (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH₄) deficiencies. Orphanet Journal of Rare Diseases , 15 (1) , Article 126. 10.1186/s13023-020-01379-8.

Orth, M; Gregory, S; Scahill, RI; Mayer, ISM; Minkova, L; Kloeppel, S; Seunarine, KK; ... Tabrizi, SJ; + view all Orth, M; Gregory, S; Scahill, RI; Mayer, ISM; Minkova, L; Kloeppel, S; Seunarine, KK; Boyd, L; Borowsky, B; Reilmann, R; Landwehrmeyer, GB; Leavitt, BR; Roos, RAC; Durr, A; Rees, G; Rothwell, JC; Langbehn, D; Tabrizi, SJ; - view fewer (2016) Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease. Human Brain Mapping , 37 (12) pp. 4615-4628. 10.1002/hbm.23332.

Osborne, John P; Edwards, Stuart W; Alber, Fabienne Dietrich; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Likeman, Marcus; ... O'Callaghan, FinbarJ K; + view all Osborne, John P; Edwards, Stuart W; Alber, Fabienne Dietrich; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Likeman, Marcus; Lux, Andrew L; Mackay, Mark; Mallick, Andrew; Newton, Richard W; Nolan, Melinda; Pressler, Ronit; Rating, Dietz; Schmitt, Bernhard; Verity, Christopher M; O'Callaghan, FinbarJ K; - view fewer (2023) Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials. European Journal of Paediatric Neurology , 42 pp. 110-116. 10.1016/j.ejpn.2022.12.007.

Osborne, JP; Edwards, SW; Alber, FD; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; ... O'Callaghan, FJK; + view all Osborne, JP; Edwards, SW; Alber, FD; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; Lux, AL; Mackay, M; Mallick, A; Newton, RW; Nolan, M; Pressler, R; Rating, D; Schmitt, B; Verity, CM; O'Callaghan, FJK; - view fewer (2019) The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS). Epilepsia , 60 (9) pp. 1861-1869. 10.1111/epi.16305.

Oskoui, Maryam; Day, John W; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Saito, Kayoko; Vuillerot, Carole; ... SUNFISH Working Group; + view all Oskoui, Maryam; Day, John W; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Papp, Gergely; Gorni, Ksenija; Kletzl, Heidemarie; Martin, Carmen; McIver, Tammy; Scalco, Renata S; Staunton, Hannah; Yeung, Wai Yin; Fontoura, Paulo; Mercuri, Eugenio; SUNFISH Working Group; - view fewer (2023) Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology 10.1007/s00415-023-11560-1. (In press).

Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; ... Skorvanek, Matej; + view all Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A; Wiethoff, Sarah; Houlden, Henry; Havránková, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej; - view fewer (2021) A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia. Movement Disorders , 36 (8) , Article 28647. 10.1002/mds.28647.

Ottaviano, G; Lucchini, G; Breuer, J; Furtado-Silva, JM; Lazareva, A; Ciocarlie, O; Elfeky, R; ... Chiesa, R; + view all Ottaviano, G; Lucchini, G; Breuer, J; Furtado-Silva, JM; Lazareva, A; Ciocarlie, O; Elfeky, R; Rao, K; Amrolia, PJ; Veys, P; Chiesa, R; - view fewer (2020) Delaying haematopoietic stem cell transplantation in children with viral respiratory infections reduces transplant-related mortality. British Journal of Haematology , 188 (4) pp. 560-569. 10.1111/bjh.16216.

Owen, N; Zhou, HY; Malygin, AA; Sangha, J; Smith, LD; Muntoni, F; Eperon, IC; (2011) Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Research , 39 (16) 7194- 7208. 10.1093/nar/gkr152.

P

Padarti, Akhil; Quinn, Charles T; Kwiatkowski, Janet L; McNaull, Melissa; Kirkham, Fenella J; Plumb, Patricia; Hynan, Linda S; ... PFAST Investigators; + view all Padarti, Akhil; Quinn, Charles T; Kwiatkowski, Janet L; McNaull, Melissa; Kirkham, Fenella J; Plumb, Patricia; Hynan, Linda S; Dowling, Michael Morgan; PFAST Investigators; - view fewer (2025) Prevalence of Antiplatelet and Anticoagulation Therapy in Children with Sickle Cell Anemia and Stroke. Pediatric Stroke , 11 pp. 111-140. (In press).

Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; ... Houlden, H; + view all Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A; Giess, A; Tucci, A; Beetz, C; Sedghi, M; Ansari, B; Barresi, R; Basiri, K; Cortese, A; Elgar, G; Fernandez-Garcia, MA; Yip, J; Foley, AR; Gutowski, N; Jungbluth, H; Lassche, S; Lavin, T; Marcelis, C; Marks, P; Marini-Bettolo, C; Medne, L; Moslemi, A-R; Sarkozy, A; Reilly, MM; Muntoni, F; Millan, F; Muraresku, CC; Need, AC; Nemeth, AH; Neuhaus, SB; Norwood, F; O'Donnell, M; O'Driscoll, M; Rankin, J; Yum, SW; Zolkipli-Cunningham, Z; Brusius, I; Wunderlich, G; Genomics England Research Consortium; Karakaya, M; Wirth, B; Fakhro, KA; Tajsharghi, H; Bönnemann, CG; Taylor, JC; Houlden, H; - view fewer (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain 10.1093/brain/awaa420. (In press).

Pahs, G; Rankin, P; Helen Cross, J; Croft, L; Northam, GB; Liegeois, F; Greenway, S; ... Baldeweg, T; + view all Pahs, G; Rankin, P; Helen Cross, J; Croft, L; Northam, GB; Liegeois, F; Greenway, S; Harrison, S; Vargha-Khadem, F; Baldeweg, T; - view fewer (2013) Asymmetry of planum temporale constrains interhemispheric language plasticity in children with focal epilepsy. Brain , 136 (10) pp. 3163-3175. 10.1093/brain/awt225.

Palermo, TM; Alderfer, MA; Boerner, KE; Hilliard, ME; Hood, AM; Modi, AC; Wu, YP; (2021) Editorial: Diversity, Equity, and Inclusion: Reporting Race and Ethnicity in the Journal of Pediatric Psychology. Journal of Pediatric Psychology , 46 (7) pp. 731-733. 10.1093/jpepsy/jsab063.

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; ... Kalscheuer, Vera M; + view all Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M; Sands, Tristan T; Wilson, Golder N; Silvertooth, Erin J; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H; Ockeloen, Charlotte W; Pfundt, Rolph; Kroft, Sanne D; Field, Michael; Laranjeira, Francisco ER; Fortuna, Ana M; Soares, Ana R; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D; Bird, Lynne M; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M; Blazo, Maria; Bijlsma, Emilia K; Rosenfeld, Jill A; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S; Armstrong, Ruth; Kalscheuer, Vera M; - view fewer (2022) Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 10.1038/s41380-022-01852-9. (In press).

Palmer, AJR; Ayyar Gupta, V; Fernquest, S; Rombach, I; Dutton, SJ; Mansour, R; Wood, S; ... FAIT Study Group; + view all Palmer, AJR; Ayyar Gupta, V; Fernquest, S; Rombach, I; Dutton, SJ; Mansour, R; Wood, S; Khanduja, V; Pollard, TCB; McCaskie, AW; Barker, KL; Andrade, TJMD; Carr, AJ; Beard, DJ; Glyn-Jones, S; FAIT Study Group; - view fewer (2019) Arthroscopic hip surgery compared with physiotherapy and activity modification for the treatment of symptomatic femoroacetabular impingement: multicentre randomised controlled trial. BMJ , 364 , Article l185. 10.1136/bmj.l185.

Pane, M; Coratti, G; Brogna, C; Mazzone, ES; Mayhew, A; Fanelli, L; Messina, S; ... Mercuri, E; + view all Pane, M; Coratti, G; Brogna, C; Mazzone, ES; Mayhew, A; Fanelli, L; Messina, S; D'Amico, A; Catteruccia, M; Scutifero, M; Frosini, S; Lanzillotta, V; Colia, G; Cavallaro, F; Rolle, E; De Sanctis, R; Forcina, N; Petillo, R; Barp, A; Gardani, A; Pini, A; Monaco, G; D'Angelo, MG; Zanin, R; Vita, GL; Bruno, C; Mongini, T; Ricci, F; Pegoraro, E; Bello, L; Berardinelli, A; Battini, R; Sansone, V; Albamonte, E; Baranello, G; Bertini, E; Politano, L; Sormani, MP; Mercuri, E; - view fewer (2018) Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. PLoS One , 13 (6) , Article e0199223. 10.1371/journal.pone.0199223.

Papademetriou, M; Tachtsidis, I; Elliott, MJ; Hoskote, A; Elwell, CE; (2013) Wavelet cross-correlation to investigate regional variations in cerebral oxygenation in infants supported on extracorporeal membrane oxygenation. Adv Exp Med Biol , 765 203 - 209. 10.1007/978-1-4614-4989-8_28.

Papademetriou, MD; Tachtsidis, I; Banaji, M; Elliott, MJ; Hoskote, A; Elwell, CE; (2012) Optical topography to measure variations in regional cerebral oxygenation in an infant supported on veno-arterial extra-corporeal membrane oxygenation. In: Wolf, M and Bucher, HU and Rudin, M and Van Huffel, S and Wolf, U and Bruley, DF and Harrison, DK, (eds.) Oxygen Transport to Tissue XXXIII. (pp. 71 - 76). Springer Verlag: Berlin/ Heidelberg, Germany.

Papademetriou, MD; Tachtsidis, I; Elliot, MJ; Hoskote, A; Elwell, CE; (2012) Multichannel near infrared spectroscopy indicates regional variations in cerebral autoregulation in infants supported on extracorporeal membrane oxygenation. J Biomed Opt , 17 (6) , Article 067008. 10.1117/1.JBO.17.6.067008.

Papademetriou, MD; Tachtsidis, I; Leung, TS; Elliott, MJ; Hoskote, A; Elwell, CE; (2010) Cerebral and Peripheral Tissue Oxygenation in Children Supported on ECMO for Cardio-Respiratory Failure. In: Takahashi, E and Bruley, DF, (eds.) Oxygen Transport to Tissue XXXI. (pp. 447 - 453). Springer Verlag: Berlin/ Heidelberg, Germany.

Papageorgiou, A; Bright, P; Periche Tomas, E; Filippi, R; (2018) Evidence against a cognitive advantage in the older bilingual population. Quarterly Journal of Experimental Psychology , 72 (6) pp. 1354-1363. 10.1177/1747021818796475.

Papandreou, A; Soo, AKS; Spaull, R; Mankad, K; Kurian, MA; Sudhakar, S; (2022) Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration. American Journal of Neuroradiology , 43 (12) pp. 1810-1814. 10.3174/ajnr.A7693.

Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; ... Clinical cohort recruitment and characterization group, .; + view all Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; Mills, Kevin; Gissen, Paul; Heywood, Wendy E; Clinical cohort recruitment and characterization group, .; - view fewer (2022) Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.15334. (In press).

Papandreou, Apostolos; Luft, Christin; Barral, Serena; Kriston-Vizi, Janos; Kurian, Manju A; Ketteler, Robin; (2023) Automated High-Content Imaging in iPSC-derived Neuronal Progenitors. SLAS Discovery 10.1016/j.slasd.2022.12.002. (In press).

Papandreou, A; Danti, FR; Spaull, R; Leuzzi, V; Mctague, A; Kurian, MA; (2020) The expanding spectrum of movement disorders in genetic epilepsies. Developmental Medicine & Child Neurology , 62 (2) pp. 178-191. 10.1111/dmcn.14407.

Papandreou, A; McTague, A; Trump, N; Ambegaonkar, G; Ngoh, A; Meyer, E; Scott, RH; Papandreou, A; McTague, A; Trump, N; Ambegaonkar, G; Ngoh, A; Meyer, E; Scott, RH; Kurian, MA; - view fewer (2016) GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. Developmental Medicine and Child Neurology , 58 (4) pp. 416-420. 10.1111/dmcn.12976.

Papandreou, A; Rahman, S; Fratter, C; Ng, J; Meyer, E; Carr, LJ; Champion, M; ... Kurian, MA; + view all Papandreou, A; Rahman, S; Fratter, C; Ng, J; Meyer, E; Carr, LJ; Champion, M; Clarke, A; Gissen, P; Hemingway, C; Hussain, N; Jayawant, S; King, MD; Lynch, BJ; Mewasingh, L; Patel, J; Prabhakar, P; Neergheen, V; Pope, S; Heales, SJR; Poulton, J; Kurian, MA; - view fewer (2018) Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. Journal of Inherited Metabolic Disease , 41 (6) pp. 1275-1283. 10.1007/s10545-018-0227-7.

Papandreou, A; Schneider, RB; Augustine, EF; Ng, J; Mankad, K; Meyer, E; McTague, A; ... Kurian, MA; + view all Papandreou, A; Schneider, RB; Augustine, EF; Ng, J; Mankad, K; Meyer, E; McTague, A; Ngoh, A; Hemingway, C; Robinson, R; Varadkar, SM; Kinali, M; Salpietro, V; O'Driscoll, MC; Basheer, SN; Webster, RI; Mohammad, SS; Pula, S; McGowan, M; Trump, N; Jenkins, L; Elmslie, F; Scott, RH; Hurst, JA; Perez-Duenas, B; Paciorkowski, AR; Kurian, MA; - view fewer (2016) Delineation of the movement disorders associated with FOXG1 mutations. Neurology , 86 (19) pp. 1794-1800. 10.1212/WNL.0000000000002585.

Papandreou, Apostolos; (2020) Investigation of Disease Mechanisms and Screening for Treatments in Betapropeller Protein-Associated Neurodegeneration (BPAN). Doctoral thesis (Ph.D), UCL (University College London).

Paredes-Redondo, A; Harley, P; Maniati, E; Ryan, D; Louzada, S; Meng, J; Kowala, A; ... Lin, YY; + view all Paredes-Redondo, A; Harley, P; Maniati, E; Ryan, D; Louzada, S; Meng, J; Kowala, A; Fu, B; Yang, F; Liu, P; Marino, S; Pourquié, O; Muntoni, F; Wang, J; Lieberam, I; Lin, YY; - view fewer (2021) Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections. Science Advances , 7 (37) 10.1126/sciadv.abi8787.

Parker, C; Clayden, J; Cardoso, M; Rodionov, R; Duncan, J; Scott, C; Diehl, B; Parker, C; Clayden, J; Cardoso, M; Rodionov, R; Duncan, J; Scott, C; Diehl, B; Ourselin, S; - view fewer (2018) Structural and effective connectivity in focal epilepsy. NeuroImage: Clinical , 17 pp. 943-952. 10.1016/j.nicl.2017.12.020.

Parker, CS; (2017) Human brain networks: consensus, reproducibility, inter-modal comparison and epilepsy pathology. Doctoral thesis , UCL (University College London).

Parker, CS; Deligianni, F; Cardoso, MJ; Daga, P; Modat, M; Dayan, M; Clark, CA; ... Clayden, JD; + view all Parker, CS; Deligianni, F; Cardoso, MJ; Daga, P; Modat, M; Dayan, M; Clark, CA; Ourselin, S; Clayden, JD; - view fewer (2014) Consensus between pipelines in structural brain networks. PLoS One , 9 (10) , Article e111262. 10.1371/journal.pone.0111262.

Passarelli, C; Selvatici, R; Carrieri, A; Di Raimo, FR; Falzarano, MS; Fortunato, F; Rossi, R; ... Ferlini, A; + view all Passarelli, C; Selvatici, R; Carrieri, A; Di Raimo, FR; Falzarano, MS; Fortunato, F; Rossi, R; Straub, V; Bushby, K; Reza, M; Zharaieva, I; D'Amico, A; Bertini, E; Merlini, L; Sabatelli, P; Borgiani, P; Novelli, G; Messina, S; Pane, M; Mercuri, E; Claustres, M; Tuffery-Giraud, S; Aartsma-Rus, A; Spitali, P; T'Hoen, PAC; Lochmüller, H; Strandberg, K; Al-Khalili, C; Kotelnikova, E; Lebowitz, M; Schwartz, E; Muntoni, F; Scapoli, C; Ferlini, A; - view fewer (2020) Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Frontiers in Genetics , 11 , Article 605. 10.3389/fgene.2020.00605.

Pastore, Luigi Vincenzo; Sudhakar, Sniya Valsa; Mankad, Kshitij; De Vita, Enrico; Biswas, Asthik; Tisdall, Martin M; Chari, Aswin; ... D'Arco, Felice; + view all Pastore, Luigi Vincenzo; Sudhakar, Sniya Valsa; Mankad, Kshitij; De Vita, Enrico; Biswas, Asthik; Tisdall, Martin M; Chari, Aswin; Figini, Matteo; Tahir, M Zubair; Adler, Sophie; Moeller, Friederike; Cross, J Helen; Pujar, Suresh; Wagstyl, Konrad; Ripart, Mathilde; Löbel, Ulrike; Cirillo, Luigi; D'Arco, Felice; - view fewer (2024) Integrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study. Neuroradiology 10.1007/s00234-024-03488-8. (In press).

Pauling, Cato; Kanber, Baris; Arthurs, Owen J; Shelmerdine, Susan C; (2024) Commercially available artificial intelligence tools for fracture detection: the evidence. BJR|Open , 6 (1) , Article tzad005. 10.1093/bjro/tzad005.

Pavel, AM; Rennie, JM; De Vries, LS; Blennow, M; Foran, A; Shah, DK; Pressler, RM; ... Boylan, GB; + view all Pavel, AM; Rennie, JM; De Vries, LS; Blennow, M; Foran, A; Shah, DK; Pressler, RM; Kapellou, O; Dempsey, EM; Mathieson, SR; Pavlidis, E; Weeke, LC; Livingstone, V; Murray, DM; Marnane, WP; Boylan, GB; - view fewer (2021) Neonatal Seizure Management – Is the Timing of Treatment Critical? The Journal of Pediatrics 10.1016/j.jpeds.2021.09.058. (In press).

Pavel, Andreea M; O'Toole, John M; Proietti, Jacopo; Livingstone, Vicki; Mitra, Subhabrata; Marnane, William P; Finder, Mikael; ... ANSeR Consortium, .; + view all Pavel, Andreea M; O'Toole, John M; Proietti, Jacopo; Livingstone, Vicki; Mitra, Subhabrata; Marnane, William P; Finder, Mikael; Dempsey, Eugene M; Murray, Deirdre M; Boylan, Geraldine B; ANSeR Consortium, .; - view fewer (2023) Machine learning for the early prediction of infants with electrographic seizures in neonatal hypoxic-ischaemic encephalopathy. Epilepsia , 64 (2) pp. 456-468. 10.1111/epi.17468.

Pavel, AM; Rennie, JM; de Vries, LS; Blennow, M; Foran, A; Shah, DK; Pressler, RM; ... Boylan, GB; + view all Pavel, AM; Rennie, JM; de Vries, LS; Blennow, M; Foran, A; Shah, DK; Pressler, RM; Kapellou, O; Dempsey, EM; Mathieson, SR; Pavlidis, E; van Huffelen, AC; Livingstone, V; Toet, MC; Weeke, LC; Finder, M; Mitra, S; Murray, DM; Marnane, WP; Boylan, GB; - view fewer (2020) A machine-learning algorithm for neonatal seizure recognition: a multicentre, randomised, controlled trial. The Lancet Child & Adolescent Health , 4 (10) pp. 740-749. 10.1016/S2352-4642(20)30239-X.

Peall, KJ; Lorentzos, MS; Heyman, I; Tijssen, MAJ; Owen, MJ; Dale, RC; Kurian, MA; (2017) A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders. Neuroscience and Biobehavioral Reviews , 80 pp. 23-35. 10.1016/j.neubiorev.2017.05.014.

Peall, KJ; Ng, J; Dy, ME; Sharma, N; Pope, S; Heales, S; Friedman, JR; Peall, KJ; Ng, J; Dy, ME; Sharma, N; Pope, S; Heales, S; Friedman, JR; Kurian, MA; - view fewer (2017) Low CSF 5-HIAA in Myoclonus Dystonia. Movement Disorder , 32 (11) pp. 1647-1649. 10.1002/mds.27117.

Pearson, TS; Gilbert, L; Opladen, T; Garcia-Cazorla, A; Mastrangelo, M; Leuzzi, V; Tay, SKH; ... Flint, L; + view all Pearson, TS; Gilbert, L; Opladen, T; Garcia-Cazorla, A; Mastrangelo, M; Leuzzi, V; Tay, SKH; Sykut-Cegielska, J; Pons, R; Mercimek-Andrews, S; Kato, M; Lücke, T; Oppebøen, M; Kurian, MA; Steel, D; Manti, F; Meeks, KD; Jeltsch, K; Flint, L; - view fewer (2020) AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. Journal of Inherited Metabolic Disease 10.1002/jimd.12247. (In press).

Peccate, C; Mollard, A; Le Hir, M; Julien, L; McClorey, G; Jarmin, S; Le Heron, A; ... Lorain, S; + view all Peccate, C; Mollard, A; Le Hir, M; Julien, L; McClorey, G; Jarmin, S; Le Heron, A; Dickson, G; Benkhelifa-Ziyyat, S; Piétri-Rouxel, F; Wood, MJ; Voit, T; Lorain, S; - view fewer (2016) Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles. Human Molecular Genetics , 25 (16) pp. 3555-3563. 10.1093/hmg/ddw201.

Pecheva, D; Kelly, C; Kimpton, J; Bonthrone, A; Batalle, D; Zhang, H; Counsell, SJ; (2018) Recent advances in diffusion neuroimaging: applications in the developing preterm brain. F1000Research , 7 , Article 1326. 10.12688/f1000research.15073.1.

Peckham, Hannah; Webb, Kate; Rosser, Elizabeth C; Butler, Gary; Ciurtin, Coziana; (2022) Gender-Diverse Inclusion in Immunological Research: Benefits to Science and Health. Frontiers in Medicine , 9 , Article 909789. 10.3389/fmed.2022.909789.

Pellegrin, S; Baldeweg, T; Pujar, S; D'Arco, F; Cantalupo, G; Varadkar, S; Cross, JH; (2021) Immunomodulation With Azathioprine Therapy in Rasmussen Syndrome: A Multimodal Evaluation. Neurology , 96 (2) e267-e279. 10.1212/WNL.0000000000011004.

Pellegrin, S; Munoz, FM; Padula, M; Heath, PT; Meller, L; Top, K; Wilmshurst, J; ... Pressler, RM; + view all Pellegrin, S; Munoz, FM; Padula, M; Heath, PT; Meller, L; Top, K; Wilmshurst, J; Wiznitzer, M; Das, MK; Hahn, CD; Kucuku, M; Oleske, J; Vinayan, KP; Yozawitz, E; Aneja, S; Bhat, N; Boylan, G; Sesay, S; Shrestha, A; Soul, JS; Tagbo, B; Joshi, J; Soe, A; Maltezou, HC; Gidudu, J; Kochhar, S; Pressler, RM; - view fewer (2019) Neonatal seizures: Case definition & guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine , 37 (52) pp. 7596-7609. 10.1016/j.vaccine.2019.05.031.

Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; ... Beniczky, S; + view all Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; Mayor, LC; Lauronen, L; Beniczky, S; - view fewer (2023) Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Epilepsia , 64 (3) pp. 602-618. 10.1111/epi.17448.

Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; ... Beniczky, S; + view all Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; Mayor, LC; Lauronen, L; Beniczky, S; - view fewer (2023) Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Clinical Neurophysiology , 147 pp. 108-120. 10.1016/j.clinph.2023.01.002.

Penner, J; Abdel-Mannan, O; Grant, K; Maillard, S; Kucera, F; Hassell, J; Eyre, M; ... GOSH PIMS-TS MDT Group; + view all Penner, J; Abdel-Mannan, O; Grant, K; Maillard, S; Kucera, F; Hassell, J; Eyre, M; Berger, Z; Hacohen, Y; Moshal, K; GOSH PIMS-TS MDT Group; - view fewer (2021) 6-month multidisciplinary follow-up and outcomes of patients with paediatric inflammatory multisystem syndrome (PIMS-TS) at a UK tertiary paediatric hospital: a retrospective cohort study. The Lancet Child & Adolescent Health , 5 (7) pp. 473-482. 10.1016/S2352-4642(21)00138-3.

Pera, MC; Coratti, G; Bovis, F; Pane, M; Pasternak, A; Montes, J; Sansone, VA; ... iSMAC group, ,; + view all Pera, MC; Coratti, G; Bovis, F; Pane, M; Pasternak, A; Montes, J; Sansone, VA; Dunaway Young, S; Duong, T; Messina, S; Mizzoni, I; D'Amico, A; Civitello, M; Glanzman, AM; Bruno, C; Salmin, F; Morando, S; De Sanctis, R; Sframeli, M; Antonaci, L; Frongia, AL; Rohwer, A; Scoto, M; De Vivo, DC; Darras, BT; Day, J; Martens, W; Patanella, KA; Bertini, E; Muntoni, F; Finkel, R; Mercuri, E; iSMAC group, ,; - view fewer (2021) Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. Annals of Clinical and Translational Neurology , 8 (8) pp. 1622-1634. 10.1002/acn3.51411.

Pera, MC; Coratti, G; Forcina, N; Mazzone, ES; Scoto, M; Montes, J; Pasternak, A; ... Mercuri, E; + view all Pera, MC; Coratti, G; Forcina, N; Mazzone, ES; Scoto, M; Montes, J; Pasternak, A; Mayhew, A; Messina, S; Sframeli, M; Main, M; Lofra, RM; Duong, T; Ramsey, D; Dunaway, S; Salazar, R; Fanelli, L; Civitello, M; de Sanctis, R; Antonaci, L; Lapenta, L; Lucibello, S; Pane, M; Day, J; Darras, BT; De Vivo, DC; Muntoni, F; Finkel, R; Mercuri, E; - view fewer (2017) Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurology , 17 (1) , Article 39. 10.1186/s12883-017-0790-9.

Pera, MC; Coratti, G; Mazzone, ES; Montes, J; Scoto, M; De Sanctis, R; Main, M; ... iSMAC Consortium Group, .; + view all Pera, MC; Coratti, G; Mazzone, ES; Montes, J; Scoto, M; De Sanctis, R; Main, M; Mayhew, A; Muni Lofra, R; Dunaway Young, S; Glanzman, AM; Duong, T; Pasternak, A; Ramsey, D; Darras, B; Day, JW; Finkel, RS; De Vivo, DC; Sormani, MP; Bovis, F; Straub, V; Muntoni, F; Pane, M; Mercuri, E; iSMAC Consortium Group, .; - view fewer (2019) Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle Nerve , 59 (4) pp. 426-430. 10.1002/mus.26419.

Pereira, MR; Barbosa, F; de Haan, M; Ferreira-Santos, F; (2019) Understanding the Development of Face and Emotion Processing Under a Predictive Processing Framework. Developmental Psychology , 55 (9) pp. 1868-1881. 10.1037/dev0000706.

Perez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D; Macaya, Alfons; Danti, Federica R; Barwick, Katy; ... Kurian, Manju A; + view all Perez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D; Macaya, Alfons; Danti, Federica R; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Paivi; Sheridan, Eammon; Guerrini, Renzo; Cobben, Jan; Yilmaz, Sanem; De Grandis, Elisa; Dale, Russell C; Pons, Roser; Peall, Kathryn J; Leuzzi, Vincenzo; Kurian, Manju A; - view fewer (2022) The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders. Movement Disorders , 37 (11) pp. 2197-2209. 10.1002/mds.29182.

Perry, Luke; Stimpson, Georgia; Singh, Leeha; Morrow, Jasper M; Shah, Sachit; Baranello, Giovanni; Muntoni, Francesco; Perry, Luke; Stimpson, Georgia; Singh, Leeha; Morrow, Jasper M; Shah, Sachit; Baranello, Giovanni; Muntoni, Francesco; Sarkozy, Anna; - view fewer (2023) Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Ann Clin Transl Neurol 10.1002/acn3.51816.

Perry, LD; Hogg, SL; Bowdin, S; Ambegaonkar, G; Parker, AP; (2021) Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics. Archives of Disease in Childhood - Education and Practice 10.1136/archdischild-2020-320606. (In press).

Perry, MM; Muntoni, F; (2016) Noncoding RNAs and Duchenne muscular dystrophy. Epigenomics , 8 (11) pp. 1527-1537. 10.2217/epi-2016-0088.

Piccus, R; Brayson, D; (2020) The nuclear envelope: LINCing tissue mechanics to genome regulation in cardiac and skeletal muscle. Biology Letters , 16 (7) , Article 20200302. 10.1098/rsbl.2020.0302.

Pigdon, L; Willmott, C; Reilly, S; Conti-Ramsden, G; Liegeois, F; Connelly, A; Morgan, AT; (2020) The neural basis of nonword repetition in children with developmental speech or language disorder: An fMRI study. Neuropsychologia , 138 , Article 107312. 10.1016/j.neuropsychologia.2019.107312.

Pimpel, Birgit; (2021) Advanced Invasive Neurophysiological Methods to Aid Decision Making in Paediatric Epilepsy Surgery. Doctoral thesis (Ph.D), UCL (University College London).

Pinho-Gomes, Ana-Catarina; Sen, Arjune; Cross, J Helen; Owen, Lesley; (2022) Inequalities in specialist care for people with epilepsy in the UK. Lancet Neurology , 21 (6) pp. 504-505. 10.1016/S1474-4422(22)00126-0.

Pini, Veronica; Mariot, Virginie; Dumonceaux, Julie; Counsell, John; O'Neill, Helen C; Farmer, Sarah; Conti, Francesco; Pini, Veronica; Mariot, Virginie; Dumonceaux, Julie; Counsell, John; O'Neill, Helen C; Farmer, Sarah; Conti, Francesco; Muntoni, Francesco; - view fewer (2022) Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications. Scientific Reports , 12 (1) , Article 3756. 10.1038/s41598-022-07671-w.

Pini, Veronica; (2019) Development of a CRISPR-based gene therapy approach to correct duplications causing Duchenne Muscular Dystrophy. Doctoral thesis (Ph.D), UCL (University College London).

Piper, RJ; Tangwiriyasakul, C; Shamshiri, EA; Centeno, M; He, X; Richardson, MP; Tisdall, MM; Piper, RJ; Tangwiriyasakul, C; Shamshiri, EA; Centeno, M; He, X; Richardson, MP; Tisdall, MM; Carmichael, DW; - view fewer (2021) Functional Connectivity of the Anterior Nucleus of the Thalamus in Pediatric Focal Epilepsy. Frontiers in Neurology , 12 10.3389/fneur.2021.670881.

Piper, Rory J; Dasgupta, Debayan; Eriksson, Maria H; Ripart, Mathilde; Moosa, Almira; Chari, Aswin; Seunarine, Kiran K; ... Baldeweg, Torsten; + view all Piper, Rory J; Dasgupta, Debayan; Eriksson, Maria H; Ripart, Mathilde; Moosa, Almira; Chari, Aswin; Seunarine, Kiran K; Clark, Chris A; Duncan, John S; Carmichael, David W; Tisdall, Martin M; Baldeweg, Torsten; - view fewer (2023) Extent of piriform cortex resection in children with temporal lobe epilepsy. Annals of Clinical and Translational Neurology 10.1002/acn3.51852. (In press).

Piper, Rory J; Fleming, John; Valentín, Antonio; Kaliakatsos, Marios; Tisdall, Martin M; (2022) Neurostimulation devices for children: lessons learned. The Lancet Child and Adolescent Health , 6 (6) pp. 359-361. 10.1016/S2352-4642(22)00123-7.

Piper, Rory J; Richardson, R Mark; Worrell, Gregory; Carmichael, David W; Baldeweg, Torsten; Litt, Brian; Denison, Timothy; Piper, Rory J; Richardson, R Mark; Worrell, Gregory; Carmichael, David W; Baldeweg, Torsten; Litt, Brian; Denison, Timothy; Tisdall, Martin M; - view fewer (2022) Towards network-guided neuromodulation for epilepsy. Brain , Article awac234. 10.1093/brain/awac234. (In press).

Piper, Rory J.; (2024) Network-guided surgery for children with epilepsy. Doctoral thesis (Ph.D), UCL (University College London).

Piper, RJ; Afshari, FT; Soon, WC; Kolias, AG; Dyson, EW; Watkins, L; Laing, R; ... Jayamohan, J; + view all Piper, RJ; Afshari, FT; Soon, WC; Kolias, AG; Dyson, EW; Watkins, L; Laing, R; Lo, WB; Jayamohan, J; - view fewer (2021) UK Chiari 1 Study: protocol for a prospective, observational, multicentre study. BMJ Open , 11 (4) , Article e043712. 10.1136/bmjopen-2020-043712.

Pipis, Menelaos; Won, Seongsik; Poh, Roy; Efthymiou, Stephanie; Polke, James M; Skorupinska, Mariola; Blake, Julian; ... Reilly, Mary M; + view all Pipis, Menelaos; Won, Seongsik; Poh, Roy; Efthymiou, Stephanie; Polke, James M; Skorupinska, Mariola; Blake, Julian; Rossor, Alexander M; Moran, John J; Munot, Pinki; Muntoni, Francesco; Laura, Matilde; Svaren, John; Reilly, Mary M; - view fewer (2023) Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Brain , Article awad203. 10.1093/brain/awad203. (In press).

Pipis, M; Feely, SME; Polke, JM; Skorupinska, M; Perez, L; Shy, RR; Laura, M; ... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all Pipis, M; Feely, SME; Polke, JM; Skorupinska, M; Perez, L; Shy, RR; Laura, M; Morrow, JM; Moroni, I; Pisciotta, C; Taroni, F; Vujovic, D; Lloyd, TE; Acsadi, G; Yum, SW; Lewis, RA; Finkel, RS; Herrmann, DN; Day, JW; Li, J; Saporta, M; Sadjadi, R; Walk, D; Burns, J; Muntoni, F; Ramchandren, S; Horvath, R; Johnson, NE; Züchner, S; Pareyson, D; Scherer, SS; Rossor, AM; Shy, ME; Reilly, MM; Inherited Neuropathies Consortium - Rare Disease Clinical Resear; - view fewer (2021) Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain 10.1093/brain/awaa323. (In press).

Piras, G; Montiel-Equihua, C; Chan, Y-KA; Wantuch, S; Stuckey, D; Burke, D; Prunty, H; ... Gaspar, HB; + view all Piras, G; Montiel-Equihua, C; Chan, Y-KA; Wantuch, S; Stuckey, D; Burke, D; Prunty, H; Phadke, R; Chambers, D; Partida-Gaytan, A; Leon-Rico, D; Panchal, N; Whitmore, K; Calero, M; Benedetti, S; Santilli, G; Thrasher, AJ; Gaspar, HB; - view fewer (2020) Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease. Molecular Therapy - Methods and Clinical Development , 18 pp. 558-570. 10.1016/j.omtm.2020.07.001.

Pitkänen, A; Henshall, DC; Cross, JH; Guerrini, R; Jozwiak, S; Kokaia, M; Simonato, M; ... Mifsud, J; + view all Pitkänen, A; Henshall, DC; Cross, JH; Guerrini, R; Jozwiak, S; Kokaia, M; Simonato, M; Sisodiya, S; Mifsud, J; - view fewer (2019) Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy. Epilepsia , 60 (7) pp. 1281-1292. 10.1111/epi.16091.

Pitt, MC; (1989) An investigation into non-compressive myelopathy. Masters thesis , Cambridge University.

Pitts, Georgia Eloise Rollo; (2017) Neuropathology and cognitive dysfunction after early hypoglycaemia. Doctoral thesis (Ph.D), UCL (University College London).

Pizzamiglio, C; Lahiri, N; Nirmalananthan, N; Sood, B; Somalanka, S; Ostrowski, P; Phadke, R; ... Quinlivan, R; + view all Pizzamiglio, C; Lahiri, N; Nirmalananthan, N; Sood, B; Somalanka, S; Ostrowski, P; Phadke, R; O'Donovan, DG; Muntoni, F; Quinlivan, R; - view fewer (2020) First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscular Disorders , 30 (7) pp. 566-571. 10.1016/j.nmd.2020.05.004.

Pons, Maria Isabel; Olivares, Andy L; Mill, Jordi; Matos, Jose Novo; Garcia-Canadilla, Patricia; Cerrada, Inma; Guy, Anna; ... Camara, Oscar; + view all Pons, Maria Isabel; Olivares, Andy L; Mill, Jordi; Matos, Jose Novo; Garcia-Canadilla, Patricia; Cerrada, Inma; Guy, Anna; Morales Ferez, Xabier; Hutchinson, J Ciaran; Simcock, Ian C; Arthurs, Owen J; Cook, Andrew C; Fuentes, Virginia Luis; Camara, Oscar; - view fewer (2025) Cardiomyopathy and thrombogenesis in cats through left atrial morphological and fluid dynamics analysis. Scientific Reports , 15 , Article 12263. 10.1038/s41598-025-96245-7.

Pons, R; Pearson, TS; Perez-Dueñas, B; Garcia-Cazorla, A; Kurian, MA; Dalivigka, Z; Zouvelou, V; ... Rodriguez-Blazquez, C; + view all Pons, R; Pearson, TS; Perez-Dueñas, B; Garcia-Cazorla, A; Kurian, MA; Dalivigka, Z; Zouvelou, V; Outsika, C; Kokkinou, E; Sigatullina-Bondarenko, M; Darling, A; O'Callaghan, MDM; Spaull, R; Steel, DBD; Salamou, E; Forjaz, MJ; Rodriguez-Blazquez, C; - view fewer (2025) Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children. Movement Disorders 10.1002/mds.30219. (In press).

Powell, E; Prados, F; Chard, D; Toosy, A; Clayden, JD; Wheeler-Kingshott, CGAM; (2019) Edge Weights and Network Properties in Multiple Sclerosis. In: Frangi, Alejandro and Alberola-Lopez, Carlos, (eds.) Proceedings of the 21st International Conference on Medical Image Computing and Computer-Assisted Intervention (MICCAI 2018). (pp. pp. 281-291). Springer: Cham, Switzerland.

Powell, E; Prados Carrasco, F; Brownlee, W; Kanber, B; Collorone, S; Ourselin, S; Ciccarelli, O; ... Wheeler-Kingshott, CAM; + view all Powell, E; Prados Carrasco, F; Brownlee, W; Kanber, B; Collorone, S; Ourselin, S; Ciccarelli, O; Toosy, A; Clayden, JD; Wheeler-Kingshott, CAM; - view fewer (2018) A comparison of subnetwork classification methods. Presented at: ISMRM 2018, Paris, France.

Pozzilli, Valeria; Thambiliyagodage, Manori Prasadani; Mankad, Kshitij; Worth, Austen; Brogan, Paul; Ghorashian, Sara; Bamford, Alasdair; ... Hacohen, Yael; + view all Pozzilli, Valeria; Thambiliyagodage, Manori Prasadani; Mankad, Kshitij; Worth, Austen; Brogan, Paul; Ghorashian, Sara; Bamford, Alasdair; Hemingway, Cheryl; Kaliakatsos, Marios; Gilmour, Kimberly; Hacohen, Yael; - view fewer (2025) CSF IL-6 in children with neuroinflammatory conditions. European Journal of Paediatric Neurology , 58 pp. 42-49. 10.1016/j.ejpn.2025.07.013.

Prager, C; Cross, JH; (2017) Management of Dravet syndrome and emerging therapy options. Expert Opinion on Orphan Drugs , 5 (3) pp. 219-227. 10.1080/21678707.2017.1281124.

Pratt, R; Hutchinson, JC; Melbourne, A; Zuluaga, MA; Virasami, A; Vercauteren, T; Ourselin, S; ... David, AL; + view all Pratt, R; Hutchinson, JC; Melbourne, A; Zuluaga, MA; Virasami, A; Vercauteren, T; Ourselin, S; Sebire, NJ; Arthurs, OJ; David, AL; - view fewer (2017) Imaging the human placental microcirculation with micro-focus computed tomography: Optimisation of tissue preparation and image acquisition. Placenta , 60 pp. 36-39. 10.1016/j.placenta.2017.09.013.

Prentice, Freya; Chehabeddine, Lara; Eriksson, Maria Helena; Murphy, Jennifer; Sepeta, Leigh N; Gaillard, William D; Berl, Madison M; ... Baldeweg, Torsten; + view all Prentice, Freya; Chehabeddine, Lara; Eriksson, Maria Helena; Murphy, Jennifer; Sepeta, Leigh N; Gaillard, William D; Berl, Madison M; Liégeois, Frédérique; Baldeweg, Torsten; - view fewer (2025) Predictors of atypical language lateralization in focal epilepsy: A mega-analysis of fMRI evidence. Epilepsia 10.1111/epi.18422. (In press).

Prentice, Freya; Chehabeddine, Lara; Eriksson, Maria Helena; Murphy, Jennifer; Sepeta, Leigh N; Gaillard, William D; Berl, Madison M; ... Baldeweg, Torsten; + view all Prentice, Freya; Chehabeddine, Lara; Eriksson, Maria Helena; Murphy, Jennifer; Sepeta, Leigh N; Gaillard, William D; Berl, Madison M; Liégeois, Frédérique; Baldeweg, Torsten; - view fewer (2025) Is an earlier onset of focal epilepsy associated with atypical language lateralization? A systematic review, meta-analysis and new data. Neuroscience & Biobehavioral Reviews , 172 , Article 106110. 10.1016/j.neubiorev.2025.106110.

Pressler, RM; Binnie, CD; Coleshill, SG; Chorley, GA; Robinson, RO; (2006) Effect of lamotrigine on cognition in children with epilepsy. Neurology , 66 (10) pp. 1495-1499. 10.1212/01.wnl.0000216273.94142.84.

Pressler, RM; Boylan, GB; Morton, M; Binnie, CD; Rennie, JM; (2001) Early serial EEG in hypoxic ischaemic encephalopathy. Clinical Neurophysiology , 112 (1) pp. 31-37. 10.1016/S1388-2457(00)00517-4.

Pressler, RM; Cilio, MR; Mizrahi, EM; Moshé, SL; Nunes, ML; Plouin, P; Vanhatalo, S; ... Zuberi, SM; + view all Pressler, RM; Cilio, MR; Mizrahi, EM; Moshé, SL; Nunes, ML; Plouin, P; Vanhatalo, S; Yozawitz, E; De Vries, LS; Puthenveettil Vinayan, K; Triki, CC; Wilmshurst, JM; Yamatomo, H; Zuberi, SM; - view fewer (2021) The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia , 62 (3) pp. 615-628. 10.1111/epi.16815.

Pressler, Ronit; Auvin, Stéphane; (2013) Comparison of brain maturation among species: an example in translational research suggesting the possible use of bumetanide in newborn. Frontiers in Neurology , 4 , Article 36. 10.3389/fneur.2013.00036.

Pressler, Ronit M; Abend, Nicholas S; Auvin, Stéphan; Boylan, Geraldine; Brigo, Francesco; Cilio, Maria Roberta; De Vries, Linda S; ... Hartmann, Hans; + view all Pressler, Ronit M; Abend, Nicholas S; Auvin, Stéphan; Boylan, Geraldine; Brigo, Francesco; Cilio, Maria Roberta; De Vries, Linda S; Elia, Maurizio; Espeche, Alberto; Hahn, Cecil D; Inder, Terrie; Jette, Nathalie; Kakooza-Mwesige, Angelina; Mader, Silke; Mizrahi, Eli M; Moshé, Solomon L; Nagarajan, Lakshmi; Noyman, Iris; Nunes, Magda L; Samia, Pauline; Shany, Eilon; Shellhaas, Renée A; Subota, Ann; Triki, Chahnez Charfi; Tsuchida, Tammy; Vinayan, Kollencheri Puthenveettil; Wilmshurst, Jo M; Yozawitz, Elissa G; Hartmann, Hans; - view fewer (2023) Treatment of seizures in the neonate: Guidelines and consensus-based recommendations—Special report from the ILAE Task Force on Neonatal Seizures. Epilepsia pp. 1-21. 10.1111/epi.17745. (In press).

Pressler, Ronit M; Boylan, Geraldine B; (2022) Translational neonatal seizure research - a reality check. Epilepsia , 63 (7) pp. 1874-1879. 10.1111/epi.17276.

Pressler, Ronit M; Boylan, Geraldine B; Marlow, Neil; de Vries, Linda S; Blennow, Mats; CHiron, Catherine; Cross, J Helen; ... NEMO consortium, .; + view all Pressler, Ronit M; Boylan, Geraldine B; Marlow, Neil; de Vries, Linda S; Blennow, Mats; CHiron, Catherine; Cross, J Helen; Hallberg, Boubou; Hellström-Westas, Lena; Jullien, Vincent; Mangum, Barry; Murphy, Brendan; Murray, Deirdre; Pons, Gerard; Rennie, Janet; Toet, Mona C; Zohar, Sarah; NEMO consortium, .; - view fewer (2015) Bumetanide for neonatal seizures — back form the cotside. Nature Reviews Neurology , 11 , Article 724. 10.1038/nrneurol.2015.116.

Pressler, Ronit M; Robinson, Richard O; Wilson, Goigia A; Binnie, Colin D; (2005) Treatment of interictal epileptiform discharges can improve behavior in children with behavioral problems and epilepsy. The Journal of Pediatrics , 146 (1) pp. 112-117. 10.1016/j.jpeds.2004.08.084.

Pressler, RM; (2019) Neugeborenenanfälle. Zeitschrift fur Epileptologie , 32 (2) pp. 98-106. 10.1007/s10309-018-0244-4.

Pressler, RM; Lagae, L; (2020) Why we urgently need improved seizure and epilepsy therapies for children and neonates. Neuropharmacology , 170 , Article 107854. 10.1016/j.neuropharm.2019.107854.

Pressler, RM; Seri, S; Kane, N; Martland, T; Goyal, S; Iyer, A; Warren, E; ... Boyd, SG; + view all Pressler, RM; Seri, S; Kane, N; Martland, T; Goyal, S; Iyer, A; Warren, E; Notghi, L; Bill, P; Thornton, R; Appleton, R; Doyle, S; Rushton, S; Worley, A; Boyd, SG; - view fewer (2017) Consensus-based guidelines for Video EEG monitoring in the pre-surgical evaluation of children with epilepsy in the UK. Seizure , 50 pp. 6-11. 10.1016/j.seizure.2017.05.008.

Previtali, SC; Gidaro, T; Díaz-Manera, J; Zambon, A; Carnesecchi, S; Roux-Lombard, P; Spitali, P; ... Muntoni, F; + view all Previtali, SC; Gidaro, T; Díaz-Manera, J; Zambon, A; Carnesecchi, S; Roux-Lombard, P; Spitali, P; Signorelli, M; Szigyarto, CA-K; Johansson, C; Gray, J; Labolle, D; Thomé, FP; Pitchforth, J; Domingos, J; Muntoni, F; - view fewer (2020) Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy. Pharmacological Research , 159 , Article 104999. 10.1016/j.phrs.2020.104999.

Price, SJ; Allinson, K; Liu, H; Boonzaier, NR; Yan, J-L; Lupson, VC; Larkin, TJ; (2017) Less Invasive Phenotype Found in Isocitrate Dehydrogenase-mutated Glioblastomas than in Isocitrate Dehydrogenase Wild-Type Glioblastomas: A Diffusion-Tensor Imaging Study. Radiology , 283 (1) pp. 215-221. 10.1148/radiol.2016152679.

Pringsheim, Tamara; Batla, Amit; Shalash, Ali; Sahu, Jitendra Kumar; Cosentino, Carlos; Ebrahimi‐Fakhari, Darius; Friedman, Jennifer; ... Roze, Emmanuel; + view all Pringsheim, Tamara; Batla, Amit; Shalash, Ali; Sahu, Jitendra Kumar; Cosentino, Carlos; Ebrahimi‐Fakhari, Darius; Friedman, Jennifer; Lin, JP; Mink, Jonathan; Munchau, Alexander; Munoz, Daniela; Nardocci, Nardo; Perez‐Dueñas, Belen; Sardar, Zomer; Triki, Chahnez; Ben‐Pazi, Hilla; Silveira‐Moriyama, Laura; Troncoso‐Schifferli, Monica; Hoshino, Kyoko; Dale, Russell C; Fung, Victor SC; Kurian, Manju A; Roze, Emmanuel; - view fewer (2023) Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Movement Disorders Clinical Practice 10.1002/mdc3.13728. (In press).

Prins, BP; Abbasi, A; Wong, A; Vaez, A; Nolte, I; Franceschini, N; Stuart, PE; ... Alizadeh, BZ; + view all Prins, BP; Abbasi, A; Wong, A; Vaez, A; Nolte, I; Franceschini, N; Stuart, PE; Guterriez Achury, J; Mistry, V; Bradfield, JP; Valdes, AM; Bras, J; Shatunov, A; PAGE Consortium, .; International Stroke Genetics Consortium, .; Systemic Sclerosis Consortium, .; Treat OA Consortium, .; DIAGRAM Consortium, .; CARDIoGRAMplusC4D Consortium, .; ALS consortium, .; International Parkinson’s Disease Genomics Consortium, .; Autism Spectrum Disorder Group, Psychiatric Genomics Consortium, .; CKDGen consortium, .; GERAD1 Consortium, .; International Consortium for Blood Pressure, .; Schizophrenia Working Group, Psychiatric Genomics Consortium, .; Inflammation Working Group of the CHARGE Consortium, .; Lu, C; Han, B; Raychaudhuri, S; Bevan, S; Mayes, MD; Tsoi, LC; Evangelou, E; Nair, RP; Grant, SF; Polychronakos, C; Radstake, TR; van Heel, DA; Dunstan, ML; Wood, NW; Al-Chalabi, A; Dehghan, A; Hakonarson, H; Markus, HS; Elder, JT; Knight, J; Arking, DE; Spector, TD; Koeleman, BP; van Duijn, CM; Martin, J; Morris, AP; Weersma, RK; Wijmenga, C; Munroe, PB; Perry, JR; Pouget, JG; Jamshidi, Y; Snieder, H; Alizadeh, BZ; - view fewer (2016) Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. PLoS Medicine , 13 (6) , Article e1001976. 10.1371/journal.pmed.1001976.

Prins, BP; Mead, TJ; Brody, JA; Sveinbjornsson, G; Ntalla, I; Bihlmeyer, NA; van den Berg, M; ... Jamshidi, Y; + view all Prins, BP; Mead, TJ; Brody, JA; Sveinbjornsson, G; Ntalla, I; Bihlmeyer, NA; van den Berg, M; Bork-Jensen, J; Cappellani, S; Van Duijvenboden, S; Klena, NT; Gabriel, GC; Liu, X; Gulec, C; Grarup, N; Haessler, J; Hall, LM; Iorio, A; Isaacs, A; Li-Gao, R; Lin, H; Liu, C-T; Lyytikainen, L-P; Marten, J; Mei, H; Mueller-Nurasyid, M; Orini, M; Padmanabhan, S; Radmanesh, F; Ramirez, J; Robino, A; Schwartz, M; van Setten, J; Smith, AV; Verweij, N; Warren, HR; Weiss, S; Alonso, A; Arnar, DO; Bots, ML; de Boer, RA; Dominiczak, AF; Eijgelsheim, M; Ellinor, PT; Guo, X; Felix, SB; Harris, TB; Hayward, C; Heckbert, SR; Huang, PL; Jukema, JW; Kahonen, M; Kors, JA; Lambiase, PD; Launer, LJ; Li, M; Linneberg, A; Nelson, CP; Pedersen, O; Perez, M; Peters, A; Polasek, O; Psaty, BM; Raitakari, OT; Rice, KM; Rotter, JI; Sinner, MF; Soliman, EZ; Spector, TD; Strauch, K; Thorsteinsdottir, U; Tinker, A; Trompet, S; Uitterlinden, A; Vaartjes, I; van der Meer, P; Voelker, U; Voelzke, H; Waldenberger, M; Wilson, JG; Xie, Z; Asselbergs, FW; Doerr, M; van Duijn, CM; Gasparini, P; Gudbjartsson, DF; Gudnason, V; Hansen, T; Kaeaeb, S; Kanters, JK; Kooperberg, C; Lehtimaki, T; Lin, HJ; Lubitz, SA; Mook-Kanamori, DO; Conti, FJ; Newton-Cheh, CH; Rosand, J; Rudan, I; Samani, NJ; Sinagra, G; Smith, BH; Holm, H; Stricker, BH; Ulivi, S; Sotoodehnia, N; Apte, SS; van der Harst, P; Stefansson, K; Munroe, PB; Arking, DE; Lo, CW; Jamshidi, Y; - view fewer (2018) Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biology , 19 , Article 87. 10.1186/s13059-018-1457-6.

Privitera, L; Hales, PW; Musleh, L; Morris, E; Sizer, N; Barone, G; Humphries, P; ... Giuliani, S; + view all Privitera, L; Hales, PW; Musleh, L; Morris, E; Sizer, N; Barone, G; Humphries, P; Cross, K; Biassoni, L; Giuliani, S; - view fewer (2020) Comparison Between Diffusion-Weighted MRI and I-123-mIBG Uptake in Primary High-Risk Neuroblastoma. Journal of Magnetic Resonance Imaging 10.1002/jmri.27458.

Privitera, M; Bhathal, H; Wong, M; Cross, JH; Wirrell, E; Marsh, ED; Mazurkiewicz-Beldzinska, M; ... VanLandingham, K; + view all Privitera, M; Bhathal, H; Wong, M; Cross, JH; Wirrell, E; Marsh, ED; Mazurkiewicz-Beldzinska, M; Villanueva, V; Checketts, D; Knappertz, V; VanLandingham, K; - view fewer (2021) Time to onset of cannabidiol (CBD) treatment effect in Lennox-Gastaut syndrome: Analysis from two randomized controlled trials. Epilepsia 10.1111/epi.16878. (In press).

Proud, CM; Mercuri, E; Finkel, RS; Kirschner, J; De Vivo, DC; Muntoni, F; Saito, K; ... Servais, L; + view all Proud, CM; Mercuri, E; Finkel, RS; Kirschner, J; De Vivo, DC; Muntoni, F; Saito, K; Tizzano, EF; Desguerre, I; Quijano-Roy, S; Benguerba, K; Raju, D; Faulkner, E; Servais, L; - view fewer (2023) Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. Annals of Clinical and Translational Neurology 10.1002/acn3.51889. (In press).

Prussien, KV; Salihu, A; Abdullahi, SU; Galadanci, NA; Bulama, K; Belonwu, RO; Kirkham, FJ; ... Compas, BE; + view all Prussien, KV; Salihu, A; Abdullahi, SU; Galadanci, NA; Bulama, K; Belonwu, RO; Kirkham, FJ; Yarboi, J; Bemis, H; DeBaun, MR; Compas, BE; - view fewer (2018) Associations of transcranial doppler velocity, age, and gender with cognitive function in children with sickle cell anemia in Nigeria. Child Neuropsychology , 25 (6) pp. 705-720. 10.1080/09297049.2018.1526272.

Pujar, S; (2016) The status epilepticus in childhood outcomes study (STEPSOUT): long-term mortality, neurological, cognitive and neuroimaging outcomes. Doctoral thesis , UCL (University College London).

Pujar, SS; Martinos, MM; Cortina-Borja, M; Chong, WKK; De Haan, M; Gillberg, C; Neville, BG; ... Chin, RF; + view all Pujar, SS; Martinos, MM; Cortina-Borja, M; Chong, WKK; De Haan, M; Gillberg, C; Neville, BG; Scott, RC; Chin, RF; - view fewer (2018) Long-term prognosis after childhood convulsive status epilepticus: a prospective cohort study. The Lancet Child and Adolescent Health , 2 (2) pp. 103-111. 10.1016/S2352-4642(17)30174-8.

Pujar, SS; Seunarine, KK; Martinos, MM; Neville, BGR; Scott, RC; Chin, RFM; Clark, CA; (2017) Long-term white matter tract reorganization following prolonged febrile seizures. Epilepsia , 58 (5) pp. 772-780. 10.1111/epi.13724.

Puzzo, I; Seunarine, K; Sully, K; Darekar, A; Clark, C; Sonuga-Barke, EJS; Fairchild, G; (2017) Altered White-Matter Microstructure in Conduct Disorder Is Specifically Associated with Elevated Callous-Unemotional Traits. Journal of Abnormal Child Psychology 10.1007/s10802-017-0375-5. (In press).

Q

Qiu, Yichen; O’Neill, Nathanael; Maffei, Benito; Zourray, Clara; Almacellas-Barbanoj, Amanda; Carpenter, Jenna C; Jones, Steffan P; ... Lignani, Gabriele; + view all Qiu, Yichen; O’Neill, Nathanael; Maffei, Benito; Zourray, Clara; Almacellas-Barbanoj, Amanda; Carpenter, Jenna C; Jones, Steffan P; Leite, Marco; Turner, Thomas J; Moreira, Francisco C; Snowball, Albert; Shekh-Ahmad, Tawfeeq; Magloire, Vincent; Barral, Serena; Kurian, Manju A; Walker, Matthew C; Schorge, Stephanie; Kullmann, Dimitri M; Lignani, Gabriele; - view fewer (2022) On-demand cell-autonomous gene therapy for brain circuit disorders. Science , 378 (6619) pp. 523-532. 10.1126/science.abq6656.

Quiroz, Vicente; Alecu, Julian E; Zubair, Umar; Bernardi, Katerina; Zaman, Zainab; Rong, Joshua; Tam, Amy; ... Ebrahimi-Fakhari, Darius; + view all Quiroz, Vicente; Alecu, Julian E; Zubair, Umar; Bernardi, Katerina; Zaman, Zainab; Rong, Joshua; Tam, Amy; Kunta, Avaneesh; Agianda, Habibah P; Battaglia, Nicole; Schmidt, Henri JD; Resch, Dario; Wyman, Noah; Vogt, Lindsey M; Uraba, Wafa Bani; Becker, Leonie; Kothur, Kavitha; Gill, Deepak; Suarez, Bernardita; Jofre, Javiera I; Arias, Carolina; Castiglioni, Claudia; Da Silva Möller, Patricia Dumke; Pinto Duarte, Andre Felipe; Eggers-Lisboa, Alexander; Ríos-Pohl, Loreto; Gonzalez-Ubilla, Magdalena; Chaudhari, Chinmay; Salazar-Villacorta, Ainara; Tian, Xiaojuan; Dai, Lifang; Ding, Changhong; Zamani, Mina; Nourbakhsh, Pardis; Shariati, Gholamreza; Pringsheim, Tamara; Lim, Wei Kang; Bartolini, Emanuele; Stamelou, Maria; Bhatia, Poonam; Kruer, Michael C; Desai, Soaham; Iype, Mary; Necpál, Ján; Crosiers, David; Jones, Hannah F; Perez-Sanchez, Javier Ricardo; Unal, Esra Demir; Lopez-Ariztegui, Nuria; Kola, Sruthi; Lin, Wei-Sheng; Mansour, Alia Hassan; Triki, Chahnez Charfi; Fernandez-Alvarez, Emilio; Roze, Emmanuel; Sahu, Jitendra; Doja, Asif; Nardocci, Nardo; Caputo, Davide; Koy, Anne; Bhate, Sanjay; Kaliakatsos, Mario; Robinson, Robert; Hassell, Jane; Pons, Roser; Munchau, Alexander; Soliani, Luca; Zea-Vera, Alonso; Tochen, Laura; Morales-Briceño, Hugo; Dale, Russell C; D'Gama, Alissa; Loddenkemper, Tobias; Pearl, Phillip L; Mohammad, Shekeeb S; Kurian, Manju A; Gorodetsky, Carolina; Ortigoza-Escobar, Juan Darío; Schierbaum, Luca; Yang, Kathryn; Ebrahimi-Fakhari, Darius; - view fewer (2025) Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients. Brain , Article awaf297. 10.1093/brain/awaf297. (In press).

R

Radic, J; Pressler, R; Cross, JH; (2019) Benign Familial Neonatal Epilepsy (BFNE). In: Shorvon, Simon and Guerrini, Renzo and Schachter, Steven and Trinka, Eugen, (eds.) The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children, Second Edition. (pp. 143-153). Cambridge University Press

Raga, S; Voermans, N; Perez-Neri, I; Dowling, J; Jungbluth, H; Baranello, G; Servais, L; ... Wilmshurst, J; + view all Raga, S; Voermans, N; Perez-Neri, I; Dowling, J; Jungbluth, H; Baranello, G; Servais, L; Tillema, A; Wilmshurst, J; - view fewer (2024) Treatments for RYR1-related disorders. Cochrane Database of Systematic Reviews , 2024 (12) , Article CD014439. 10.1002/14651858.CD014439.

Raissaki, M; Shelmerdine, SC; Damasio, MB; Toso, S; Kvist, O; Lovrenski, J; Hirsch, FW; ... Caro-Dominguez, P; + view all Raissaki, M; Shelmerdine, SC; Damasio, MB; Toso, S; Kvist, O; Lovrenski, J; Hirsch, FW; Gorkem, SB; Paterson, A; Arthurs, O; Rossi, A; van Schuppen, J; Petit, P; Argyropoulou, M; Offiah, A; Rosendahl, K; Caro-Dominguez, P; - view fewer (2020) Management strategies for children with COVID-19: ESPR practical recommendations. Pediatric Radiology , 50 pp. 1313-1323. 10.1007/s00247-020-04749-3.

Raman, S; Prince, NJ; Hoskote, A; Ray, S; Peters, MJ; (2016) Admission PaO2 and Mortality in Critically Ill Children: A Cohort Study and Systematic Review. Pediatr Crit Care Med , 17 (10) e444-e450. 10.1097/PCC.0000000000000905.

Ramantani, Georgia; Cserpan, Dorottya; Tisdall, Martin; Otte, Willem M; Dorfmüller, Georg; Cross, J Helen; van Schooneveld, Monique; ... Braun, Kees PJ; + view all Ramantani, Georgia; Cserpan, Dorottya; Tisdall, Martin; Otte, Willem M; Dorfmüller, Georg; Cross, J Helen; van Schooneveld, Monique; van Eijsden, Pieter; Nees, Frauke; Reuner, Gitta; Krayenbühl, Niklaus; Zentner, Josef; Bulteau, Christine; Braun, Kees PJ; - view fewer (2024) Determinants of Functional Outcome after Pediatric Hemispherotomy. Annals of Neurology , 95 (2) pp. 377-387. 10.1002/ana.26830.

Ramantani, Georgia; Cserpan, Dorottya; Tisdall, Martin; Otte, Willem M; Dorfmuller, Georg; Jambaque, Isabelle; Cross, J Helen; ... Bulteau, Christine; + view all Ramantani, Georgia; Cserpan, Dorottya; Tisdall, Martin; Otte, Willem M; Dorfmuller, Georg; Jambaque, Isabelle; Cross, J Helen; van Schooneveld, Monique; van Eijsden, Pieter; Reuner, Gitta; Krayenbuhl, Niklaus; Ferrand-Sorbets, Sarah; Zentner, Josef; Braun, Kees PJ; Bulteau, Christine; - view fewer (2025) Determinants of intellectual and developmental outcomes in a multicenter pediatric hemispherotomy cohort. Epilepsia 10.1111/epi.18391. (In press).

Ramantani, G; Schmitt, B; Plecko, B; Pressler, RM; Wohlrab, G; Klebermass-Schrehof, K; Hagmann, C; ... Boylan, GB; + view all Ramantani, G; Schmitt, B; Plecko, B; Pressler, RM; Wohlrab, G; Klebermass-Schrehof, K; Hagmann, C; Pisani, F; Boylan, GB; - view fewer (2019) Neonatal Seizures—Are We there Yet? Neuropediatrics , 50 (5) pp. 280-293. 10.1055/s-0039-1693149.

Ramchandren, S; Wu, TT; Finkel, RS; Siskind, CE; Feely, SME; Burns, J; Reilly, MM; ... Childhood CMT Study Group; + view all Ramchandren, S; Wu, TT; Finkel, RS; Siskind, CE; Feely, SME; Burns, J; Reilly, MM; Estilow, T; Shy, ME; Childhood CMT Study Group; - view fewer (2021) Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure. Annals of Neurology , 89 (2) pp. 369-379. 10.1002/ana.25966.

Ramsey, Danielle; Ramdharry, Gita; Scoto, Mariacristina; Muntoni, Francesco; Wallace, Amanda; SMA REACH UK, network; (2022) Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PLoS One , 17 (12) , Article e0278996. 10.1371/journal.pone.0278996.

Ramsey, D; Scoto, M; Mayhew, A; Main, M; Mazzone, ES; Montes, J; de Sanctis, R; ... Muntoni, F; + view all Ramsey, D; Scoto, M; Mayhew, A; Main, M; Mazzone, ES; Montes, J; de Sanctis, R; Dunaway Young, S; Salazar, R; Glanzman, AM; Pasternak, A; Quigley, J; Mirek, E; Duong, T; Gee, R; Civitello, M; Tennekoon, G; Pane, M; Pera, MC; Bushby, K; Day, J; Darras, BT; De Vivo, D; Finkel, R; Mercuri, E; Muntoni, F; - view fewer (2017) Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PLoS One , 12 (2) , Article e0172346. 10.1371/journal.pone.0172346.

Rasul, FT; Matloob, SA; Haliasos, N; Jankovic, I; Boyd, S; Thompson, DNP; (2019) Intraoperative neurophysiological monitoring in paediatric Chiari surgery—help or hindrance? Child's Nervous System , 35 (10) pp. 1769-1776. 10.1007/s00381-019-04312-y.

Ravenscroft, G; Zaharieva, I; Bortolotti, CA; Lambrughi, M; Pignataro, M; Borsari, M; Sewry, CA; ... Muntoni, F; + view all Ravenscroft, G; Zaharieva, I; Bortolotti, CA; Lambrughi, M; Pignataro, M; Borsari, M; Sewry, CA; Phadke, R; Haliloglu, G; Ong, R; Goullée, H; Whyte, T; UK10K Consortium; Manzur, A; Talim, B; Kaya, U; Osborn, DP; Forrest, A; Laing, NG; Muntoni, F; - view fewer (2018) Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Human Molecular Genetics , 27 (24) pp. 4263-4272. 10.1093/hmg/ddy320.

Razavi, C; Walker, SM; Moonesinghe, SR; Stricker, PA; Pediatric Perioperative Outcomes Group; (2020) Pediatric perioperative outcomes: protocol for a systematic literature review and identification of a core outcome set for infants, children, and young people requiring anesthesia and surgery. Pediatric Anaesthesia , 30 (4) pp. 392-400. 10.1111/pan.13825.

Real, FJ; Hood, AM; Davis, D; Cruse, B; Klein, M; Johnson, Y; McTate, E; ... Crosby, LE; + view all Real, FJ; Hood, AM; Davis, D; Cruse, B; Klein, M; Johnson, Y; McTate, E; Brinkman, WB; Hackworth, R; Hackworth, K; Quinn, CT; Crosby, LE; - view fewer (2022) An Immersive Virtual Reality Curriculum for Pediatric Hematology Clinicians on Shared Decision-making for Hydroxyurea in Sickle Cell Anemia. Journal of Pediatric Hematology/Oncology , 44 (3) e799-e803. 10.1097/mph.0000000000002289.

Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna ME; ... Inherited Neuropathies Consortium - Rare Disease Clinical Resear; + view all Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna ME; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu; Weiss, Michael D; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M; Zuchner, Stephan; Shy, Michael E; Scherer, Steven S; Reilly, Mary M; Inherited Neuropathies Consortium - Rare Disease Clinical Resear; - view fewer (2023) Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain , Article awad187. 10.1093/brain/awad187. (In press).

Redelsperger, F; Raddi, N; Bacquin, A; Vernochet, C; Mariot, V; Gache, V; Blanchard-Gutton, N; ... Heidmann, T; + view all Redelsperger, F; Raddi, N; Bacquin, A; Vernochet, C; Mariot, V; Gache, V; Blanchard-Gutton, N; Charrin, S; Tiret, L; Dumonceaux, J; Dupressoir, A; Heidmann, T; - view fewer (2016) Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice. PLoS Genetics , 12 (9) , Article e1006289. 10.1371/journal.pgen.1006289.

Rees, M; Nikoopour, R; Fukuzawa, A; Kho, AL; Fernandez-Garcia, MA; Wraige, E; Bodi, I; ... Gautel, M; + view all Rees, M; Nikoopour, R; Fukuzawa, A; Kho, AL; Fernandez-Garcia, MA; Wraige, E; Bodi, I; Deshpande, C; Özdemir, Ö; Daimagüler, H-S; Pfuhl, M; Holt, M; Brandmeier, B; Grover, S; Fluss, J; Longman, C; Farrugia, ME; Matthews, E; Hanna, M; Muntoni, F; Sarkozy, A; Phadke, R; Quinlivan, R; Oates, EC; Schröder, R; Thiel, C; Reimann, J; Voermans, N; Erasmus, C; Kamsteeg, E-J; Konersman, C; Grosmann, C; McKee, S; Tirupathi, S; Moore, SA; Wilichowski, E; Hobbiebrunken, E; Dekomien, G; Richard, I; Van den Bergh, P; Domínguez-González, C; Cirak, S; Ferreiro, A; Jungbluth, H; Gautel, M; - view fewer (2021) Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathologia 10.1007/s00401-020-02257-0. (In press).

Reid, Kimberley M; Sanchez-Nieto, Juan Miguel; Terrasse, Sandra; Faccenda, Danilo; Pernaute, Barbara; Campanella, Michelangelo; Rodriguez, Tristan A; Reid, Kimberley M; Sanchez-Nieto, Juan Miguel; Terrasse, Sandra; Faccenda, Danilo; Pernaute, Barbara; Campanella, Michelangelo; Rodriguez, Tristan A; Cobb, Bradley S; - view fewer (2023) MicroRNAs Regulate Ca2+ Homeostasis in Murine Embryonic Stem Cells. Cells , 12 (15) , Article 1957. 10.3390/cells12151957.

Reid, KM; Spaull, R; Salian, S; Barwick, K; Meyer, E; Zhen, J; Hirata, H; ... Kurian, MA; + view all Reid, KM; Spaull, R; Salian, S; Barwick, K; Meyer, E; Zhen, J; Hirata, H; Sheipouri, D; Benkerroum, H; Gorman, KM; Papandreou, A; Simpson, MA; Hirano, Y; Farabella, I; Topf, M; Grozeva, D; Carss, K; Smith, M; Pall, H; Lunt, P; De Gressi, S; Kamsteeg, EJ; Haack, TB; Carr, L; Guerreiro, R; Bras, J; Maher, ER; Scott, RH; Vandenberg, RJ; Raymond, FL; Chong, WK; Sudhakar, S; Mankad, K; Reith, ME; Campeau, PM; Harvey, RJ; Kurian, MA; - view fewer (2022) MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement Disorders 10.1002/mds.29147. (In press).

Reid, C; Arthurs, OJ; Calder, AD; Sebire, NJ; Shelmerdine, SC; (2020) The significance of internal calcifications on perinatal post-mortem radiographs. Clinical Radiology , 75 , Article 561. 10.1016/j.crad.2020.03.007.

Reid, ES; Papandreou, A; Drury, S; Boustred, C; Yue, WW; Wedatilake, Y; Beesley, C; ... Mills, PB; + view all Reid, ES; Papandreou, A; Drury, S; Boustred, C; Yue, WW; Wedatilake, Y; Beesley, C; Jacques, TS; Anderson, G; Abulhoul, L; Broomfield, A; Cleary, M; Grunewald, S; Varadkar, SM; Lench, N; Rahman, S; Gissen, P; Clayton, PT; Mills, PB; - view fewer (2016) Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain , 139 (11) pp. 2844-2854. 10.1093/brain/aww221.

Reilly, C; Muggeridge, A; Cross, JH; (2021) The perceived impact of COVID-19 and associated restrictions on young people with epilepsy in the UK: Young people and caregiver survey. Seizure , 85 pp. 111-114. 10.1016/j.seizure.2020.12.024.

Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Cross, JH; Das, KB; ... Scott, RC; + view all Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Cross, JH; Das, KB; Gillberg, C; Neville, BGR; Scott, RC; - view fewer (2019) Autism, ADHD and parent-reported behavioural difficulties in young children with epilepsy. Seizure , 71 pp. 233-239. 10.1016/j.seizure.2019.08.003.

Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Cross, JH; Das, KB; ... Scott, RC; + view all Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Cross, JH; Das, KB; Gillberg, C; Neville, BGR; Scott, RC; - view fewer (2018) Child and parental sleep in young children with epilepsy: A population-based case-control study. Epilepsia Open , 3 (3) pp. 383-391. 10.1002/epi4.12241.

Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Das, KB; Cross, JH; ... Scott, RC; + view all Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Das, KB; Cross, JH; Neville, BGR; Gillberg, C; Scott, RC; - view fewer (2018) Parenting stress and perceived stigma in mothers of young children with epilepsy: A case-control study. Epilepsy & Behavior , 89 pp. 112-117. 10.1016/j.yebeh.2018.10.016.

Reilly, C; Baldeweg, T; Stewart, N; Wadhwani, S; Jones, C; Helen Cross, J; Heyman, I; (2019) Do behavior and emotions improve after pediatric epilepsy surgery? A systematic review. Epilepsia , 60 (5) pp. 885-897. 10.1111/epi.14737.

Reilly, C; Grant, M; Bennett, S; Murphy, T; Heyman, I; (2019) Review: Physical exercise in Tourette syndrome – a systematic review. Child and Adolescent Mental Health , 24 (1) pp. 3-11. 10.1111/camh.12263.

Reith, MEA; Kortagere, S; Wiers, CE; Sun, H; Kurian, MA; Galli, A; Volkow, ND; Reith, MEA; Kortagere, S; Wiers, CE; Sun, H; Kurian, MA; Galli, A; Volkow, ND; Lin, Z; - view fewer (2021) The dopamine transporter gene SLC6A3: multidisease risks. Molecular Psychiatry 10.1038/s41380-021-01341-5.

Reza, M; Cox, D; Phillips, L; Johnson, D; Manoharan, V; Grieves, M; Davis, B; ... Lochmüller, H; + view all Reza, M; Cox, D; Phillips, L; Johnson, D; Manoharan, V; Grieves, M; Davis, B; Roos, A; Morgan, J; Hanna, MG; Muntoni, F; Lochmüller, H; - view fewer (2017) MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscular Disorders , 27 (11) pp. 1054-1064. 10.1016/j.nmd.2017.07.001.

Rice, GI; Kitabayashi, N; Barth, M; Briggs, TA; Burton, ACE; Carpanelli, ML; Cerisola, AM; ... Crow, YJ; + view all Rice, GI; Kitabayashi, N; Barth, M; Briggs, TA; Burton, ACE; Carpanelli, ML; Cerisola, AM; Colson, C; Dale, RC; Danti, FR; Darin, N; De Azua, B; De Giorgis, V; De Goede, CGL; Desguerre, I; De laet, C; Eslahi, A; Fahey, MC; Fallon, P; Fay, A; Fazzi, E; Gorman, MP; Gowrinathan, NR; Hully, M; Kurian, MA; Leboucq, N; Lin, J-PS-M; Lines, MA; Mar, SS; Maroofian, R; Marti-Sanchez, L; McCullagh, G; Mojarrad, M; Narayanan, V; Orcesi, S; Ortigoza-Escobar, JD; Perez-Duenas, B; Petit, F; Ramsey, KM; Rasmussen, M; Rivier, F; Rodriguez-Pombo, P; Roubertie, A; Stodberg, TI; Toosi, MB; Toutain, A; Uettwiller, F; Ulrick, N; Vanderver, A; Waldman, A; Livingston, JH; Crow, YJ; - view fewer (2017) Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics , 48 (3) pp. 166-184. 10.1055/s-0037-1601449.

Ricotti, V; Ridout, DA; Pane, M; Main, M; Mayhew, A; Mercuri, E; Manzur, AY; ... on behalf of UK NorthStar Clinical Network, .; + view all Ricotti, V; Ridout, DA; Pane, M; Main, M; Mayhew, A; Mercuri, E; Manzur, AY; Muntoni, F; on behalf of UK NorthStar Clinical Network, .; - view fewer (2016) The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. Journal of Neurology, Neurosurgery & Psychiatry , 87 pp. 149-155. 10.1136/jnnp-2014-309405.

Ricotti, Valeria; Kadirvelu, Balasundaram; Selby, Victoria; Festenstein, Richard; Mercuri, Eugenio; Voit, Thomas; Faisal, A Aldo; (2023) Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. Nature Medicine , 29 (1) pp. 95-103. 10.1038/s41591-022-02045-1.

Ricotti, V; (2016) Evolving natural history in Duchenne muscular dystrophy: implications for standard of care and experimental therapies. Doctoral thesis , UCL (University College London).

Ricotti, V; Evans, MRB; Sinclair, CDJ; Butler, JW; Ridout, DA; Hogrel, J-Y; Emira, A; ... Thornton, JS; + view all Ricotti, V; Evans, MRB; Sinclair, CDJ; Butler, JW; Ridout, DA; Hogrel, J-Y; Emira, A; Morrow, JM; Reilly, MM; Hanna, MG; Janiczek, RL; Matthews, PM; Yousry, TA; Muntoni, F; Thornton, JS; - view fewer (2016) Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials. PLOS ONE , 11 (9) 10.1371/journal.pone.0162542.

Ricotti, V; Selby, V; Ridout, D; Domingos, J; Decostre, V; Mayhew, A; Eagle, M; ... Muntoni, F; + view all Ricotti, V; Selby, V; Ridout, D; Domingos, J; Decostre, V; Mayhew, A; Eagle, M; Butler, J; Guglieri, M; Van der Holst, M; Jansen, M; Verschuuren, JJGM; De Groot, IJM; Niks, EH; Servais, L; Straub, V; Voit, T; Hogrel, JY; Muntoni, F; - view fewer (2019) Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. Neuromuscular Disorders , 29 (4) pp. 261-268. 10.1016/j.nmd.2019.02.002.

Ricotti, V; Spinty, S; Roper, H; Hughes, I; Tejura, B; Robinson, N; Layton, G; ... Tinsley, J; + view all Ricotti, V; Spinty, S; Roper, H; Hughes, I; Tejura, B; Robinson, N; Layton, G; Davies, K; Muntoni, F; Tinsley, J; - view fewer (2016) Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy. PLoS One , 11 (4) , Article e0152840. 10.1371/journal.pone.0152840.

Ripart, Mathilde; (2025) Automated Detection of MRI Pathology in Epilepsy. Doctoral thesis (Ph.D), UCL (University College London).

Ripart, Mathilde; Spitzer, Hannah; Williams, Logan ZJ; Walger, Lennart; Chen, Andrew; Napolitano, Antonio; Rossi-Espagnet, Camilla; ... Whitaker, Kirstie; + view all Ripart, Mathilde; Spitzer, Hannah; Williams, Logan ZJ; Walger, Lennart; Chen, Andrew; Napolitano, Antonio; Rossi-Espagnet, Camilla; Foldes, Stephen T; Hu, Wenhan; Mo, Jiajie; Likeman, Marcus; Rüber, Theodor; Caligiuri, Maria Eugenia; Gambardella, Antonio; Guttler, Christopher; Tietze, Anna; Lenge, Matteo; Guerrini, Renzo; Cohen, Nathan T; Wang, Irene; Kloster, Ane; Pinborg, Lars H; Hamandi, Khalid; Jackson, Graeme; Tortora, Domenico; Tisdall, Martin; Conde-Blanco, Estefania; Pariente, Jose C; Perez-Enriquez, Carmen; Gonzalez-Ortiz, Sofia; Mullatti, Nandini; Vecchiato, Katy; Liu, Yawu; Kalviainen, Reetta; Sokol, Drahoslav; Shetty, Jay; Sinclair, Benjamin; Vivash, Lucy; Willard, Anna; Winston, Gavin P; Yasuda, Clarissa; Cendes, Fernando; Shinohara, Russell T; Duncan, John S; Cross, J Helen; Baldeweg, Torsten; Robinson, Emma C; Iglesias, Juan Eugenio; Adler, Sophie; Wagstyl, Konrad; MELD FCD writing group; Fawaz, Abdulah; De Benedictis, Alessandro; De Palma, Luca; Zhang, Kai; Labate, Angelo; Barba, Carmen; You, Xiaozhen; Gaillard, William D; Tang, Yingying; Wang, Shan; Davies, Shirin; Semmelroch, Mira; Severino, Mariasavina; Striano, Pasquale; Chari, Aswin; D'Arco, Felice; Mankad, Kshitij; Bargallo, Nuria; Pascual-Diaz, Saul; Delgado-Martinez, Ignacio; O'Muircheartaigh, Jonathan; Abela, Eugenio; Kandasamy, Jothy; McLellan, Ailsa; Desmond, Patricia; Lui, Elaine; O'Brien, Terence J; Whitaker, Kirstie; - view fewer (2025) Detection of Epileptogenic Focal Cortical Dysplasia Using Graph Neural Networks: A MELD Study. JAMA Neurology 10.1001/jamaneurol.2024.5406. (In press).

Robinson, GA; Peng, J; Peckham, H; Radziszewska, A; Butler, G; Pineda-Torra, I; Jury, EC; Robinson, GA; Peng, J; Peckham, H; Radziszewska, A; Butler, G; Pineda-Torra, I; Jury, EC; Ciurtin, C; - view fewer (2021) Sex hormones drive changes in lipoprotein metabolism. iScience , Article 103257. 10.1016/j.isci.2021.103257.

Robinson, George A; Peng, Junjie; Peckham, Hannah; Butler, Gary; Pineda-Torra, Ines; Ciurtin, Coziana; Jury, Elizabeth C; (2022) Investigating sex differences in T regulatory cells from cisgender and transgender healthy individuals and patients with autoimmune inflammatory disease: a cross-sectional study. The Lancet Rheumatology , 4 (10) e710-e724. 10.1016/S2665-9913(22)00198-9.

Robinson, A; Partridge, D; Malhas, A; De Castro, SC; Gustavsson, P; Thompson, DN; Vaux, DJ; ... Greene, ND; + view all Robinson, A; Partridge, D; Malhas, A; De Castro, SC; Gustavsson, P; Thompson, DN; Vaux, DJ; Copp, AJ; Stanier, P; Bassuk, AG; Greene, ND; - view fewer (2013) Is LMNB1 a susceptibility gene for neural tube defects in humans? Birth Defects Research Part A: Clinical and Molecular Teratology , 97 (6) pp. 398-402. 10.1002/bdra.23141.

Rodríguez Cruz, PM; Belaya, K; Basiri, K; Sedghi, M; Farrugia, ME; Holton, JL; Liu, WW; ... Beeson, D; + view all Rodríguez Cruz, PM; Belaya, K; Basiri, K; Sedghi, M; Farrugia, ME; Holton, JL; Liu, WW; Maxwell, S; Petty, R; Walls, TJ; Kennett, R; Pitt, M; Sarkozy, A; Parton, M; Lochmüller, H; Muntoni, F; Palace, J; Beeson, D; - view fewer (2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Journal of Neurology, Neurosurgery & Psychiatry , 87 (8) pp. 802-809. 10.1136/jnnp-2016-313163.

Rodriguez-Florez, N; Ibrahim, A; Hutchinson, JC; Borghi, A; James, G; Arthurs, O; Ferretti, P; ... Jeelani, NUO; + view all Rodriguez-Florez, N; Ibrahim, A; Hutchinson, JC; Borghi, A; James, G; Arthurs, O; Ferretti, P; Dunaway, D; Schievano, S; Jeelani, NUO; - view fewer (2017) Cranial bone structure in children with sagittal craniosynostosis: relationship with surgical outcomes. Journal of Plastic, Reconstructive & Aesthetic Surgery , 70 (11) pp. 1589-1597. 10.1016/j.bjps.2017.06.017.

Rogers, HJ; Verhagen, MV; Shelmerdine, SC; Clark, CA; Hales, PW; (2019) An alternative approach to contrast-enhanced imaging: diffusion-weighted imaging and T1-weighted imaging identifies and quantifies necrosis in Wilms tumour. European Radiology , 29 (8) pp. 4141-4149. 10.1007/s00330-018-5907-z.

Rogers, HJ; Verhagen, MV; Clark, CA; Hales, PW; (2020) Comparison of models of diffusion in Wilms' tumours and normal contralateral renal tissue. Magnetic Resonance Materials in Physics, Biology and Medicine 10.1007/s10334-020-00862-4. (In press).

Rogers, L; Ray, S; Johnson, M; Feinstein, Y; Dominguez, TE; Peters, MJ; Hoskote, A; Rogers, L; Ray, S; Johnson, M; Feinstein, Y; Dominguez, TE; Peters, MJ; Hoskote, A; Brown, KL; - view fewer (2019) The Inadequate Oxygen Delivery Index and Low Cardiac Output Syndrome Score As predictors of Adverse Events Associated With Low Cardiac Output Syndrome Early After Cardiac Bypass. Pediatric Critical Care Medicine , 20 (8) pp. 737-743. 10.1097/PCC.0000000000001960.

Rosch, RE; Auksztulewicz, R; Leung, PD; Friston, KJ; Baldeweg, T; (2019) Selective Prefrontal Disinhibition in a Roving Auditory Oddball Paradigm Under N-Methyl-D-Aspartate Receptor Blockade. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging , 4 (2) pp. 140-150. 10.1016/j.bpsc.2018.07.003.

Rosch, RE; Baldeweg, T; Moeller, F; Baier, G; (2017) Network dynamics in the healthy and epileptic developing brain. Network Neuroscience 10.1162/NETN_a_00026. (In press).

Rosch, RE; Hunter, PR; Baldeweg, T; Friston, KJ; Meyer, MP; (2018) Calcium imaging and dynamic causal modelling reveal brain-wide changes in effective connectivity and synaptic dynamics during epileptic seizures. PLoS Computational Biology , 14 (8) , Article e1006375. 10.1371/journal.pcbi.1006375.

Rosch, RE; Wright, S; Cooray, G; Papadopoulou, M; Goyal, S; Lim, M; Vincent, A; ... Friston, KJ; + view all Rosch, RE; Wright, S; Cooray, G; Papadopoulou, M; Goyal, S; Lim, M; Vincent, A; Upton, AL; Baldeweg, T; Friston, KJ; - view fewer (2018) NMDA-receptor antibodies alter cortical microcircuit dynamics. Proceedings of the National Academy of Sciences , 115 (42) E9916-E9925. 10.1073/pnas.1804846115.

Rosen, CL; Debaun, MR; Strunk, RC; Redline, S; Seicean, S; Craven, DI; Gavlak, JCD; ... Kirkham, FJ; + view all Rosen, CL; Debaun, MR; Strunk, RC; Redline, S; Seicean, S; Craven, DI; Gavlak, JCD; Wilkey, O; Inusa, B; Roberts, I; Goodpaster, RL; Malow, B; Rodeghier, M; Kirkham, FJ; - view fewer (2014) Obstructive Sleep Apnea and Sickle Cell Anemia. Pediatrics , 134 (2) pp. 273-281. 10.1542/peds.2013-4223.

Ross, JA; Tasfaout, H; Levy, Y; Morgan, J; Cowling, BS; Laporte, J; Zanoteli, E; ... Ochala, J; + view all Ross, JA; Tasfaout, H; Levy, Y; Morgan, J; Cowling, BS; Laporte, J; Zanoteli, E; Romero, NB; Lowe, DA; Jungbluth, H; Lawlor, MW; Mack, DL; Ochala, J; - view fewer (2020) rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy. Acta Neuropathologica Communications , 8 (1) , Article 167. 10.1186/s40478-020-01048-8.

Ross, JA; Webster, RG; Lechertier, T; Reynolds, LE; Turmaine, M; Bencze, M; Jamshidi, Y; ... Conti, FJ; + view all Ross, JA; Webster, RG; Lechertier, T; Reynolds, LE; Turmaine, M; Bencze, M; Jamshidi, Y; Cetin, H; Muntoni, F; Beeson, D; Hodilvala-Dilke, K; Conti, FJ; - view fewer (2017) Multiple roles of integrin-α3 at the neuromuscular junction. Journal of Cell Science , 130 (10) pp. 1772-1784. 10.1242/jcs.201103.

Rossi, Rachele; Fang, Mingyan; Zhu, Lin; Jiang, Chongyi; Yu, Cong; Flesia, Cristina; Nie, Chao; ... Ferlini, Alessandra; + view all Rossi, Rachele; Fang, Mingyan; Zhu, Lin; Jiang, Chongyi; Yu, Cong; Flesia, Cristina; Nie, Chao; Li, Wenyan; Ferlini, Alessandra; - view fewer (2022) Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy. PLoS One , 17 (3) , Article e0265469. 10.1371/journal.pone.0265469.

Rossi, Rachele; Johansson, Camilla; Heywood, Wendy; Vinette, Heloise; Jensen, Gabriella; Tegel, Hanna; Jiménez-Requena, Albert; ... Ferlini, Alessandra; + view all Rossi, Rachele; Johansson, Camilla; Heywood, Wendy; Vinette, Heloise; Jensen, Gabriella; Tegel, Hanna; Jiménez-Requena, Albert; Torelli, Silvia; Al-Khalili Szigyarto, Cristina; Ferlini, Alessandra; - view fewer (2023) A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring. International Journal of Molecular Sciences , 24 (6) , Article 5215. 10.3390/ijms24065215.

Rossi, Rachele; Torelli, Silvia; Ala, Pierpaolo; Weston, William; Morgan, Jennifer; Malhotra, Jyoti; Muntoni, Francesco; (2023) MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications. Frontiers in Physiology , 14 , Article 1145047. 10.3389/fphys.2023.1145047.

Rossi, R; Falzarano, MS; Osman, H; Armaroli, A; Scotton, C; Mantuano, P; Boccanegra, B; ... Ferlini, A; + view all Rossi, R; Falzarano, MS; Osman, H; Armaroli, A; Scotton, C; Mantuano, P; Boccanegra, B; Cappellari, O; Schwartz, E; Yuryev, A; Mercuri, E; Bertini, E; D’Amico, A; Mora, M; Johansson, C; Al-Khalili Szigyarto, C; De Luca, A; Ferlini, A; - view fewer (2021) Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients. Frontiers in Physiology , 12 , Article 678974. 10.3389/fphys.2021.678974.

Rossignoli, G; Krämer, K; Lugarà, E; Alrashidi, H; Pope, S; De La Fuente Barrigon, C; Barwick, K; ... Kurian, MA; + view all Rossignoli, G; Krämer, K; Lugarà, E; Alrashidi, H; Pope, S; De La Fuente Barrigon, C; Barwick, K; Bisello, G; Ng, J; Counsell, J; Lignani, G; Heales, SJR; Bertoldi, M; Barral, S; Kurian, MA; - view fewer (2021) Aromatic L-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies. Brain 10.1093/brain/awab123. (In press).

Rossor, AM; Sleigh, JN; Groves, M; Muntoni, F; Reilly, MM; Hoogenraad, CC; Schiavo, G; (2020) Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. Acta Neuropathol Commun , 8 , Article 34. 10.1186/s40478-020-00909-6.

Roth, Charlotte; Kilpinen, Helena; Kurian, Manju A; Barral, Serena; (2023) Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies. Frontiers in Cell and Developmental Biology , 11 , Article 1090046. 10.3389/fcell.2023.1090046.

Roubertie, Agathe; Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Flint, Lisa; Willemsen, Michel A; Leuzzi, Vincenzo; ... Pearson, Toni S; + view all Roubertie, Agathe; Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Flint, Lisa; Willemsen, Michel A; Leuzzi, Vincenzo; Cazorla, Angels Garcia; Kurian, Manju A; François-Heude, Marie Céline; Hwu, Paul; Zeev, Bruria Ben; Kiening, Karl; Roujeau, Thomas; Pons, Roser; Pearson, Toni S; - view fewer (2023) Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up. Journal of Inherited Metabolic Disease 10.1002/jimd.12649. (In press).

Rougier, NP; Hinsen, K; Alexandre, F; Arildsen, T; Barba, LA; C Y Benureau, A; Brown, CT; ... Zito, T; + view all Rougier, NP; Hinsen, K; Alexandre, F; Arildsen, T; Barba, LA; C Y Benureau, A; Brown, CT; deBuy, P; Caglayan, O; Davison, AP; Delsuc, MA; Detorakis, G; Diem, AK; Drix, D; Enel, P; Girard, B; Guest, O; Hall, MG; Henriques, RN; Hinaut, X; Jaron, KS; Khamassi, M; Klein, A; Manninen, T; Marchesi, P; McGlinn, D; Metzner, C; Petchey, O; Plesser, HE; Poisot, T; Ram, K; Ram, Y; Roesch, E; Rossant, C; Rostami, V; Shifman, A; Stachelek, J; Stimberg, M; Stollmeier, F; Vaggi, F; Viejo, G; Vitay, J; Vostinar, AE; Yurchak, R; Zito, T; - view fewer (2017) Sustainable computational science: The ReScience Initiative. PeerJ Computer Science , 3 , Article e142. 10.7717/peerj-cs.142.

Rouillon, J; Lefebvre, T; Denard, J; Puy, V; Daher, R; Ausseil, J; Zocevic, A; ... Svinartchouk, F; + view all Rouillon, J; Lefebvre, T; Denard, J; Puy, V; Daher, R; Ausseil, J; Zocevic, A; Fogel, P; Peoc'h, K; Wong, B; Servais, L; Voit, T; Puy, H; Karim, Z; Svinartchouk, F; - view fewer (2018) High urinary ferritin reflects myoglobin iron evacuation in DMD patients. Neuromuscular Disorders , 28 (7) pp. 564-571. 10.1016/j.nmd.2018.03.008.

Rozkalne, A; Adkin, C; Meng, J; Lapan, A; Morgan, JE; Gussoni, E; (2014) Mouse Regenerating Myofibers Detected as False-Positive Donor Myofibers with Anti-Human Spectrin. Human Gene Therapy , 25 (1) 73 - 81. 10.1089/hum.2013.126.

Rudebeck, SR; Shavel-Jessop, S; Varadkar, S; Owen, T; Cross, JH; Vargha-Khadem, F; Baldeweg, T; (2018) Pre- and postsurgical cognitive trajectories and quantitative MRI changes in Rasmussen syndrome. Epilepsia , 59 (6) pp. 1210-1219. 10.1111/epi.14192.

S

Sa, M; Singh, R; Pujar, S; D'Arco, F; Desai, N; Eltze, C; Hughes, E; ... Valentin, A; + view all Sa, M; Singh, R; Pujar, S; D'Arco, F; Desai, N; Eltze, C; Hughes, E; Al Obaidi, M; Eleftheriou, D; Tisdall, M; Selway, R; Cross, JH; Kaliakatsos, M; Valentin, A; - view fewer (2019) Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes. European Journal of Paediatric Neurology , 23 (5) pp. 749-754. 10.1016/j.ejpn.2019.08.001.

Sabbatini, Daniele; Fusto, Aurora; Vianello, Sara; Villa, Matteo; Janik, Joanna; D'Angelo, Grazia; Diella, Eleonora; ... Pegoraro, Elena; + view all Sabbatini, Daniele; Fusto, Aurora; Vianello, Sara; Villa, Matteo; Janik, Joanna; D'Angelo, Grazia; Diella, Eleonora; Magri, Francesca; Comi, Giacomo P; Panicucci, Chiara; Bruno, Claudio; D'Amico, Adele; Bertini, Enrico; Astrea, Guja; Battini, Roberta; Politano, Luisa; Masson, Riccardo; Baranello, Giovanni; Previtali, Stefano C; Messina, Sonia; Vita, Gianluca; Berardinelli, Angela; Mongini, Tiziana; Pini, Antonella; Pane, Marika; Mercuri, Eugenio; Hoffman, Eric P; Morgenroth, Lauren; Gordish-Dressman, Heather; Duong, Tina; McDonald, Craig M; Bello, Luca; Pegoraro, Elena; - view fewer (2022) Genetic modifiers of upper limb function in Duchenne muscular dystrophy. Journal of Neurology , 269 pp. 4884-4894. 10.1007/s00415-022-11133-8.

Sacco, A; Ushakov, F; Thompson, D; Peebles, D; Pandya, P; De Coppi, P; Wimalasundera, R; ... Deprest, J; + view all Sacco, A; Ushakov, F; Thompson, D; Peebles, D; Pandya, P; De Coppi, P; Wimalasundera, R; Attilakos, G; David, AL; Deprest, J; - view fewer (2019) Fetal surgery for open spina bifida. [Review]. The Obstetrician & Gynaecologist , 21 (4) pp. 271-282. 10.1111/tog.12603.

Sadleir, LG; Mountier, EI; Gill, D; Davis, S; Joshi, C; DeVile, C; Kurian, MA; ... Scheffer, IE; + view all Sadleir, LG; Mountier, EI; Gill, D; Davis, S; Joshi, C; DeVile, C; Kurian, MA; DDD Study, .; Mandelstam, S; Wirrell, E; Nickels, KC; Murali, HR; Carvill, G; Myers, CT; Mefford, HC; Scheffer, IE; - view fewer (2017) Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Neurology , 89 (10) pp. 1035-1042. 10.1212/WNL.0000000000004331.

Saengkaew, T; Patel, HR; Banerjee, K; Butler, G; Dattani, MT; McGuigan, M; Storr, HL; ... Howard, SR; + view all Saengkaew, T; Patel, HR; Banerjee, K; Butler, G; Dattani, MT; McGuigan, M; Storr, HL; Willemsen, RH; Dunkel, L; Howard, SR; - view fewer (2021) Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty. European Journal of Endocrinology , 185 (5) pp. 617-627. 10.1530/EJE-21-0387.

Saenz, A; Piper, RJ; Thompson, D; Tahir, MZ; (2023) Endoscopic third ventriculostomy for the management of children with cerebrospinal fluid disorders, ventriculomegaly, and associated Chiari I malformation. World Neurosurgery: X , 19 , Article 100200. 10.1016/j.wnsx.2023.100200.

Sahni, H; (2014) The molecular regulation of T cell development and function (Sahni, , Trans.). Doctoral thesis , UCL (University College London).

Saini, Maneet Kaur; (2023) Cognitive, language, and psychosocial outcomes in children with complex congenital heart disease: A longitudinal cohort study from infancy to early school years. Doctoral thesis (Ph.D), UCL (University College London).

Sakkalou, E; O'Reilly, MA; Sakki, H; Springall, C; de Haan, M; Salt, AT; Dale, NJ; (2020) Mother-infant interactions with infants with congenital visual impairment and associations with longitudinal outcomes in cognition and language. Journal of Child Psychology and Psychiatry 10.1111/jcpp.13308. (In press).

Sakkalou, E; Sakki, H; O'reilly, MA; Salt, AT; Dale, NJ; (2018) Parenting stress, anxiety, and depression in mothers with visually impaired infants: a cross‐sectional and longitudinal cohort analysis. Developmental Medicine & Child Neurology , 60 (3) pp. 290-298. 10.1111/dmcn.13633.

Sakki, Hanna; Dale, Naomi J; Mankad, Kshitij; Sargent, Jenefer; Talenti, Giacomo; Bowman, Richard; (2022) Exploratory Investigation of Brain MRI Lesions According to Whole Sample and Visual Function Subtyping in Children With Cerebral Visual Impairment. Frontiers , 15 , Article 765371. 10.3389/fnhum.2021.765371.

Salaets, T; Turner, MA; Short, M; Ward, RM; Hokuto, I; Ariagno, RL; Klein, A; ... Zeldis, S; + view all Salaets, T; Turner, MA; Short, M; Ward, RM; Hokuto, I; Ariagno, RL; Klein, A; Beauman, S; Wade, K; Thomson, M; Roberts, E; Harrison, J; Quinn, T; Baer, G; Davis, J; Allegaert, K; Allen, M; Allen, A; Freimane, DA; Aschner, J; Ballard, R; Belew, Y; Bax, R; Bellflower, B; Bhatt-Mehta, V; Blum, M; Bonardi, C; Bondurant, P; Boylan, G; Buracchio, T; Burckart, G; Burnett, A; Burnham, J; Carlson, C; Chen, A; Clay, B; Cohen, A; Connolly, E; Connor, E; Darsey, E; De Lisa, R; Degl, J; Dempsey, E; Diacovo, T; Dionne, J; Duchon, J; Eklund, W; Fabbri, L; Fielder, A; Freilich, E; Furst-Recktenwald, S; Graham, T; Green, D; Grogan, C; Heiselman, D; Hellstrom, A; Herold, R; Hibbs, AM; Hirschfeld, S; Brown, MH; Holberton, J; Iveli, P; Jobe, A; Kayton, A; Kenner, C; Kraft, W; Kusuda, S; Lacaze, T; Lewis, T; Lui, K; Lutsar, I; Mangili, A; Mangum, B; McCune, S; McDonald, K; McGuire, C; McPherson, C; Miller, T; Ming, J; Mitzner, A; Modi, N; Morrison, M; Morsing, E; Mulugeta, L; Nakamura, H; Nelson, S; Noel, G; Olshansky, M; Oschman, A; Ozsahin, H; Padula, M; Peiris, V; Koplowitz, LP; Pham, J; Pilon, A; Portman, R; Pressler, R; Rabe, H; Raju, T; Roepke, DA; Savani, R; Schnell, P; Segal, R; Senterre, T; Shah, P; Sheridan, P; Sherwin, C; Singh, R; Soll, R; Soul, J; Spence, K; Storari, L; Taminiau, J; Tseng, B; Van Den Anker, J; Varga, J; Venkataraman, P; Vivas, N; Walker, K; Wilson, J; Zajicek, A; Zaloga, G; Zeldis, S; - view fewer (2019) Development of a neonatal adverse event severity scale through a Delphi consensus approach. Archives of Disease in Childhood , 104 (12) pp. 1167-1173. 10.1136/archdischild-2019-317399.

Salim, Omar; Chari, Aswin; Ben Zvi, Ido; Batchelor, Rachel; Jones, Monika; Baldeweg, Torsten; Cross, J Helen; Salim, Omar; Chari, Aswin; Ben Zvi, Ido; Batchelor, Rachel; Jones, Monika; Baldeweg, Torsten; Cross, J Helen; Tisdall, Martin; - view fewer (2024) Patient, parent and carer perspectives surrounding expedited paediatric epilepsy surgery. Epilepsy Research , 200 , Article 107309. 10.1016/j.eplepsyres.2024.107309.

Salim, Omar; Chari, Aswin; Zvi, Ido Ben; Batchelor, Rachel; Baldeweg, Torsten; Helen Cross, J; Tisdall, Martin; (2023) Clinician views regarding early surgery for paediatric epilepsy. Seizure: European Journal of Epilepsy , 113 pp. 80-85. 10.1016/j.seizure.2023.11.011.

Salman, RA-S; Kitchen, N; Thomson, J; Ganesan, V; Mallucci, C; Radatz, M; (2016) Top ten research priorities for brain and spine cavernous malformations. [Letter]. The Lancet Neurology , 15 (4) pp. 354-355. 10.1016/S1474-4422(16)00039-9.

Salpietro, V; Lin, W; Delle Vedove, A; Storbeck, M; Liu, Y; Efthymiou, S; Manole, A; ... Houlden, H; + view all Salpietro, V; Lin, W; Delle Vedove, A; Storbeck, M; Liu, Y; Efthymiou, S; Manole, A; Wiethoff, S; Ye, Q; Saggar, A; McElreavey, K; Krishnakumar, SS; Pitt, M; Bello, OD; Rothman, JE; Basel-Vanagaite, L; Hubshman, MW; Aharoni, S; Manzur, AY; Wirth, B; Houlden, H; - view fewer (2017) Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome. Annals of Neurology , 81 (4) pp. 597-603. 10.1002/ana.24905.

Salter, CG; Beijer, D; Hardy, H; Barwick, KES; Bower, M; Mademan, I; De Jonghe, P; ... Crosby, AH; + view all Salter, CG; Beijer, D; Hardy, H; Barwick, KES; Bower, M; Mademan, I; De Jonghe, P; Deconinck, T; Russell, MA; McEntagart, MM; Chioza, BA; Blakely, RD; Chilton, JK; De Bleecker, J; Baets, J; Baple, EL; Walk, D; Crosby, AH; - view fewer (2018) Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurology Genetics , 4 (2) , Article e222. 10.1212/NXG.0000000000000222.

Samia, P; Naanyu, V; Cross, JH; Idro, R; Boon, P; Wilmshurst, J; Luchters, S; (2021) Qualitative exploration of feasibility and acceptability of the modified ketogenic dietary therapy for children with drug-resistant epilepsy in Kenya. Epilepsy & Behavior , 125 , Article 108362. 10.1016/j.yebeh.2021.108362.

Sanchis-Juan, A; Megy, K; Stephens, J; Armirola Ricaurte, C; Dewhurst, E; Low, K; French, CE; ... Carss, KJ; + view all Sanchis-Juan, A; Megy, K; Stephens, J; Armirola Ricaurte, C; Dewhurst, E; Low, K; French, CE; Grozeva, D; Stirrups, K; Erwood, M; McTague, A; Penkett, CJ; Shamardina, O; Tuna, S; Daugherty, LC; Gleadall, N; Duarte, ST; Hedrera-Fernández, A; Vogt, J; Ambegaonkar, G; Chitre, M; Josifova, D; Kurian, MA; Parker, A; Rankin, J; Reid, E; Wakeling, E; Wassmer, E; Woods, CG; Raymond, FL; Carss, KJ; - view fewer (2023) Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. American Journal of Human Genetics , 110 (8) pp. 1343-1355. 10.1016/j.ajhg.2023.07.007.

Sanchis-Juan, A; Hasenahuer, MA; Baker, JA; McTague, A; Barwick, K; Kurian, MA; Duarte, ST; ... Raymond, FL; + view all Sanchis-Juan, A; Hasenahuer, MA; Baker, JA; McTague, A; Barwick, K; Kurian, MA; Duarte, ST; Carss, KJ; Thornton, J; Raymond, FL; - view fewer (2020) Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate. Molecular Genetics & Genomic Medicine , Article e1106. 10.1002/mgg3.1106. (In press).

Sankar, R; Kirkham, FJ; Holmes, GL; Pina-Garza, JE; Wheless, J; Gama, H; Moreira, J; ... Grinnell, T; + view all Sankar, R; Kirkham, FJ; Holmes, GL; Pina-Garza, JE; Wheless, J; Gama, H; Moreira, J; Cantu, D; Tosiello, R; Blum, D; Grinnell, T; - view fewer (2020) Long-term safety and tolerability of adjunctive eslicarbazepine acetate in children with focal seizures. Epilepsy and Behavior , 112 , Article 107458. 10.1016/j.yebeh.2020.107458.

Sanson, M; Vu Hong, A; Massourides, E; Bourg, N; Suel, L; Amor, F; Corre, G; ... Israeli, D; + view all Sanson, M; Vu Hong, A; Massourides, E; Bourg, N; Suel, L; Amor, F; Corre, G; Bénit, P; Barthélémy, I; Blot, S; Bigot, A; Pinset, C; Rustin, P; Servais, L; Voit, T; Richard, I; Israeli, D; - view fewer (2020) miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy. Scientific Reports , 10 (1) , Article 9139. 10.1038/s41598-020-66016-7.

Saoudi, Amel; Barberat, Sacha; le Coz, Olivier; Vacca, Ophélie; Doisy Caquant, Mathilde; Tensorer, Thomas; Sliwinski, Eric; ... Goyenvalle, Aurélie; + view all Saoudi, Amel; Barberat, Sacha; le Coz, Olivier; Vacca, Ophélie; Doisy Caquant, Mathilde; Tensorer, Thomas; Sliwinski, Eric; Garcia, Luis; Muntoni, Francesco; Vaillend, Cyrille; Goyenvalle, Aurélie; - view fewer (2023) Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in mdx52 mice. Molecular Therapy - Nucleic Acids , 32 pp. 173-188. 10.1016/j.omtn.2023.03.009.

Saoudi, Amel; Fergus, Claire; Gileadi, Talia; Montanaro, Federica; Morgan, Jennifer E; Kelly, Vincent P; Tensorer, Thomas; ... Goyenvalle, Aurélie; + view all Saoudi, Amel; Fergus, Claire; Gileadi, Talia; Montanaro, Federica; Morgan, Jennifer E; Kelly, Vincent P; Tensorer, Thomas; Garcia, Luis; Vaillend, Cyrille; Muntoni, Francesco; Goyenvalle, Aurélie; - view fewer (2023) Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models. Cells , 12 (6) , Article 908. 10.3390/cells12060908.

Saposnik, Gustavo; Bushnell, Cheryl; Coutinho, Jonathan M; Field, Thalia S; Furie, Karen L; Galadanci, Najibah; Kam, Wayneho; ... American Heart Association Stroke Council; Council on Cardiopulm; + view all Saposnik, Gustavo; Bushnell, Cheryl; Coutinho, Jonathan M; Field, Thalia S; Furie, Karen L; Galadanci, Najibah; Kam, Wayneho; Kirkham, Fenella C; McNair, Norma D; Singhal, Aneesh B; Thijs, Vincent; Yang, Victor XD; American Heart Association Stroke Council; Council on Cardiopulm; - view fewer (2024) Diagnosis and Management of Cerebral Venous Thrombosis: A Scientific Statement From the American Heart Association. Stroke , 55 (3) , Article 2744. 10.1161/STR.0000000000000456.

Sardone, V; Ellis, M; Torelli, S; Feng, L; Chambers, D; Eastwood, D; Sewry, C; ... Muntoni, F; + view all Sardone, V; Ellis, M; Torelli, S; Feng, L; Chambers, D; Eastwood, D; Sewry, C; Phadke, R; Morgan, JE; Muntoni, F; - view fewer (2018) A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. PLoS One , 13 (3) , Article e0194540. 10.1371/journal.pone.0194540.

Sardone, V; Zhou, H; Muntoni, F; Ferlini, A; Falzarano, MS; (2017) Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. Molecules , 22 (4) , Article 563. 10.3390/molecules22040563.

Sarkozy, A; Foley, AR; Zambon, AA; Bönnemann, CG; Muntoni, F; (2020) LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. Frontiers in Molecular Neuroscience , 13 , Article 123. 10.3389/fnmol.2020.00123.

Sarkozy, A; Torelli, S; Mein, R; Henderson, M; Phadke, R; Feng, L; Sewry, CA; ... Muntoni, F; + view all Sarkozy, A; Torelli, S; Mein, R; Henderson, M; Phadke, R; Feng, L; Sewry, CA; Ala, P; Yau, M; Bertoli, M; Willis, T; Hammans, S; Manzur, A; Sframeli, M; Norwood, F; Rakowicz, W; Radunovic, A; Vaidya, SS; Parton, M; Walker, M; Marino, S; Offiah, C; Farrugia, ME; Mamutse, G; Marini-Bettolo, C; Wraige, E; Beeson, D; Lochmüller, H; Straub, V; Bushby, K; Barresi, R; Muntoni, F; - view fewer (2018) Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry , 89 (7) pp. 762-768. 10.1136/jnnp-2017-316956.

Sartorelli, J; Ng, J; Rahim, AA; Waddington, SN; Kurian, MA; (2025) Genetic therapies for movement disorders - current status. Journal of Neurology , 272 , Article 220. 10.1007/s00415-025-12940-5.

Sauter, M; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... TOSCA investigators, .; + view all Sauter, M; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augères, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, A; Kingswood, JC; TOSCA investigators, .; - view fewer (2021) Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet Journal of Rare Diseases , 16 (1) , Article 301. 10.1186/s13023-021-01917-y.

Scaglioni, D; Catapano, F; Ellis, M; Torelli, S; Chambers, D; Feng, L; Beck, M; ... Muntoni, F; + view all Scaglioni, D; Catapano, F; Ellis, M; Torelli, S; Chambers, D; Feng, L; Beck, M; Sewry, C; Monforte, M; Harriman, S; Koenig, E; Malhotra, J; Popplewell, L; Guglieri, M; Straub, V; Mercuri, E; Servais, L; Phadke, R; Morgan, J; Muntoni, F; - view fewer (2021) The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy. Acta Neuropathologica Communications , 9 (1) , Article 7. 10.1186/s40478-020-01106-1.

Scaglioni, D; Ellis, M; Catapano, F; Torelli, S; Chambers, D; Feng, L; Sewry, C; ... Phadke, R; + view all Scaglioni, D; Ellis, M; Catapano, F; Torelli, S; Chambers, D; Feng, L; Sewry, C; Morgan, J; Muntoni, F; Phadke, R; - view fewer (2020) A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies. Acta Neuropathologica Communications , 8 , Article 53. 10.1186/s40478-020-00918-5.

Scala, M; Chua, GL; Chin, CF; Alsaif, HS; Borovikov, A; Riazuddin, S; Riazuddin, S; ... Silver, DL; + view all Scala, M; Chua, GL; Chin, CF; Alsaif, HS; Borovikov, A; Riazuddin, S; Riazuddin, S; Manzini, MC; Severino, M; Kuk, A; Fan, H; Jamshidi, Y; Toosi, MB; Doosti, M; Karimiani, EG; Salpietro, V; Dadali, E; Baydakova, G; Konovalov, F; Lozier, E; O'Connor, E; Sabr, Y; Alfaifi, A; Ashrafzadeh, F; Striano, P; Zara, F; Alkuraya, FS; Houlden, H; Maroofian, R; Silver, DL; - view fewer (2020) Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. European Journal of Human Genetics , 28 pp. 1509-1519. 10.1038/s41431-020-0669-x.

Scerif, F; (2016) Identification of gene networks in childhood epilepsy: evidence from focal cortical dysplasia. Doctoral thesis , UCL (University College London).

Schartner, V; Romero, NB; Donkervoort, S; Treves, S; Munot, P; Pierson, TM; Dabaj, I; ... Laporte, J; + view all Schartner, V; Romero, NB; Donkervoort, S; Treves, S; Munot, P; Pierson, TM; Dabaj, I; Malfatti, E; Zaharieva, IT; Zorzato, F; Neto, OA; Brochier, G; Lornage, X; Eymard, B; Taratuto, AL; Boehm, J; Gonorazky, H; Ramos-Platt, L; Feng, L; Phadke, R; Bharucha-Goebel, DX; Sumner, CJ; Bui, MT; Lacene, E; Beuvin, M; Labasse, C; Dondaine, N; Schneider, R; Thompson, J; Boland, A; Deleuze, J-F; Matthews, E; Pakleza, AN; Sewry, CA; Biancalana, V; Quijano-Roy, S; Muntoni, F; Fardeau, M; Boennemann, CG; Laporte, J; - view fewer (2016) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathologica , 133 (4) pp. 517-533. 10.1007/s00401-016-1656-8.

Scheffer, Ingrid E; Zuberi, Sameer; Mefford, Heather C; Guerrini, Renzo; McTague, Amy; (2024) Developmental and epileptic encephalopathies. Nature Reviews Disease Primers , 10 , Article 61. 10.1038/s41572-024-00546-6.

Scheller, M; Garcia, S; Bathelt, J; de Haan, M; Petrini, K; (2019) Active touch facilitates object size perception in children but not adults: A multisensory event related potential study. Brain Research , 1723 , Article 146381. 10.1016/j.brainres.2019.146381.

Scheller, M; Proulx, MJ; De Haan, M; Dahlmann-Noor, A; Petrini, K; (2020) Late‐ but not early‐onset blindness impairs the development of audio‐haptic multisensory integration. Developmental Science , Article e13001. 10.1111/desc.13001. (In press).

Schiattarella, Gabriele G; Altamirano, Francisco; Kim, Soo Young; Tong, Dan; Ferdous, Anwarul; Piristine, Hande; Dasgupta, Subhajit; ... Hill, Joseph A; + view all Schiattarella, Gabriele G; Altamirano, Francisco; Kim, Soo Young; Tong, Dan; Ferdous, Anwarul; Piristine, Hande; Dasgupta, Subhajit; Wang, Xuliang; French, Kristin M; Villalobos, Elisa; Spurgin, Stephen B; Waldman, Maayan; Jiang, Nan; May, Herman I; Hill, Theodore M; Luo, Yuxuan; Yoo, Heesoo; Zaha, Vlad G; Lavandero, Sergio; Gillette, Thomas G; Hill, Joseph A; - view fewer (2021) Xbp1s-FoxO1 axis governs lipid accumulation and contractile performance in heart failure with preserved ejection fraction. Nature Communications , 12 , Article 1684. 10.1038/s41467-021-21931-9.

Schilling, KG; Rheault, F; Petit, L; Hansen, CB; Nath, V; Yeh, FC; Girard, G; ... Bayrak, RG; + view all Schilling, KG; Rheault, F; Petit, L; Hansen, CB; Nath, V; Yeh, FC; Girard, G; Barakovic, M; Rafael-Patino, J; Yu, T; Fischi-Gomez, E; Pizzolato, M; Ocampo-Pineda, M; Schiavi, S; Canales-Rodríguez, EJ; Daducci, A; Granziera, C; Innocenti, G; Thiran, JP; Mancini, L; Wastling, S; Cocozza, S; Petracca, M; Pontillo, G; Mancini, M; Vos, SB; Vakharia, VN; Duncan, JS; Melero, H; Manzanedo, L; Sanz-Morales, E; Peña-Melián, Á; Calamante, F; Attyé, A; Cabeen, RP; Korobova, L; Toga, AW; Vijayakumari, AA; Parker, D; Verma, R; Radwan, A; Sunaert, S; Emsell, L; De Luca, A; Leemans, A; Bajada, CJ; Haroon, H; Azadbakht, H; Chamberland, M; Genc, S; Tax, CMW; Yeh, PH; Srikanchana, R; Mcknight, CD; Yang, JYM; Chen, J; Kelly, CE; Yeh, CH; Cochereau, J; Maller, JJ; Welton, T; Almairac, F; Seunarine, KK; Clark, CA; Zhang, F; Makris, N; Golby, A; Rathi, Y; O'Donnell, LJ; Xia, Y; Aydogan, DB; Shi, Y; Fernandes, FG; Raemaekers, M; Warrington, S; Michielse, S; Ramírez-Manzanares, A; Concha, L; Aranda, R; Meraz, MR; Lerma-Usabiaga, G; Roitman, L; Fekonja, LS; Calarco, N; Joseph, M; Nakua, H; Voineskos, AN; Karan, P; Grenier, G; Legarreta, JH; Adluru, N; Nair, VA; Prabhakaran, V; Alexander, AL; Kamagata, K; Saito, Y; Uchida, W; Andica, C; Abe, M; Bayrak, RG; - view fewer (2021) Tractography dissection variability: What happens when 42 groups dissect 14 white matter bundles on the same dataset? NeuroImage , 243 , Article 118502. 10.1016/j.neuroimage.2021.118502.

Schmidts, M; Hou, Y; Cortés, CR; Mans, DA; Huber, C; Boldt, K; Patel, M; ... Witman, GB; + view all Schmidts, M; Hou, Y; Cortés, CR; Mans, DA; Huber, C; Boldt, K; Patel, M; van Reeuwijk, J; Plaza, JM; van Beersum, SE; Yap, ZM; Letteboer, SJ; Taylor, SP; Herridge, W; Johnson, CA; Scambler, PJ; Ueffing, M; Kayserili, H; Krakow, D; King, SM; UK10K, .; Beales, PL; Al-Gazali, L; Wicking, C; Cormier-Daire, V; Roepman, R; Mitchison, HM; Witman, GB; - view fewer (2015) TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications , 6 , Article 7074. 10.1038/ncomms8074.

Schoeler, N; Marston, L; Lyons, L; Halsall, S; Jain, R; Titre-Johnson, S; Balogun, M; ... Cross, JH; + view all Schoeler, N; Marston, L; Lyons, L; Halsall, S; Jain, R; Titre-Johnson, S; Balogun, M; Heales, S; Eaton, S; Orford, M; Neal, E; Eltze, C; Stephen, E; Mallick, A; O'Callaghan, F; Agrawal, S; Parker, A; Kirkpatrick, M; Brunklaus, A; McLellan, A; McCullagh, H; Samanta, R; Kneen, R; Tan, J; Devlin, A; Prasad, M; Rattihalli, R; Basu, H; Desurkar, A; Williams, R; Fallon, P; Nazareth, I; Freemantle, N; Cross, JH; - view fewer (2023) Ketogenic diet in infants with epilepsy (KIWE): a randomised controlled trial. Epilepsia , 64 (52) pp. 43-44. 10.1111/epi.17787.

Schoeler, N; Orford, M; Vivekananda, U; Simpson, Z; Van de Bor, B; Smith, H; Balestrini, S; ... K.Vita® Study Group; + view all Schoeler, N; Orford, M; Vivekananda, U; Simpson, Z; Van de Bor, B; Smith, H; Balestrini, S; Rutherford, T; Brennan, E; McKenna, J; Lambert, B; Barker, T; Jackson, R; Williams, R; Sisodiya, S; Eaton, S; Heales, S; Cross, H; Walker, M; K.Vita® Study Group; - view fewer (2021) K.Vita®: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy. Brain Communications , 3 (4) , Article fcab160. 10.1093/braincomms/fcab160.

Schoeler, Natasha E; Marston, Louise; Lyons, Laura; Halsall, Sally; Jain, Ruchika; Titre-Johnson, Siobhan; Balogun, Maryam; ... Cross, J Helen; + view all Schoeler, Natasha E; Marston, Louise; Lyons, Laura; Halsall, Sally; Jain, Ruchika; Titre-Johnson, Siobhan; Balogun, Maryam; Heales, Simon JR; Eaton, Simon; Orford, Michael; Neal, Elizabeth; Eltze, Christin; Stephen, Elma; Mallick, Andrew A; O’Callaghan, Finbar; Agrawal, Shakti; Parker, Alasdair; Kirkpatrick, Martin; Brunklaus, Andreas; McLellan, Ailsa; McCullagh, Helen; Samanta, Rajib; Kneen, Rachel; Jeen Tan, Hui; Devlin, Anita; Prasad, Manish; Rattihalli, Rohini; Basu, Helen; Desurkar, Archana; Williams, Ruth; Fallon, Penny; Nazareth, Irwin; Freemantle, Nicholas; Cross, J Helen; - view fewer (2024) Efficacy and safety of ketogenic diet in infants with epilepsy: KIWE RCT. Efficacy and Mechanism Evaluation , 11 (16) pp. 1-54. 10.3310/yjtr9895.

Schoeler, NE; (2014) The genetic basis for response to the Ketogenic diet in drug-resistant epilepsy. Doctoral thesis , UCL (University College London).

Schoeler, NE; Bell, G; Yuen, A; Kapelner, AD; Heales, SJR; Cross, JH; Sisodiya, S; (2017) An examination of biochemical parameters and their association with response to ketogenic dietary therapies. Epilepsia , 58 (5) pp. 893-900. 10.1111/epi.13729.

Schoeler, NE; Cross, JH; (2020) Ketogenic diet therapy in infants with epilepsy. Paediatrics and Child Health , 30 (10) pp. 356-360. 10.1016/j.paed.2020.07.004.

Schoeler, NE; Leu, C; Balestrini, S; Mudge, JM; Steward, CA; Frankish, A; Leung, M-A; ... Sisodiya, SM; + view all Schoeler, NE; Leu, C; Balestrini, S; Mudge, JM; Steward, CA; Frankish, A; Leung, M-A; Mackay, M; Scheffer, I; Williams, R; Sander, JW; Cross, JH; Sisodiya, SM; - view fewer (2018) Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy. Epilepsia 10.1111/epi.14516.

Schoeler, NE; Leu, C; White, J; Plagnol, V; Ellard, S; Matarin, M; Yellen, G; ... Sisodiya, SM; + view all Schoeler, NE; Leu, C; White, J; Plagnol, V; Ellard, S; Matarin, M; Yellen, G; Thiele, EA; Mackay, M; McMahon, JM; Scheffer, IE; Sander, JW; Cross, JH; Sisodiya, SM; - view fewer (2015) Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Research , 118 pp. 22-28. 10.1016/j.eplepsyres.2015.10.003.

Schoeler, NE; Simpson, Z; Whiteley, VJ; Nguyen, P; Meskell, R; Lightfoot, K; Martin-McGill, KJ; ... Ketogenic Dietitians Research Network (KDRN); + view all Schoeler, NE; Simpson, Z; Whiteley, VJ; Nguyen, P; Meskell, R; Lightfoot, K; Martin-McGill, KJ; Olpin, S; Ivison, F; Ketogenic Dietitians Research Network (KDRN); - view fewer (2020) Biochemical assessment of patients following ketogenic diets for epilepsy: Current practice in the UK and Ireland. Epilepsia Open , 5 (1) pp. 73-79. 10.1002/epi4.12371.

Schoeler, NE; Simpson, Z; Zhou, R; Pujar, S; Eltze, C; Cross, JH; (2021) Dietary Management of Children With Super-Refractory Status Epilepticus: A Systematic Review and Experience in a Single UK Tertiary Centre. Frontiers in Neurology , 12 , Article 643105. 10.3389/fneur.2021.643105.

Scholefield, BR; Menzies, JC; McAnuff, J; Thompson, JY; Manning, JC; Feltbower, RG; Geary, M; ... Rapley, T; + view all Scholefield, BR; Menzies, JC; McAnuff, J; Thompson, JY; Manning, JC; Feltbower, RG; Geary, M; Lockley, S; Morris, KP; Moore, D; Pathan, N; Kirkham, F; Forsyth, R; Rapley, T; - view fewer (2023) Implementing early rehabilitation and mobilisation for children in UK paediatric intensive care units: the PERMIT feasibility study. Health Technology Assessment , 27 (27) vii-129. 10.3310/HYRW5688.

Schulze, K; Vargha-Khadem, F; Mishkin, M; (2017) Phonological Working Memory and FOXP2. Neuropsychologia , 108 pp. 147-152. 10.1016/j.neuropsychologia.2017.11.027.

Schwaller, F; Beggs, S; Walker, SM; (2015) Targeting p38 Mitogen-activated Protein Kinase to Reduce the Impact of Neonatal Microglial Priming on Incision-induced Hyperalgesia in the Adult Rat. Anesthesiology , 122 pp. 1377-1390. 10.1097/ALN.0000000000000659.

Schwartz, C; Fischer, M; Mamchaoui, K; Bigot, A; Lok, T; Verdier, C; Duperray, A; ... Coirault, C; + view all Schwartz, C; Fischer, M; Mamchaoui, K; Bigot, A; Lok, T; Verdier, C; Duperray, A; Michel, R; Holt, I; Voit, T; Quijano-Roy, S; Bonne, G; Coirault, C; - view fewer (2017) Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1. Scientific Reports , 7 , Article 1253. 10.1038/s41598-017-01324-z.

Scoto, M; Finkel, R; Mercuri, E; Muntoni, F; (2018) Genetic therapies for inherited neuromuscular disorders. The Lancet Child & Adolescent Health , 2 (8) pp. 600-609. 10.1016/S2352-4642(18)30140-8.

Scoto, M; Finkel, RS; Mercuri, E; Muntoni, F; (2017) Therapeutic approaches for spinal muscular atrophy (SMA). Gene Therapy , 24 (9) pp. 514-519. 10.1038/gt.2017.45.

Scott, RC; (2016) Network science for the identification of novel therapeutic targets in epilepsy. F1000Res , 5 , Article 893. 10.12688/f1000research.8214.1.

Scott, RC; Tuchman, R; (2016) Epilepsy and autism spectrum disorders Relatively related. Neurology , 87 (2) pp. 130-131. 10.1212/WNL.0000000000002852.

Scotton, C; Bovolenta, M; Schwartz, E; Falzarano, MS; Martoni, E; Passarelli, C; Armaroli, A; ... Ferlini, A; + view all Scotton, C; Bovolenta, M; Schwartz, E; Falzarano, MS; Martoni, E; Passarelli, C; Armaroli, A; Osman, H; Rodolico, C; Messina, S; Pegoraro, E; D'Amico, A; Bertini, E; Gualandi, F; Neri, M; Selvatici, R; Boffi, P; Maioli, MA; Lochmüller, H; Straub, V; Bushby, K; Castrignanò, T; Pesole, G; Sabatelli, P; Merlini, L; Braghetta, P; Bonaldo, P; Bernardi, P; Foley, R; Cirak, S; Zaharieva, I; Muntoni, F; Capitanio, D; Gelfi, C; Kotelnikova, E; Yuryev, A; Lebowitz, M; Zhang, X; Hodge, BA; Esser, KA; Ferlini, A; - view fewer (2016) Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. Journal of Cell Science , 129 (8) pp. 1671-1684. 10.1242/jcs.175927.

Selby, NM; Blankestijn, PJ; Boor, P; Combe, C; Eckardt, K-U; Eikefjord, E; Garcia-Fernandez, N; ... Sourbron, S; + view all Selby, NM; Blankestijn, PJ; Boor, P; Combe, C; Eckardt, K-U; Eikefjord, E; Garcia-Fernandez, N; Golay, X; Gordon, I; Grenier, N; Hockings, PD; Jensen, JD; Joles, JA; Kalra, PA; Krämer, BK; Mark, PB; Mendichovszky, IA; Nikolic, O; Odudu, A; Ong, ACM; Ortiz, A; Pruijm, M; Remuzzi, G; Rørvik, J; de Seigneux, S; Simms, RJ; Slatinska, J; Summers, P; Taal, MW; Thoeny, HC; Vallée, J-P; Wolf, M; Caroli, A; Sourbron, S; - view fewer (2018) Magnetic resonance imaging biomarkers for chronic kidney disease: a position paper from the European Cooperation in Science and Technology Action PARENCHIMA. Nephrology Dialysis Transplantation , 33 (suppl_2) ii4-ii14. 10.1093/ndt/gfy152.

Sen, A; Hallab, A; Cross, JH; Sander, JW; Newton, CR; (2021) Optimising epilepsy care throughout the Afghan refugee crisis. The Lancet , 398 (10311) p. 1563. 10.1016/S0140-6736(21)02224-8.

Sergott, RC; Amorelli, GM; Baranello, G; Barreau, E; Beres, S; Kane, S; Mercuri, E; ... Marzoli, SB; + view all Sergott, RC; Amorelli, GM; Baranello, G; Barreau, E; Beres, S; Kane, S; Mercuri, E; Orazi, L; SantaMaria, M; Tremolada, G; Santarsiero, D; Waskowska, A; Yashiro, S; Denk, N; Furst-Recktenwald, S; Gerber, M; Gorni, K; Jaber, B; Jacobsen, B; Mueller, L; Nave, S; Scalco, RS; Marzoli, SB; - view fewer (2021) Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Annals of Clinical and Translational Neurology , 8 (1) pp. 54-65. 10.1002/acn3.51239.

Servais, L; Baranello, G; Scoto, M; Daron, A; Oskoui, M; (2021) Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities. Expert Opinion on Investigational Drugs , 30 (5) pp. 519-527. 10.1080/13543784.2021.1904889.

Servais, L; Mercuri, E; Straub, V; Guglieri, M; Seferian, AM; Scoto, M; Leone, D; ... SKIP-NMD Study Group, .; + view all Servais, L; Mercuri, E; Straub, V; Guglieri, M; Seferian, AM; Scoto, M; Leone, D; Koenig, E; Khan, N; Dugar, A; Wang, X; Han, B; Wang, D; Muntoni, F; SKIP-NMD Study Group, .; - view fewer (2021) Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic Acid Therapeutics 10.1089/nat.2021.0043. (In press).

Servais, Laurent; Day, John W; De Vivo, Darryl C; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M; ... Finkel, Richard S; + view all Servais, Laurent; Day, John W; De Vivo, Darryl C; Kirschner, Janbernd; Mercuri, Eugenio; Muntoni, Francesco; Proud, Crystal M; Shieh, Perry B; Tizzano, Eduardo F; Quijano-Roy, Susana; Desguerre, Isabelle; Saito, Kayoko; Faulkner, Eric; Benguerba, Kamal M; Raju, Dheeraj; LaMarca, Nicole; Sun, Rui; Anderson, Frederick A; Finkel, Richard S; - view fewer (2024) Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases 10.3233/JND-230122. (In press).

Servais, L; Straathof, CSM; Schara, U; Klein, A; Leinonen, M; Hasham, S; Meier, T; ... SYROS and CINRG DNHS Investigators; + view all Servais, L; Straathof, CSM; Schara, U; Klein, A; Leinonen, M; Hasham, S; Meier, T; De Waele, L; Gordish-Dressman, H; McDonald, CM; Mayer, OH; Voit, T; Mercuri, E; Buyse, GM; SYROS and CINRG DNHS Investigators; - view fewer (2020) Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy. Neuromuscular Disorders , 30 (1) pp. 5-16. 10.1016/j.nmd.2019.10.008.

Seunarine, KK; Clayden, JD; Jentschke, S; Muñoz, M; Cooper, JM; Chadwick, MJ; Banks, T; ... Clark, CA; + view all Seunarine, KK; Clayden, JD; Jentschke, S; Muñoz, M; Cooper, JM; Chadwick, MJ; Banks, T; Vargha-Khadem, F; Clark, CA; - view fewer (2016) Sexual Dimorphism in White Matter Developmental Trajectories Using Tract-Based Spatial Statistics. Brain Connectivity , 6 (1) pp. 37-47. 10.1089/brain.2015.0340.

Shafran, R; Bennett, S; Coughtrey, A; Welch, A; Walji, F; Cross, JH; Heyman, I; ... Moss-Morris, R; + view all Shafran, R; Bennett, S; Coughtrey, A; Welch, A; Walji, F; Cross, JH; Heyman, I; Sibelli, A; Smith, J; Ross, J; Dalrymple, E; Varadkar, S; MICE Research Study Team; Moss-Morris, R; - view fewer (2020) Optimising Evidence-Based Psychological Treatment for the Mental Health Needs of Children with Epilepsy: Principles and Methods. Clinical Child and Family Psychology Review 10.1007/s10567-019-00310-3. (In press).

Shamshiri, EA; (2017) Understanding haemodynamic changes surrounding epileptic events in children. Doctoral thesis , UCL (University College London).

Shamshiri, EA; Tierney, TM; Centeno, M; St Pier, K; Pressler, RM; Sharp, DJ; Perani, S; ... Carmichael, DW; + view all Shamshiri, EA; Tierney, TM; Centeno, M; St Pier, K; Pressler, RM; Sharp, DJ; Perani, S; Cross, JH; Carmichael, DW; - view fewer (2017) Interictal activity is an important contributor to abnormal intrinsic network connectivity in paediatric focal epilepsy. Human Brain Mapping , 38 (1) pp. 221-236. 10.1002/hbm.23356.

Sharp, SI; Lange, J; Kandaswamy, R; Daher, M; Anjorin, A; Bass, NJ; McQuillin, A; (2017) Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar affective disorder. Psychiatric Genetics , 27 (3) pp. 81-88. 10.1097/YPG.0000000000000166.

Shell, RD; McGrattan, KE; Hurst-Davis, R; Young, SD; Baranello, G; Lavrov, A; O'Brien, E; ... Darras, BT; + view all Shell, RD; McGrattan, KE; Hurst-Davis, R; Young, SD; Baranello, G; Lavrov, A; O'Brien, E; Wallach, S; LaMarca, N; Reyna, SP; Darras, BT; - view fewer (2023) Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial. Neuromuscular Disorders 10.1016/j.nmd.2023.06.005. (In press).

Shelmerdine, SC; Arthurs, OJ; Denniston, A; Sebire, NJ; (2021) Review of study reporting guidelines for clinical studies using artificial intelligence in healthcare. BMJ Health & Care Informatics , 28 (1) , Article e100385. 10.1136/bmjhci-2021-100385.

Shelmerdine, SC; Hutchinson, JC; Arthurs, OJ; Sebire, NJ; (2020) Latest Developments in Post-Mortem Fetal Imaging. Prenatal Diagnosis , 40 (1) pp. 28-37. 10.1002/pd.5562.

Shelmerdine, SC; Sebire, NJ; Arthurs, OJ; (2021) Three-dimensional versus two-dimensional postmortem ultrasound: feasibility in perinatal death investigation. Pediatric Radiology , 51 (7) pp. 1259-1266. 10.1007/s00247-020-04934-4.

Shelmerdine, SC; Sebire, NJ; Calder, AD; Arthurs, OJ; (2021) 3D cinematic rendering of fetal skeletal dysplasias using postmortem computed tomography. Ultrasound in Obstetrics & Gynecology , 57 (4) pp. 659-660. 10.1002/uog.23140.

Shelmerdine, Susan C; Arthurs, Owen J; (2024) How to report perinatal and paediatric postmortem CT. Insights into Imaging , 15 , Article 129. 10.1186/s13244-024-01698-5.

Shelmerdine, Susan C; Arthurs, Owen J; (2023) Post-mortem perinatal imaging: what is the evidence? British Journal of Radiology , 96 (1147) , Article 20211078. 10.1259/bjr.20211078.

Shelmerdine, Susan C; White, Richard D; Liu, Hantao; Arthurs, Owen J; Sebire, Neil J; (2022) Artificial intelligence for radiological paediatric fracture assessment: a systematic review. Insights into Imaging , 13 , Article 94. 10.1186/s13244-022-01234-3.

Shelmerdine, S; Langan, D; Sebire, NJ; Arthurs, O; (2019) Diagnostic accuracy of perinatal post-mortem ultrasound (PMUS): a systematic review. BMJ Paediatr Open , 3 (1) , Article e000566. 10.1136/bmjpo-2019-000566.

Shelmerdine, SC; Arthurs, OJ; (2017) Reply regarding 'Presentation to publication: institutional and individual factors'. Pediatric Radiology , 47 (2) pp. 247-248. 10.1007/s00247-016-3744-2.

Shelmerdine, SC; Arthurs, OJ; Gilpin, I; Norman, W; Jones, R; Taylor, AM; Sebire, NJ; Shelmerdine, SC; Arthurs, OJ; Gilpin, I; Norman, W; Jones, R; Taylor, AM; Sebire, NJ; Chitty, LS; - view fewer (2019) Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI? Prenatal Diagnosis , 39 (9) pp. 818-829. 10.1002/pd.5448.

Shelmerdine, SC; Ashworth, MT; Calder, AD; Muthialu, N; Arthurs, OJ; (2019) Micro-CT of tracheal stenosis in trisomy 21. Thorax , 74 (4) pp. 419-420. 10.1136/thoraxjnl-2018-212966.

Shelmerdine, SC; Chung, KL; Hutchinson, JC; Elliott, C; Sebire, NJ; Arthurs, OJ; (2019) Feasibility of Postmortem Imaging Assessment of Brain: Liver Volume Ratios with Pathological Validation. Fetal Diagnosis and Therapy 10.1159/000497158. (In press).

Shelmerdine, SC; Davendralingam, N; Palm, L; Minden, T; Cary, N; Sebire, NJ; Arthurs, OJ; (2019) Diagnostic Accuracy of Postmortem CT of Children: A Retrospective Single-Center Study. American Journal of Roentgenology , 212 (6) pp. 1335-1347. 10.2214/AJR.18.20534.

Shelmerdine, SC; Gerrard, CY; Rao, P; Lynch, M; Kroll, J; Martin, D; Miller, E; ... Arthurs, OJ; + view all Shelmerdine, SC; Gerrard, CY; Rao, P; Lynch, M; Kroll, J; Martin, D; Miller, E; Filograna, L; Martinez, RM; Ukpo, O; Daly, B; Hyodoh, H; Johnson, K; Watt, A; Taranath, A; Brown, S; Perry, D; Boel, LWT; Borowska-Solonynko, A; van Rijn, R; Klein, W; Whitby, E; Arthurs, OJ; - view fewer (2019) Joint European Society of Paediatric Radiology (ESPR) and International Society for Forensic Radiology and Imaging (ISFRI) guidelines: paediatric postmortem computed tomography imaging protocol. Pediatric Radiology 10.1007/s00247-018-04340-x. (In press).

Shelmerdine, SC; Hickson, M; Sebire, NJ; Arthurs, OJ; (2019) Post-Mortem Magnetic Resonance Imaging Appearances of Feticide in Perinatal Deaths. Fetal Diagnosis and Therapy , 45 (4) pp. 221-229. 10.1159/000488940.

Shelmerdine, SC; Hutchinson, JC; Al-Sarraj, S; Cary, N; Dawson, T; Plessis, DD; Ince, PG; ... International Society of Forensic Radiology and Imaging, .; + view all Shelmerdine, SC; Hutchinson, JC; Al-Sarraj, S; Cary, N; Dawson, T; Plessis, DD; Ince, PG; McLaughlin, S; Palm, L; Smith, C; Stoodley, N; van Rijn, R; Arthurs, OJ; Jacques, TS; British Neuropathological Society, .; International Society of Forensic Radiology and Imaging, .; - view fewer (2018) British Neuropathological Society and International Society of Forensic Radiology and Imaging expert consensus statement for post mortem neurological imaging. Neuropathology and Applied Neurobiology , 44 (7) pp. 663-672. 10.1111/nan.12482.

Shelmerdine, SC; Hutchinson, JC; Kang, X; Suich, JD; Ashworth, M; Cannie, MM; Segers, V; ... Arthurs, OJ; + view all Shelmerdine, SC; Hutchinson, JC; Kang, X; Suich, JD; Ashworth, M; Cannie, MM; Segers, V; Sebire, NJ; Jani, JC; Arthurs, OJ; - view fewer (2018) Novel usage of microfocus computed tomography (micro-CT) for visualisation of human embryonic development-Implications for future non-invasive post-mortem investigation. Prenatal Diagnosis , 38 (7) pp. 538-542. 10.1002/pd.5281.

Shelmerdine, SC; Hutchinson, JC; Lewis, C; Simcock, IC; Sekar, T; Sebire, NJ; Arthurs, OJ; (2021) A pragmatic evidence-based approach to post-mortem perinatal imaging. Insights Imaging , 12 (1) , Article 101. 10.1186/s13244-021-01042-1.

Shelmerdine, SC; Hutchinson, JC; Sebire, NJ; Jacques, TS; Arthurs, OJ; (2017) Post-mortem magnetic resonance (PMMR) imaging of the brain in fetuses and children with histopathological correlation. Clinical Radiology , 72 (12) pp. 1025-1037. 10.1016/j.crad.2017.07.015.

Shelmerdine, SC; Hutchinson, JC; Ward, L; Sekar, T; Ashworth, MT; Levine, S; Sebire, NJ; Shelmerdine, SC; Hutchinson, JC; Ward, L; Sekar, T; Ashworth, MT; Levine, S; Sebire, NJ; Arthurs, OJ; - view fewer (2020) INTACT (INcision‐less TArgeted Core Tissue) biopsy procedure for perinatal autopsy: initial feasibility. Ultrasound in Obstetrics & Gynecology , 55 (5) pp. 667-675. 10.1002/uog.20387.

Shelmerdine, SC; Klein, W; Arthurs, OJ; (2019) Neonatal Autopsy: A 21st Century Approach? [Letter]. Neonatology , 115 (3) pp. 275-276. 10.1159/000495912.

Shelmerdine, SC; Langan, D; Hutchinson, JC; Hickson, M; Pawley, K; Suich, J; Palm, L; ... DRIFT Study Research group; + view all Shelmerdine, SC; Langan, D; Hutchinson, JC; Hickson, M; Pawley, K; Suich, J; Palm, L; Sebire, NJ; Wade, A; Arthurs, OJ; DRIFT Study Research group; - view fewer (2018) Chest radiographs versus CT for the detection of rib fractures in children (DRIFT): a diagnostic accuracy observational study. The Lancet Child & Adolescent Health , 2 (11) pp. 802-811. 10.1016/S2352-4642(18)30274-8.

Shelmerdine, SC; Langan, D; Mandalia, U; Sebire, NJ; Arthurs, OJ; (2019) Maceration determines diagnostic yield of fetal and neonatal whole body post‐mortem ultrasound. Prenatal Diagnosis 10.1002/pd.5615. (In press).

Shelmerdine, SC; Lynch, JO; Langan, D; Arthurs, OJ; (2016) Presentation to publication: proportion of abstracts published for ESPR, SPR and IPR. Pediatric Radiology , 46 (10) pp. 1371-1377. 10.1007/s00247-016-3653-4.

Shelmerdine, SC; Main, C; Hutchinson, JC; Langan, D; Sebire, NJ; Arthurs, OJ; (2018) The use of whole body diffusion-weighted post-mortem magnetic resonance imaging in timing of perinatal deaths. International Journal of Legal Medicine 10.1007/s00414-018-1906-5.

Shelmerdine, SC; Sebire, NJ; Arthurs, OJ; (2020) Diagnostic accuracy of postmortem ultrasound vs 1.5T postmortem MRI for non-invasive perinatal autopsies. Ultrasound in Obstetrics & Gynecology , 57 (3) pp. 449-458. 10.1002/uog.22012.

Shelmerdine, SC; Sebire, NJ; Arthurs, OJ; (2019) Perinatal post mortem ultrasound (PMUS): a practical approach. Insights Imaging , 10 (1) , Article 35. 10.1186/s13244-019-0723-9.

Shelmerdine, SC; Sebire, NJ; Arthurs, OJ; (2019) Perinatal post-mortem ultrasound (PMUS): radiological-pathological correlation. Insights Imaging , 10 , Article 81. 10.1186/s13244-019-0762-2.

Shelmerdine, SC; Simcock, IC; Ciaran Hutchinson, J; Guy, A; Ashworth, MT; Sebire, NJ; Arthurs, OJ; (2020) Post-mortem micro-CT for non-invasive autopsies: Experience in > 250 human fetuses. American Journal of Obstetrics and Gynecology 10.1016/j.ajog.2020.07.019. (In press).

Shelmerdine, SC; Simcock, IC; Hutchinson, JC; Aughwane, R; Melbourne, A; Nikitichev, DI; Ong, J-L; ... Arthurs, OJ; + view all Shelmerdine, SC; Simcock, IC; Hutchinson, JC; Aughwane, R; Melbourne, A; Nikitichev, DI; Ong, J-L; Borghi, A; Cole, G; Kingham, E; Calder, AD; Capelli, C; Akhtar, A; Cook, AC; Schievano, S; David, A; Ourselin, S; Sebire, NJ; Arthurs, OJ; - view fewer (2018) 3D printing from microfocus computed tomography (micro-CT) in human specimens: education and future implications. British Journal of Radiology , 91 (1088) , Article 20180306. 10.1259/bjr.20180306.

Shelmerdine, SC; Singh, M; Norman, W; Jones, R; Sebire, NJ; Arthurs, OJ; (2019) Automated data extraction and report analysis in computer-aided radiology audit: practice implications from post-mortem paediatric imaging. Clinical Radiology , 74 (9) 733.e11-733.e18. 10.1016/j.crad.2019.04.021.

Shelmerdine, SC; Singh, M; Simcock, I; Calder, AD; Ashworth, M; Beleza, A; Sebire, NJ; Shelmerdine, SC; Singh, M; Simcock, I; Calder, AD; Ashworth, M; Beleza, A; Sebire, NJ; Arthurs, OJ; - view fewer (2019) Characterization of Bardet–Biedl syndrome by postmortem microfocus computed tomography (micro‐CT). [Letter]. Ultrasound in Obstetrics & Gynecology , 53 (1) pp. 132-134. 10.1002/uog.19190.

Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Bertini, Enrico; Tian, Cuixia; Mah, Jean K; ... Marraffino, Shannon; + view all Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Bertini, Enrico; Tian, Cuixia; Mah, Jean K; Kostera-Pruszczyk, Anna; Muntoni, Francesco; Guglieri, Michela; Brandsema, John F; Mercuri, Eugenio; Butterfield, Russell J; McDonald, Craig M; Charnas, Lawrence; Marraffino, Shannon; - view fewer (2022) Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. Journal of Neurology 10.1007/s00415-022-11084-0. (In press).

Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Tian, Cuixia; Mah, Jean K; Muntoni, Francesco; ... Marraffino, Shannon; + view all Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Tian, Cuixia; Mah, Jean K; Muntoni, Francesco; Guglieri, Michela; Butterfield, Russell J; Charnas, Lawrence; Marraffino, Shannon; - view fewer (2022) Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy. Scientific Reports , 12 (1) , Article 18762. 10.1038/s41598-022-23072-5.

Shieh, Perry B; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Seferian, Andreea M; Servais, Laurent; ... Rico, Salvador; + view all Shieh, Perry B; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Seferian, Andreea M; Servais, Laurent; Smith, Barbara K; Muntoni, Francesco; Blaschek, Astrid; Foley, A Reghan; Saade, Dimah N; Neuhaus, Sarah; Alfano, Lindsay N; Beggs, Alan H; Buj-Bello, Ana; Childers, Martin K; Duong, Tina; Graham, Robert J; Jain, Minal; Coats, Julie; MacBean, Vicky; James, Emma S; Lee, Jun; Mavilio, Fulvio; Miller, Weston; Varfaj, Fatbardha; Murtagh, Michael; Han, Cong; Noursalehi, Mojtaba; Lawlor, Michael W; Prasad, Suyash; Rico, Salvador; - view fewer (2023) Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. The Lancet Neurology , 22 (12) pp. 1125-1139. 10.1016/S1474-4422(23)00313-7.

Shirley, Meghan; Arthurs, Owen; Seunarine, K; Cole, Tim; Eaton, Simon; Williams, J; Clark, Chris; Shirley, Meghan; Arthurs, Owen; Seunarine, K; Cole, Tim; Eaton, Simon; Williams, J; Clark, Chris; Wells, JCK; - view fewer (2022) Implications of leg length for metabolic health and fitness. Evolution Medicine and Public Health , 10 (1) pp. 316-324. 10.1093/emph/eoac023.

Shirley, MK; Cole, TJ; Arthurs, OJ; Clark, CA; Wells, JCK; (2020) Developmental origins of variability in pelvic dimensions: Evidence from nulliparous South Asian women in the United Kingdom. American Journal of Human Biology , 32 (2) , Article e23340. 10.1002/ajhb.23340.

Shirley, M; Arthurs, O; Seunarine, K; Cole, T; Eaton, SJ; Williams, J; Clark, C; Shirley, M; Arthurs, O; Seunarine, K; Cole, T; Eaton, SJ; Williams, J; Clark, C; Wells, J; - view fewer (2019) Metabolic rate of major organs and tissues in young adult South Asian women. European Journal of Clinical Nutrition , 73 pp. 1164-1171. 10.1038/s41430-018-0362-0.

Shmueli, K; Kawadler, J; Carmichael, D; Clark, CA; Kirkham, FJ; (2015) Susceptibility Mapping in Sickle Cell Anaemia Patients with and Without Chronic Blood Transfusions. In: Proc. Intl. Soc. Mag. Reson. Med. 23 (2015). ISMRM

Sidlauskaite, E; Gibson, JW; Megson, IL; Whitfield, PD; Tovmasyan, A; Batinic-Haberle, I; Murphy, MP; ... Cobley, JN; + view all Sidlauskaite, E; Gibson, JW; Megson, IL; Whitfield, PD; Tovmasyan, A; Batinic-Haberle, I; Murphy, MP; Moult, PR; Cobley, JN; - view fewer (2018) Mitochondrial ROS cause motor deficits induced by synaptic inactivity: Implications for synapse pruning. Redox Biology , 16 pp. 344-351. 10.1016/j.redox.2018.03.012.

Sidlauskaite, E; Le Gall, L; Mariot, V; Dumonceaux, J; (2020) DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation. Journal of Personalized Medicine , 10 (3) , Article 73. 10.3390/jpm10030073.

Signorelli, M; Ayoglu, B; Johansson, C; Lochmüller, H; Straub, V; Muntoni, F; Niks, E; ... Spitali, P; + view all Signorelli, M; Ayoglu, B; Johansson, C; Lochmüller, H; Straub, V; Muntoni, F; Niks, E; Tsonaka, R; Persson, A; Aartsma-Rus, A; Nilsson, P; Al-Khalili Szigyarto, C; Spitali, P; - view fewer (2019) Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12517. (In press).

Silva, AHD; Habermann, S; Craven, CL; Bhagawati, D; O’Hare, P; Jorgensen, M; Dahl, C; ... Aquilina, K; + view all Silva, AHD; Habermann, S; Craven, CL; Bhagawati, D; O’Hare, P; Jorgensen, M; Dahl, C; Mankad, K; Thompson, DNP; Hargrave, D; Jeelani, NUO; Aquilina, K; - view fewer (2023) Atypical teratoid rhabdoid tumours (ATRTs)—a 21-year institutional experience. Child's Nervous System , 39 pp. 1509-1518. 10.1007/s00381-023-05828-0.

Silveira-Moriyama, L; Kovac, S; Kurian, MA; Houlden, H; Lees, AJ; Walker, MC; Roze, E; ... Warner, TT; + view all Silveira-Moriyama, L; Kovac, S; Kurian, MA; Houlden, H; Lees, AJ; Walker, MC; Roze, E; Paciorkowski, AR; Mink, JW; Warner, TT; - view fewer (2018) Phenotypes, genotypes, and the management of paroxysmal movement disorders. Development Medicine and Child Neurology , 60 (6) pp. 559-565. 10.1111/dmcn.13744.

Silwal, A; Pitt, M; Phadke, R; Mankad, K; Davison, JE; Rossor, A; DeVile, C; ... Munot, P; + view all Silwal, A; Pitt, M; Phadke, R; Mankad, K; Davison, JE; Rossor, A; DeVile, C; Reilly, MM; Manzur, AY; Muntoni, F; Munot, P; - view fewer (2018) Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy. Neuromuscular Disorders , 28 (9) pp. 757-765. 10.1016/j.nmd.2018.06.001.

Silwal, A; Sarkozy, A; Scoto, M; Ridout, D; Schmidt, A; Laverty, A; Henriques, M; ... Muntoni, F; + view all Silwal, A; Sarkozy, A; Scoto, M; Ridout, D; Schmidt, A; Laverty, A; Henriques, M; D'Argenzio, L; Main, M; Mein, R; Manzur, AY; Abel, F; Al-Ghamdi, F; Genetti, CA; Ardicli, D; Haliloglu, G; Topaloglu, H; Beggs, AH; Muntoni, F; - view fewer (2020) Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials. Annals of Clinical and Translational Neurology , 7 (11) pp. 2288-2296. 10.1002/acn3.51218.

Simcock, Ian C; Shelmerdine, Susan C; Hutchinson, John Ciaran; Sebire, Neil J; Arthurs, Owen J; (2023) Body weight-based iodinated contrast immersion timing for human fetal postmortem microfocus computed tomography. BJR|Open , 6 (1) , Article tzad006. 10.1093/bjro/tzad006.

Simcock, IC; Reeve, R; Burnett, C; Costigan, C; McNair, H; Robinson, C; Arthurs, OJ; (2021) Clinical academic radiographers – A challenging but rewarding career. Radiography , 27 (S1) S14-S19. 10.1016/j.radi.2021.06.008.

Simcock, IC; Shelmerdine, SC; Hutchinson, JC; Sebire, NJ; Arthurs, OJ; (2021) Human fetal whole-body postmortem microfocus computed tomographic imaging. Nature Protocols , 16 (5) pp. 2594-2614. 10.1038/s41596-021-00512-6.

Simcock, IC; Hutchinson, JC; Shelmerdine, SC; Matos, JN; Sebire, NJ; Fuentes, VL; Arthurs, OJ; (2020) Investigation of optimal sample preparation conditions with potassium triiodide and optimal imaging settings for microfocus computed tomography of excised cat hearts. American Journal of Veterinary Research , 81 (4) pp. 326-333. 10.2460/ajvr.81.4.326.

Simcock, IC; Shelmerdine, SC; Langan, D; Anna, G; Sebire, NJ; Arthurs, OJ; (2021) Micro-CT yields high image quality in human fetal post-mortem imaging despite maceration. BMC Medical Imaging , 21 (1) , Article 128. 10.1186/s12880-021-00658-5.

Simons, Laura; Moayedi, Massieh; Coghill, Robert C; Stinson, Jennifer; Angst, Martin S; Aghaeepour, Nima; Gaudilliere, Brice; ... Heirich, Marissa; + view all Simons, Laura; Moayedi, Massieh; Coghill, Robert C; Stinson, Jennifer; Angst, Martin S; Aghaeepour, Nima; Gaudilliere, Brice; King, Christopher D; López-Solà, Marina; Hoeppli, Marie-Eve; Biggs, Emma; Ganio, Ed; Williams, Sara E; Goldschneider, Kenneth R; Campbell, Fiona; Ruskin, Danielle; Krane, Elliot J; Walker, Suellen; Rush, Gillian; Heirich, Marissa; - view fewer (2022) Signature for Pain Recovery IN Teens (SPRINT): protocol for a multisite prospective signature study in chronic musculoskeletal pain. BMJ Open , 12 (6) , Article e061548. 10.1136/bmjopen-2022-061548.

Sintusek, P; Catapano, F; Angkathunkayul, N; Marrosu, E; Parson, SH; Morgan, JE; Muntoni, F; Sintusek, P; Catapano, F; Angkathunkayul, N; Marrosu, E; Parson, SH; Morgan, JE; Muntoni, F; Zhou, H; - view fewer (2016) Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment. PLOS One , 11 (5) , Article e0155032. 10.1371/journal.pone.0155032.

Sisodiya, SM; Gulcebi, MI; Fortunato, F; Mills, JD; Haynes, E; Bramon, E; Chadwick, P; ... Hanna, MG; + view all Sisodiya, SM; Gulcebi, MI; Fortunato, F; Mills, JD; Haynes, E; Bramon, E; Chadwick, P; Ciccarelli, O; David, AS; De Meyer, K; Fox, NC; Davan Wetton, J; Koltzenburg, M; Kullmann, DM; Kurian, MA; Manji, H; Maslin, MA; Matharu, M; Montgomery, H; Romanello, M; Werring, DJ; Zhang, L; Friston, KJ; Hanna, MG; - view fewer (2024) Climate change and disorders of the nervous system. The Lancet Neurology , 23 (6) pp. 636-648. 10.1016/S1474-4422(24)00087-5.

Skirrow, C; Cross, JH; Owens, R; Weiss-Croft, L; Martin-Sanfilippo, P; Banks, T; Shah, E; ... Baldeweg, T; + view all Skirrow, C; Cross, JH; Owens, R; Weiss-Croft, L; Martin-Sanfilippo, P; Banks, T; Shah, E; Harkness, W; Vargha-Khadem, F; Baldeweg, T; - view fewer (2019) Determinants of IQ outcome after focal epilepsy surgery in childhood: A longitudinal case-control neuroimaging study. Epilepsia , 60 (5) pp. 872-884. 10.1111/epi.14707.

Slater, R; Walker, S; Eccleston, C; Bellieni, C; Hirekodi, T; Carbajal, R; Smart, L; ... Friedrichsdorf, S; + view all Slater, R; Walker, S; Eccleston, C; Bellieni, C; Hirekodi, T; Carbajal, R; Smart, L; Laughey, W; Cobo, MM; Friedrichsdorf, S; - view fewer (2025) Moments that matter: childhood pain treatment shapes pain for life—we can do better every time in every child. BMC Medicine , 23 , Article 64. 10.1186/s12916-025-03869-7.

Slatter, MA; Rao, K; Abd Hamid, IJ; Nademi, Z; Chiesa, R; Elfeky, R; Pearce, MS; ... Veys, P; + view all Slatter, MA; Rao, K; Abd Hamid, IJ; Nademi, Z; Chiesa, R; Elfeky, R; Pearce, MS; Amrolia, P; Worth, A; Flood, T; Abinun, M; Hambleton, S; Qasim, W; Gaspar, HB; Cant, AJ; Gennery, AR; Veys, P; - view fewer (2018) Treosulfan, Fludarabine Conditioning for HSCT in Children with Primary Immunodeficiency: UK Experience. Biology of Blood and Marrow Transplantation , 24 (3) pp. 529-536. 10.1016/j.bbmt.2017.11.009.

Slee, A; Stotesbury, H; Kawadler, J; Koelbel, M; Chakravorty, S; Pelidis, M; Thein, SL; ... Kirkham, F; + view all Slee, A; Stotesbury, H; Kawadler, J; Koelbel, M; Chakravorty, S; Pelidis, M; Thein, SL; Howard, J; Rees, D; Sahota, S; Sarkaria, S; Nwosu, C; Saunders, D; Gavlak, J; Gupta, A; Liossi, C; Kirkham, F; - view fewer (2018) Prevention of Morbidity in Sickle Cell Disease Phase 2 (POMS 2b pediatric): Improvement of Cognition in children with Sickle Cell Disease with Auto-adjusting Continuous Positive Airways Pressure: a single-blind, randomized, controlled phase II trial. Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK.

Smith, KS; Bihannic, L; Gudenas, BL; Haldipur, P; Tao, R; Gao, Q; Li, Y; ... Northcott, PA; + view all Smith, KS; Bihannic, L; Gudenas, BL; Haldipur, P; Tao, R; Gao, Q; Li, Y; Aldinger, KA; Iskusnykh, IY; Chizhikov, VV; Scoggins, M; Zhang, S; Edwards, A; Deng, M; Glass, IA; Overman, LM; Millman, J; Sjoboen, AH; Hadley, J; Golser, J; Mankad, K; Sheppard, H; Onar-Thomas, A; Gajjar, A; Robinson, GW; Hovestadt, V; Orr, BA; Patay, Z; Millen, KJ; Northcott, PA; - view fewer (2022) Unified rhombic lip origins of group 3 and group 4 medulloblastoma. Nature , 609 (7929) pp. 1012-1020. 10.1038/s41586-022-05208-9.

Smith, C; Kawadler, J; Kirkham, F; Hogan, A; Telfer, P; Stotesbury, H; (2018) Residential proximity to major roads and cognitive function in asymptomatic children with Sickle Cell Anaemia: a longitudinal study. Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK.

Smith, C; Shelmerdine, S; Arthurs, O; Baskaran, I; Sebire, N; Mohamedally, D; (2019) HoloLens for medical imaging using post-mortem fetal micro-CT data. In: Proceedings of the European Society of Radiology, ECR 2019. European Society of Radiology, ECR 2019

Smith, M; Kurian, MA; (2016) The medical management of cerebral palsy. Paediatrics and Child Health , 26 (9) pp. 378-382. 10.1016/j.paed.2016.04.013.

Smith, Martin; Kurian, Manju; (2018) Neurological gait disorders in childhood. [Review]. Paediatrics and Child Health , 28 (10) pp. 454-458. 10.1016/j.paed.2018.07.006.

Sogbodjor, Lisa A; Singleton, Georgina; Davenport, Mark; Walker, Suellen; Moonesinghe, S Ramani; (2022) Quality metrics for emergency abdominal surgery in children: a systematic review. British Journal of Anaesthesia , 128 (3) pp. 522-534. 10.1016/j.bja.2021.10.045.

Solomou, G; Murphy, S; Bandyopadhyay, S; Horsfall, HL; Mohan, M; Chari, A; Sinha, S; Solomou, G; Murphy, S; Bandyopadhyay, S; Horsfall, HL; Mohan, M; Chari, A; Sinha, S; Mendoza, N; - view fewer (2020) Neurosurgery specialty training in the UK: What you need to know to be shortlisted for an interview. Annals of Medicine and Surgery , 57 pp. 287-290. 10.1016/j.amsu.2020.07.047.

Soo, AKS; Ferrini, A; Kurian, MA; (2021) Precision medicine for genetic childhood movement disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.14869. (In press).

Sorger, Clarissa; (2023) Exploring Structural Brain Differences in Adolescents with Chronic Neuropathic Pain. Doctoral thesis (Ph.D), UCL (University College London).

Soul, JS; Pressler, R; Allen, M; Boylan, G; Rabe, H; Portman, R; Hardy, P; ... International Neonatal Consortium, .; + view all Soul, JS; Pressler, R; Allen, M; Boylan, G; Rabe, H; Portman, R; Hardy, P; Zohar, S; Romero, K; Tseng, B; Bhatt-Mehta, V; Hahn, C; Denne, S; Auvin, S; Vinks, A; Lantos, J; Marlow, N; Davis, JM; International Neonatal Consortium, .; - view fewer (2019) Recommendations for the design of therapeutic trials for neonatal seizures. Pediatr Research 10.1038/s41390-018-0242-2. (In press).

Sourbron, Jo; Auvin, Stéphane; Arzimanoglou, Alexis; Cross, J Helen; Hartmann, Hans; Pressler, Ronit; Riney, Kate; ... Lagae, Lieven; + view all Sourbron, Jo; Auvin, Stéphane; Arzimanoglou, Alexis; Cross, J Helen; Hartmann, Hans; Pressler, Ronit; Riney, Kate; Sugai, Kenji; Wilmshurst, Jo M; Yozawitz, Elissa; Lagae, Lieven; - view fewer (2022) Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications Survey Report of ILAE Task Force Medical Therapies in Children. Epilepsia Open 10.1002/epi4.12666. (In press).

Spaull, R; Hogarth, P; Hayflick, S; Kurian, MA; (2022) Development of a UK phase-2 clinical trial of 4'-phosphopantetheine for pantothenate kinase associated neurodegeneration. Presented at: British Paediatric Neurology Association 2022 Annual Meeting, Dublin, Ireland (Virtual conference).

Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; ... Kurian, Manju A; + view all Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A; - view fewer (2024) Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy. Neurology , 103 (3) , Article e209615. 10.1212/WNL.0000000000209615.

Spaull, Robert; Steel, Dora; Barwick, Katy; Prabhakar, Prab; Wakeling, Emma; Kurian, Manju A; (2022) STXBP1 stop‐loss mutation associated with complex early onset movement disorder without epilepsy. Movement Disorders Clinical Practice 10.1002/mdc3.13509. (In press).

Spaull, RVV; Soo, AKS; Hogarth, P; Hayflick, SJ; Kurian, MA; (2021) Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation. Tremor and Other Hyperkinetic Movements , 11 (1) , Article 51. 10.5334/tohm.661.

Spaull, R; McPherson, B; Gialeli, A; Clayton, A; Uney, J; Heep, A; Cordero-Llana, Ó; (2019) Exosomes populate the cerebrospinal fluid of preterm infants with post-haemorrhagic hydrocephalus. International Journal of Developmental Neuroscience , 73 (1) pp. 59-65. 10.1016/j.ijdevneu.2019.01.004.

Specchio, N; Pietrafusa, N; Perucca, E; Cross, JH; (2021) New paradigms for the treatment of pediatric monogenic epilepsies: Progressing toward precision medicine. Epilepsy & Behavior , 131 , Article 107961. 10.1016/j.yebeh.2021.107961.

Specchio, Nicola; Wirrell, Elaine C; Scheffer, Ingrid E; Nabbout, Rima; Riney, Kate; Samia, Pauline; Guerreiro, Marilisa; ... Auvin, Stéphane; + view all Specchio, Nicola; Wirrell, Elaine C; Scheffer, Ingrid E; Nabbout, Rima; Riney, Kate; Samia, Pauline; Guerreiro, Marilisa; Gwer, Sam; Zuberi, Sameer M; Wilmshurst, Jo M; Yozawitz, Elissa; Pressler, Ronit; Hirsch, Edouard; Wiebe, Sam; Cross, Helen J; Perucca, Emilio; Moshé, Solomon L; Tinuper, Paolo; Auvin, Stéphane; - view fewer (2022) International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia 10.1111/epi.17241. (In press).

Spicer, C; Lu, C-H; Catapano, F; Scoto, M; Zaharieva, I; Malaspina, A; Morgan, JE; ... Zhou, H; + view all Spicer, C; Lu, C-H; Catapano, F; Scoto, M; Zaharieva, I; Malaspina, A; Morgan, JE; Greensmith, L; Muntoni, F; Zhou, H; - view fewer (2021) The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.51336. (In press).

Spitali, P; Hettne, K; Tsonaka, R; Charrout, M; van den Bergen, J; Koeks, Z; Kan, HE; ... Aartsma-Rus, A; + view all Spitali, P; Hettne, K; Tsonaka, R; Charrout, M; van den Bergen, J; Koeks, Z; Kan, HE; Hooijmans, MT; Roos, A; Straub, V; Muntoni, F; Al-Khalili-Szigyarto, C; Koel-Simmelink, MJA; Teunissen, CE; Lochmüller, H; Niks, EH; Aartsma-Rus, A; - view fewer (2018) Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies. Journal of Cachexia, Sarcopenia and Muscle , 9 (4) pp. 715-726. 10.1002/jcsm.12304.

Spitali, P; Zaharieva, I; Bohringer, S; Hiller, M; Chaouch, A; Roos, A; Scotton, C; ... Aartsma-Rus, A; + view all Spitali, P; Zaharieva, I; Bohringer, S; Hiller, M; Chaouch, A; Roos, A; Scotton, C; Claustres, M; Bello, L; McDonald, CM; Hoffman, EP; CINRG Investigators; Koeks, Z; Eka Suchiman, H; Cirak, S; Scoto, M; Reza, M; 't Hoen, PAC; Niks, EH; Tuffery-Giraud, S; Lochmüller, H; Ferlini, A; Muntoni, F; Aartsma-Rus, A; - view fewer (2020) TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. European Journal of Human Genetics 10.1038/s41431-019-0563-6. (In press).

Spitzer, Hannah; Ripart, Mathilde; Whitaker, Kirstie; D'Arco, Felice; Mankad, Kshitij; Chen, Andrew A; Napolitano, Antonio; ... Wagstyl, Konrad; + view all Spitzer, Hannah; Ripart, Mathilde; Whitaker, Kirstie; D'Arco, Felice; Mankad, Kshitij; Chen, Andrew A; Napolitano, Antonio; De Palma, Luca; De Benedictis, Alessandro; Foldes, Stephen; Humphreys, Zachary; Zhang, Kai; Hu, Wenhan; Mo, Jiajie; Likeman, Marcus; Davies, Shirin; Güttler, Christopher; Lenge, Matteo; Cohen, Nathan T; Tang, Yingying; Wang, Shan; Chari, Aswin; Tisdall, Martin; Bargallo, Nuria; Conde-Blanco, Estefanía; Pariente, Jose Carlos; Pascual-Diaz, Saül; Delgado-Martínez, Ignacio; Pérez-Enríquez, Carmen; Lagorio, Ilaria; Abela, Eugenio; Mullatti, Nandini; O'Muircheartaigh, Jonathan; Vecchiato, Katy; Liu, Yawu; Caligiuri, Maria Eugenia; Sinclair, Ben; Vivash, Lucy; Willard, Anna; Kandasamy, Jothy; McLellan, Ailsa; Sokol, Drahoslav; Semmelroch, Mira; Kloster, Ane G; Opheim, Giske; Ribeiro, Letícia; Yasuda, Clarissa; Rossi-Espagnet, Camilla; Hamandi, Khalid; Tietze, Anna; Barba, Carmen; Guerrini, Renzo; Gaillard, William Davis; You, Xiaozhen; Wang, Irene; González-Ortiz, Sofía; Severino, Mariasavina; Striano, Pasquale; Tortora, Domenico; Kälviäinen, Reetta; Gambardella, Antonio; Labate, Angelo; Desmond, Patricia; Lui, Elaine; O'Brien, Terence; Shetty, Jay; Jackson, Graeme; Duncan, John S; Winston, Gavin P; Pinborg, Lars H; Cendes, Fernando; Theis, Fabian J; Shinohara, Russell T; Cross, J Helen; Baldeweg, Torsten; Adler, Sophie; Wagstyl, Konrad; - view fewer (2022) Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. Brain , 145 (11) pp. 3859-3871. 10.1093/brain/awac224.

Sprute, R; Jergas, H; Ölmez, A; Alawbathani, S; Karasoy, H; Salimi Dafsari, H; Becker, K; ... Cirak, S; + view all Sprute, R; Jergas, H; Ölmez, A; Alawbathani, S; Karasoy, H; Salimi Dafsari, H; Becker, K; Daimagüeler, H-S; Nürnberg, P; Muntoni, F; Topaloglu, H; Uyanik, G; Cirak, S; - view fewer (2020) Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. American Journal of Medical Genetics Part A 10.1002/ajmg.a.61951. (In press).

Stacey, A; Toolis, C; Ganesan, V; (2018) Rates and Risk Factors for Arterial Ischemic Stroke Recurrence in Children. Stroke , 49 (4) pp. 842-847. 10.1161/STROKEAHA.117.020159.

Startin, CM; Fiorentini, C; de Haan, M; Skuse, DH; (2015) Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males. PLoS One , 10 (6) , Article e0131604. 10.1371/journal.pone.0131604.

Staunton, Hannah; Cleanthous, Sophie; Teodoro, Vanda; Barrett, Louise; Braid, Jessica; Ewens, Bethany; Cano, Stefan; ... Mayhew, Anna; + view all Staunton, Hannah; Cleanthous, Sophie; Teodoro, Vanda; Barrett, Louise; Braid, Jessica; Ewens, Bethany; Cano, Stefan; Baranello, Giovanni; Kirschner, Janbernd; Belter, Lisa; Mayhew, Anna; - view fewer (2023) A Mixed-method Approach to Develop an Ambulatory Module of the SMA Independence Scale. Journal of Neuromuscular Diseases , 10 (6) pp. 1093-1109. 10.3233/JND-230096.

Steel, D; Kurian, MA; (2020) Recent genetic advances in early-onset dystonia. Current Opinion in Neurology , 33 (4) pp. 500-507. 10.1097/WCO.0000000000000831.

Steel, DBD; Danti, FR; Abunada, M; Kamien, B; Malhotra, S; Topf, M; Kaliakatsos, M; ... Kurian, MA; + view all Steel, DBD; Danti, FR; Abunada, M; Kamien, B; Malhotra, S; Topf, M; Kaliakatsos, M; Valentine, J; Nemeth, AH; Jayawant, S; Reid, KM; Mankad, K; Sudhakar, S; Ben-Pazi, H; Barwick, K; Kurian, MA; - view fewer (2023) Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Neurology , 100 (21) e2214-e2223. 10.1212/WNL.0000000000207241.

Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M; Cross, J Helen; Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M; Cross, J Helen; Kurian, Manju A; - view fewer (2022) Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. Movement Disorders 10.1002/mds.29250. (In press).

Steel, Dora Batia Dyne; (2023) Whole-genome sequencing in early-onset movement disorders: diagnosis, discovery, and deepening understanding of rare conditions. Doctoral thesis (Ph.D), UCL (University College London).

Steel, D; Heim, J; Kruer, MC; Sanchis-Juan, A; Raymond, LF; Eunson, P; Kurian, MA; (2020) Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia. Movement Disorders , 35 (2) pp. 372-373. 10.1002/mds.27981.

Steel, D; Zech, M; Zhao, C; Barwick, KE; Burke, D; Demailly, D; Kumar, KR; ... Winkelmann, J; + view all Steel, D; Zech, M; Zhao, C; Barwick, KE; Burke, D; Demailly, D; Kumar, KR; Zorzi, G; Nardocci, N; Kaiyrzhanov, R; Wagner, M; Iuso, A; Berutti, R; Škorvánek, M; Necpál, J; Davis, R; Wiethoff, S; Mankad, K; Sudhakar, S; Ferrini, A; Sharma, S; Kamsteeg, E-J; Tijssen, MA; Verschuuren, C; van Egmond, ME; Flowers, JM; McEntagart, M; Tucci, A; Genomics England Research Consortium, .; Coubes, P; Bustos, BI; Gonzalez-Latapi, P; Tisch, S; Darveniza, P; Gorman, KM; Peall, KJ; Bötzel, K; Koch, JC; Kmieć, T; Plecko, B; Boesch, S; Haslinger, B; Jech, R; Garavaglia, B; Wood, N; Houlden, H; Gissen, P; Lubbe, SJ; Sue, CM; Cif, L; Mencacci, NE; Anderson, G; Kurian, MA; Winkelmann, J; - view fewer (2020) Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities. Annals of Neurology , 88 (5) pp. 867-877. 10.1002/ana.25879.

Stefani, Artemis; (2024) Executive Function through the first decade of life: the case of preterm birth. Doctoral thesis (Ph.D), UCL (University College London).

Steinlin, M; O'callaghan, F; Mackay, MT; (2017) Planning interventional trials in childhood arterial ischaemic stroke using a Delphi consensus process. Developmental Medicine and Child Neurology , 59 (7) pp. 713-718. 10.1111/dmcn.13393.

Stern, WM; Winston, JS; Murphy, E; Cross, JH; Sander, JW; (2017) Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy. Practical Neurology , 17 (3) pp. 207-211. 10.1136/practneurol-2016-001475.

Stevens, E; Torelli, S; Feng, L; Phadke, R; Walter, MC; Schneiderat, P; Eddaoudi, A; ... Muntoni, F; + view all Stevens, E; Torelli, S; Feng, L; Phadke, R; Walter, MC; Schneiderat, P; Eddaoudi, A; Sewry, CA; Muntoni, F; - view fewer (2013) Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS One , 8 (7) , Article e68958. 10.1371/journal.pone.0068958.

Stevens, ESL; (2014) An Investigation of Alpha-Dystroglycan Glycosylation in the Dystroglycanopathies: Implications for Diagnosis, Therapy and the Study of Novel Causative Genes. Doctoral thesis , UCL (University College London).

Stewart, J-AT; Willen, SM; Cohen, R; Rodeghier, M; Kirkham, F; Redline, SS; Rosen, C; ... DeBaun, MR; + view all Stewart, J-AT; Willen, SM; Cohen, R; Rodeghier, M; Kirkham, F; Redline, SS; Rosen, C; Kirkby, J; DeBaun, MR; - view fewer (2019) BMI percentile is an independent predictor of increase in lung function in children with sickle cell anemia. American Journal of Hematology , 94 (5) E136-E138. 10.1002/ajh.25433.

Stimpson, G; Chesshyre, M; Baranello, G; Muntoni, F; (2021) Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation. Frontiers in Genetics , 12 , Article 759994. 10.3389/fgene.2021.759994.

Stimpson, Georgia; (2024) Incorporating data insights and clinical knowledge in statistical methodologies: Modelling disease trajectories in children with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. Doctoral thesis (Ph.D), UCL (University College London).

Stimpson, Georgia; Ramsey, Danielle; Wolfe, Amy; Mayhew, Anna; Scoto, Mariacristina; Baranello, Giovanni; Muni Lofra, Robert; ... International SMA Consortium (iSMAc); + view all Stimpson, Georgia; Ramsey, Danielle; Wolfe, Amy; Mayhew, Anna; Scoto, Mariacristina; Baranello, Giovanni; Muni Lofra, Robert; Main, Marion; Milev, Evelin; Coratti, Giorgia; Pane, Marika; Sansone, Valeria; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Albamonte, Emilio; Mazzone, Elena Stacy; Montes, Jacqueline; Glanzman, Allan M; Zolkipli-Cunningham, Zarazuela; Pasternak, Amy; Duong, Tina; Dunaway Young, Sally; Civitello, Matthew; Marini-Bettolo, Chiara; Day, John W; Darras, Basil T; De Vivo, Darryl C; Finkel, Richard S; Mercuri, Eugenio; Muntoni, Francesco; International SMA Consortium (iSMAc); - view fewer (2023) 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of Clinical Medicine , 12 (5) , Article 1920. 10.3390/jcm12051920.

Stimpson, Georgia; Raquq, Sarah; Chesshyre, Mary; Fewtrell, Mary; Ridout, Deborah; Sarkozy, Anna; Manzur, Adnan; ... NorthStar Network; + view all Stimpson, Georgia; Raquq, Sarah; Chesshyre, Mary; Fewtrell, Mary; Ridout, Deborah; Sarkozy, Anna; Manzur, Adnan; Ayyar Gupta, Vandana; De Amicis, Ramona; Muntoni, Francesco; Baranello, Giovanni; NorthStar Network; - view fewer (2022) Growth pattern trajectories in boys with Duchenne muscular dystrophy. Orphanet Journal of Rare Diseases , 17 , Article 20. 10.1186/s13023-021-02158-9.

Stimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; ... NorthStar Network; + view all Stimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; Muntoni, Francesco; Cole, Tim J; Baranello, Giovanni; NorthStar Network; - view fewer (2023) Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys. Journal of Neuromuscular Diseases pp. 1-14. 10.3233/JND-230159.

Stödberg, T; McTague, A; Ruiz, AJ; Hirata, H; Zhen, J; Long, P; Farabella, I; ... Kurian, MA; + view all Stödberg, T; McTague, A; Ruiz, AJ; Hirata, H; Zhen, J; Long, P; Farabella, I; Meyer, E; Kawahara, A; Vassallo, G; Stivaros, SM; Bjursell, MK; Stranneheim, H; Tigerschiöld, S; Persson, B; Bangash, I; Das, K; Hughes, D; Lesko, N; Lundeberg, J; Scott, RC; Poduri, A; Scheffer, IE; Smith, H; Gissen, P; Schorge, S; Reith, ME; Topf, M; Kullmann, DM; Harvey, RJ; Wedell, A; Kurian, MA; - view fewer (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature Communications , 6 p. 8038. 10.1038/ncomms9038.

Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; ... Jacques, TS; + view all Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; Brooks, T; Kristiansen, M; Chalker, J; Wilkhu, L; Mifsud, W; Apps, J; Thom, M; Hubank, M; Forshew, T; Cross, JH; Hargrave, D; Ham, J; Jacques, TS; - view fewer (2018) Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. Acta Neuropathologica , 135 (1) pp. 115-129. 10.1007/s00401-017-1773-z.

Stotesbury, H; Hales, PW; Koelbel, M; Hood, AM; Kawadler, JM; Saunders, DE; Sahota, S; ... Kirkham, FJ; + view all Stotesbury, H; Hales, PW; Koelbel, M; Hood, AM; Kawadler, JM; Saunders, DE; Sahota, S; Rees, DC; Wilkey, O; Layton, M; Pelidis, M; Inusa, BPD; Howard, J; Chakravorty, S; Clark, CA; Kirkham, FJ; - view fewer (2022) Venous cerebral blood flow quantification and cognition in patients with sickle cell anemia. Journal of Cerebral Blood Flow & Metabolism 10.1177/0271678X211072391. (In press).

Stotesbury, H; Kawadler, JM; Saunders, DE; Kirkham, FJ; (2021) MRI detection of brain abnormality in sickle cell disease. Expert Review of Hematology , 14 (5) pp. 473-491. 10.1080/17474086.2021.1893687.

Stotesbury, Hanne; Hales, Patrick W; Hood, Anna M; Koelbel, Melanie; Kawadler, Jamie M; Saunders, Dawn E; Sahota, Sati; ... Kirkham, Fenella J; + view all Stotesbury, Hanne; Hales, Patrick W; Hood, Anna M; Koelbel, Melanie; Kawadler, Jamie M; Saunders, Dawn E; Sahota, Sati; Rees, David C; Wilkey, Olu; Layton, Mark; Pelidis, Maria; Inusa, Baba PD; Howard, Jo; Chakravorty, Subarna; Clark, Chris A; Kirkham, Fenella J; - view fewer (2022) Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study. Frontiers in Physiology , 13 , Article 865391. 10.3389/fphys.2022.865391.

Stotesbury, Hanne; Kawadler, Jamie M; Clayden, Jonathan D; Saunders, Dawn E; Hood, Anna M; Koelbel, Melanie; Sahota, Sati; ... Kirkham, Fenella J; + view all Stotesbury, Hanne; Kawadler, Jamie M; Clayden, Jonathan D; Saunders, Dawn E; Hood, Anna M; Koelbel, Melanie; Sahota, Sati; Rees, David C; Wilkey, Olu; Layton, Mark; Pelidis, Maria; Inusa, Baba PD; Howard, Jo; Chakravorty, Subarna; Clark, Chris A; Kirkham, Fenella J; - view fewer (2022) Quantification of Silent Cerebral Infarction on High-Resolution FLAIR and Cognition in Sickle Cell Anemia. Frontiers in Neurology , 13 , Article 867329. 10.3389/fneur.2022.867329.

Stotesbury, H; Hales, P; Kirkham, F; (2018) The promise of non-invasive cerebral hemodynamic assessment in Sickle Cell Anemia. Neurology Journal , 90 (13) pp. 585-586. 10.1212/WNL.0000000000005236.

Stotesbury, H; Kawadler, JM; Hales, PW; Saunders, DE; Clark, CA; Kirkham, FJ; (2019) Vascular Instability and Neurological Morbidity in Sickle Cell Disease: An Integrative Framework. Frontiers in Neurology , 10 , Article 871. 10.3389/fneur.2019.00871.

Stotesbury, H; Kirkham, F; Koelbel, M; Balfour, P; Clayden, J; Sahota, S; Sarkaria, S; ... Kawadler, J; + view all Stotesbury, H; Kirkham, F; Koelbel, M; Balfour, P; Clayden, J; Sahota, S; Sarkaria, S; Saunders, D; Howard, J; Kesse-Adu, R; Inusa, B; Pelidis, M; Chakravorty, S; Rees, DC; Awogbade, M; Wilkey, O; Layton, M; Clark, C; Kawadler, J; - view fewer (2018) White Matter Integrity and Processing Speed in Sickle Cell Anemia. Neurology , 90 (23) e2042-e2050. 10.1212/WNL.0000000000005644.

Stotesbury, H; Murdoch, R; Hales, P; Kawadler, J; Kolbel, M; Carmichael, D; Clark, C; ... Shmueli, K; + view all Stotesbury, H; Murdoch, R; Hales, P; Kawadler, J; Kolbel, M; Carmichael, D; Clark, C; Kirkham, F; Shmueli, K; - view fewer (2020) Venous oxygenation in sickle cell patients and controls using quantitative susceptibility mapping versus T2- relaxation-under-spin-tagging. In: Proceedings of the 2020 ISMRM & SMRT VIRTUAL CONFERENCE & EXHIBITION. (pp. pp. 1-3). International Society for Magnetic Resonance in Medicine (ISMRM)

Straathof, K; Flutter, B; Wallace, R; Jain, N; Loka, T; Depani, S; Wright, G; ... Anderson, J; + view all Straathof, K; Flutter, B; Wallace, R; Jain, N; Loka, T; Depani, S; Wright, G; Thomas, S; Cheung, GW-K; Gileadi, T; Stafford, S; Kokalaki, E; Barton, J; Marriott, C; Rampling, D; Ogunbiyi, O; Akarca, A; Marafioti, T; Inglott, S; Gilmour, K; Al-Hajj, M; Day, W; McHugh, K; Biassoni, L; Sizer, N; Barton, C; Edwards, D; Dragoni, I; Silvester, J; Dyer, K; Traub, S; Elson, L; Brook, S; Westwood, N; Robson, L; Bedi, A; Howe, K; Barry, A; Duncan, C; Barone, G; Pule, M; Anderson, J; - view fewer (2020) Anti-tumor activity without on-target off-tumor toxicity of GD2-Chimeric Antigen Receptor T cells in patients with neuroblastoma. Science Translational Medicine , 12 (571) , Article eabd6169. 10.1126/scitranslmed.abd6169.

Strandberg, K; Ayoglu, B; Roos, A; Reza, M; Niks, E; Signorelli, M; Fasterius, E; ... Szigyarto, CA-K; + view all Strandberg, K; Ayoglu, B; Roos, A; Reza, M; Niks, E; Signorelli, M; Fasterius, E; Pontén, F; Lochmüller, H; Domingos, J; Ala, P; Muntoni, F; Aartsma-Rus, A; Spitali, P; Nilsson, P; Szigyarto, CA-K; - view fewer (2020) Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. Journal of Neuromuscular Diseases , 7 (3) pp. 231-246. 10.3233/JND-190454.

Strasser, L; Downes, M; Kung, J; Cross, JH; De Haan, M; (2018) Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis. Developmental Medicine and Child Neurology , 60 (1) pp. 19-29. 10.1111/dmcn.13598.

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; ... Macek, Thomas A; + view all Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A; - view fewer (2022) Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine 10.1038/s41591-022-01866-4. (In press).

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; ... Macek, Thomas A; + view all Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Wigderson, Melissa; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A; - view fewer (2022) Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine 10.1038/s41591-022-01867-3. (In press).

Stricker, Paul A; Vutskits, Laszlo; de Graaff, Jurgen C; von Ungern-Sternberg, Britta S; Goobie, Susan M; Zuo, Yun-Xia; Ramos, Tania A; ... Davidson, Andrew J; + view all Stricker, Paul A; Vutskits, Laszlo; de Graaff, Jurgen C; von Ungern-Sternberg, Britta S; Goobie, Susan M; Zuo, Yun-Xia; Ramos, Tania A; Meyer, Heidi M; Taylor, Elsa M; Whyte, Simon D; Malic, Claudia C; Echeverry, Piedad C; Muhly, Wallis T; Xie, De-Ying; Walker, Suellen M; Razavi, Cyrus; Torborg, Alexandra M; Cravero, Joseph P; Kurth, C Dean; Rawlinson, Ellen; Yang, Lei; Xu, Ting; Graham, M Ruth; Seal, Rob; Sommerfield, Aine; Davidson, Andrew J; - view fewer (2025) Core outcome sets for pediatric perioperative research: An international stakeholder engagement exercise and consensus report from the Pediatric Perioperative Outcomes Group. Anesthesiology 10.1097/ALN.0000000000005693. (In press).

Stricker, PA; de Graaff, JC; Vutskits, L; Muhly, WT; Xu, T; Torborg, AM; Jiang, Y; ... Pediatric Perioperative Outcomes Group, .; + view all Stricker, PA; de Graaff, JC; Vutskits, L; Muhly, WT; Xu, T; Torborg, AM; Jiang, Y; Walker, SM; Pediatric Perioperative Outcomes Group, .; - view fewer (2018) Pediatric perioperative outcomes group: Defining core outcomes for pediatric anesthesia and perioperative medicine. Pediatric Anesthesia , 28 (4) pp. 314-315. 10.1111/pan.13354.

Su, MT; (2016) Functional and structural connectivity of reading networks in the adult brain. Doctoral thesis , UCL (University College London).

Sullivan, J; Cross, JH; (2021) Raising the bar: Fenfluramine sets new treatment standards for Dravet syndrome. Epilepsy & Behavior , 121 , Article 108061. 10.1016/j.yebeh.2021.108061.

Sullivan, JM; Motley, WW; Johnson, JO; Aisenberg, WH; Marshall, KL; Barwick, KES; Kong, L; ... Sumner, CJ; + view all Sullivan, JM; Motley, WW; Johnson, JO; Aisenberg, WH; Marshall, KL; Barwick, KES; Kong, L; Huh, JS; Saavedra-Rivera, PC; McEntagart, MM; Marion, M-H; Hicklin, LA; Modarres, H; Baple, EL; Farah, MH; Zuberi, AR; Lutz, CM; Gaudet, R; Traynor, BJ; Crosby, AH; Sumner, CJ; - view fewer (2020) Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. Journal of Clinical Investigation , 130 (3) pp. 1506-1512. 10.1172/JCI128152.

Suman, M; Sharpe, JA; Bentham, RB; Kotiadis, VN; Menegollo, M; Pignataro, V; Molgó, J; ... Szabadkai, G; + view all Suman, M; Sharpe, JA; Bentham, RB; Kotiadis, VN; Menegollo, M; Pignataro, V; Molgó, J; Muntoni, F; Duchen, MR; Pegoraro, E; Szabadkai, G; - view fewer (2018) Inositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients. Human Molecular Genetics , 27 (13) pp. 2367-2382. 10.1093/hmg/ddy149.

Surana, S; Rossor, T; Hassell, J; Boyd, S; D'Arco, F; Aylett, S; Bhate, S; ... Hacohen, Y; + view all Surana, S; Rossor, T; Hassell, J; Boyd, S; D'Arco, F; Aylett, S; Bhate, S; Carr, L; Das, K; DeVile, C; Eltze, C; Hemingway, C; Kaliakatsos, M; O'Callaghan, F; Prabhakar, P; Robinson, R; Varadkar, S; Cross, JH; Hacohen, Y; - view fewer (2020) Diagnostic algorithm for children presenting with epilepsia partialis continua. Epilepsia , 61 (10) pp. 2224-2233. 10.1111/epi.16650.

Surana, S; Kumar, R; Pitt, M; Hafner, P; Mclellan, A; Davidson, J; Prabakhar, P; ... Wright, S; + view all Surana, S; Kumar, R; Pitt, M; Hafner, P; Mclellan, A; Davidson, J; Prabakhar, P; Vincent, A; Hacohen, Y; Wright, S; - view fewer (2019) Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies. Developmental Medicine & Child Neurology , 61 (1) pp. 1344-1347. 10.1111/dmcn.14179.

Susana Muñoz, M; Bastin, ME; Deary, IJ; Wardlaw, JM; Clayden, JD; (2017) Improved reference tracts for unsupervised brain white matter tractography. In: (Proceedings) MIUA 2017: Medical Image Understanding and Analysis. (pp. pp. 425-435). Springer: Switzerland, Cham.

Sutcliffe, AG; Soo, A; Barnes, J; (2010) Predictive value of developmental testing in the second year for cognitive development at five years of age. Pediatric Reports , 2 (2) , Article e15. 10.4081/pr.2010.e15.

Sweeney, NP; Meng, J; Patterson, H; Morgan, JE; McClure, M; (2017) Delivery of large transgene cassettes by foamy virus vector. Scientific Reports , 7 (1) , Article 8085. 10.1038/s41598-017-08312-3.

Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; ... Bönnemann, Carsten G; + view all Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G; - view fewer (2023) Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2023-332132. (In press).

Symonds, JD; McTague, A; (2020) Epilepsy and developmental disorders: Next generation sequencing in the clinic. European Journal of Paediatric Neurology , 24 pp. 15-23. 10.1016/j.ejpn.2019.12.008.

Szunyogova, E; Zhou, H; Maxwell, GK; Powis, RA; Francesco, M; Gillingwater, TH; Parson, SH; (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. SCIENTIFIC REPORTS , 6 (ARTN 346) 10.1038/srep34635.

Szychot, E; Seunarine, K; Robles, C; Mandeville, H; Mankad, K; Clark, C; Peregud-Pogorzelski, J; Szychot, E; Seunarine, K; Robles, C; Mandeville, H; Mankad, K; Clark, C; Peregud-Pogorzelski, J; DeSouza, N; - view fewer (2020) Estimating brain volume loss after radiation therapy in children treated for posterior fossa tumors (Corpus callosum and whole brain volume changes following radiotherapy in children). Advances in Clinical and Experimental Medicine , 29 (3) 10.17219/acem/114827.

T

Tabrizi, SJ; McColgan, P; Gregory, S; Seunarine, K; Durr, A; Raymund, R; Leavitt, B; ... Rees, G; + view all Tabrizi, SJ; McColgan, P; Gregory, S; Seunarine, K; Durr, A; Raymund, R; Leavitt, B; Scahill, R; Clark, C; Langbehn, D; Rees, G; - view fewer (2017) Structural and Functional Brain Network Correlates of Depressive Symptoms in Premanifest Huntington’s Disease. Human Brain Mapping , 38 (6) pp. 2819-2829. 10.1002/hbm.23527.

Takahashi, Keigo; Nelvagal, Hemanth R; Lange, Jenny; Cooper, Jonathan D; (2022) Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses. Frontiers in Neurology , 13 , Article 886567. 10.3389/fneur.2022.886567.

Talenti, G; Robson, C; Severino, MS; Alves, CA; Chitayat, D; Dahmoush, H; Smith, L; ... D'Arco, F; + view all Talenti, G; Robson, C; Severino, MS; Alves, CA; Chitayat, D; Dahmoush, H; Smith, L; Muntoni, F; Blaser, SI; D'Arco, F; - view fewer (2021) Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in alpha-Dystroglycan-Related Muscular Disorders. American Journal of Neuroradiology , 42 (1) pp. 167-172. 10.3174/ajnr.A6858.

TAN, TJ; Garcia Canadilla, P; Bjinens, B; Dejea, H; Bonnin, A; Tran, V; Arthurs, O; ... Cook, A; + view all TAN, TJ; Garcia Canadilla, P; Bjinens, B; Dejea, H; Bonnin, A; Tran, V; Arthurs, O; Simcock, I; Tobon-Geers, C; Geers, AJ; Comamala, JV; Stampanoni, M; Rau, C; Cook, A; - view fewer (2018) Using micro-CT and X-PCI to visualize coronary morphology and ventriculo-coronary arterial connections in the setting of Pulmonary Atresia with Intact Ventricular Septum. Presented at: UK Medical Careers Conference 2018, London, UK.

Tansley, SL; Simou, S; Shaddick, G; Betteridge, ZE; Almeida, B; Gunawardena, H; Thomson, W; ... McHugh, NJ; + view all Tansley, SL; Simou, S; Shaddick, G; Betteridge, ZE; Almeida, B; Gunawardena, H; Thomson, W; Beresford, MW; Midgley, A; Muntoni, F; Wedderburn, LR; McHugh, NJ; - view fewer (2017) Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort. J Autoimmun 10.1016/j.jaut.2017.06.007. (In press).

Taquet, Maxime; Devinsky, Orrin; Cross, J Helen; Harrison, Paul J; Sen, Arjune; (2023) Incidence of Epilepsy and Seizures Over the First 6 Months After a COVID-19 Diagnosis: A Retrospective Cohort Study. Neurology , 100 (8) e790-e799. 10.1212/WNL.0000000000201595.

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; ... Bellen, Hugo J; + view all Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Undiagnosed Diseases Network; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J; - view fewer (2023) Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics , 110 (5) pp. 774-789. 10.1016/j.ajhg.2023.03.012.

Tewari, S; Renney, G; Brewin, J; Gardner, K; Kirkham, F; Inusa, B; Barrett, JE; ... Reese, DC; + view all Tewari, S; Renney, G; Brewin, J; Gardner, K; Kirkham, F; Inusa, B; Barrett, JE; Menzel, S; Thein, SL; Ward, M; Reese, DC; - view fewer (2018) Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction. Haematologica , 103 (7) pp. 1136-1142. 10.3324/haematol.2018.187815.

Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; ... Smith, KGC; + view all Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; Farmery, JHR; Simeoni, I; Rivers, E; Maimaris, J; Penkett, CJ; Stephens, J; Deevi, SVV; Sanchis-Juan, A; Gleadall, NS; Thomas, MJ; Sargur, RB; Gordins, P; Baxendale, HE; Brown, M; Tuijnenburg, P; Worth, A; Hanson, S; Linger, RJ; Buckland, MS; Rayner-Matthews, PJ; Gilmour, KC; Samarghitean, C; Seneviratne, SL; Sansom, DM; Lynch, AG; Megy, K; Ellinghaus, E; Ellinghaus, D; Jorgensen, SF; Karlsen, TH; Stirrups, KE; Cutler, AJ; Kumararatne, DS; Chandra, A; Edgar, JDM; Herwadkar, A; Cooper, N; Grigoriadou, S; Huissoon, AP; Goddard, S; Jolles, S; Schuetz, C; Boschann, F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons, PA; Hurles, ME; Savic, S; Burns, SO; Kuijpers, TW; Turro, E; Ouwehand, WH; Thrasher, AJ; Smith, KGC; - view fewer (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature , 583 pp. 90-95. 10.1038/s41586-020-2265-1.

Thayyil, S; Montaldo, P; Krishnan, V; Ivain, P; Pant, S; Lally, PJ; Bandiya, P; ... Shankaran, S; + view all Thayyil, S; Montaldo, P; Krishnan, V; Ivain, P; Pant, S; Lally, PJ; Bandiya, P; Benkappa, N; Kamalaratnam, CN; Chandramohan, R; Manerkar, S; Mondkar, J; Jahan, I; Moni, SC; Shahidullah, M; Rodrigo, R; Sumanasena, S; Sujatha, R; Burgod, C; Garegrat, R; Mazlan, M; Chettri, I; Babu Peter, S; Joshi, AR; Swamy, R; Chong, K; Pressler, RR; Bassett, P; Shankaran, S; - view fewer (2023) Whole-Body Hypothermia, Cerebral Magnetic Resonance Biomarkers, and Outcomes in Neonates With Moderate or Severe Hypoxic-Ischemic Encephalopathy Born at Tertiary Care Centers vs Other Facilities: A Nested Study Within a Randomized Clinical Trial. Jama Network Open , 6 (5) , Article e2312152. 10.1001/jamanetworkopen.2023.12152.

Thayyil, S; Pant, S; Montaldo, P; Shukla, D; Oliveira, V; Ivain, P; Bassett, P; ... Shankaran, S; + view all Thayyil, S; Pant, S; Montaldo, P; Shukla, D; Oliveira, V; Ivain, P; Bassett, P; Swamy, R; Mendoza, J; Moreno-Morales, M; Lally, PJ; Benakappa, N; Bandiya, P; Shivarudhrappa, I; Somanna, J; Kantharajanna, UB; Rajvanshi, A; Krishnappa, S; Joby, PK; Jayaraman, K; Chandramohan, R; Kamalarathnam, CN; Sebastian, M; Tamilselvam, IA; Rajendran, UD; Soundrarajan, R; Kumar, V; Sudarsanan, H; Vadakepat, P; Gopalan, K; Sundaram, M; Seeralar, A; Vinayagam, P; Sajjid, M; Baburaj, M; Murugan, KD; Sathyanathan, BP; Kumaran, ES; Mondkar, J; Manerkar, S; Joshi, AR; Dewang, K; Bhisikar, SM; Kalamdani, P; Bichkar, V; Patra, S; Jiwnani, K; Shahidullah, M; Moni, SC; Jahan, I; Mannan, MA; Dey, SK; Nahar, MN; Islam, MN; Shabuj, KH; Rodrigo, R; Sumanasena, S; Abayabandara-Herath, T; Chathurangika, GK; Wanigasinghe, J; Sujatha, R; Saraswathy, S; Rahul, A; Radha, SJ; Sarojam, MK; Krishnan, V; Nair, MK; Devadas, S; Chandriah, S; Venkateswaran, H; Burgod, C; Chandrasekaran, M; Atreja, G; Muraleedharan, P; Herberg, JA; Kling Chong, WK; Sebire, NJ; Pressler, R; Ramji, S; Shankaran, S; - view fewer (2021) Hypothermia for moderate or severe neonatal encephalopathy in low-income and middle-income countries (HELIX): a randomised controlled trial in India, Sri Lanka, and Bangladesh. The Lancet Global Health , 9 (9) e1273-e1285. 10.1016/S2214-109X(21)00264-3.

The European Institute for Biomedical Imaging Research (EIBIR); (2019) Strategic research agenda for biomedical imaging. Insights into Imaging , 10- , Article 7. 10.1186/s13244-019-0684-z.

Themistocleous, Andreas C; Baskozos, Georgios; Blesneac, Iulia; Comini, Maddalena; Megy, Karyn; Chong, Sam; Deevi, Sri VV; ... Bennett, David LH; + view all Themistocleous, Andreas C; Baskozos, Georgios; Blesneac, Iulia; Comini, Maddalena; Megy, Karyn; Chong, Sam; Deevi, Sri VV; Ginsberg, Lionel; Gosal, David; Hadden, Robert DM; Horvath, Rita; Mahdi-Rogers, Mohamed; Manzur, Adnan; Mapeta, Rutendo; Marshall, Andrew; Matthews, Emma; McCarthy, Mark I; Reilly, Mary M; Renton, Tara; Rice, Andrew SC; Vale, Tom A; van Zuydam, Natalie; Walker, Suellen M; Woods, Christopher Geoffrey; Bennett, David LH; - view fewer (2023) Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain Commun , 5 (2) , Article fcad037. 10.1093/braincomms/fcad037.

Thiele, EA; Bebin, EM; Bhathal, H; Jansen, FE; Kotulska, K; Lawson, JA; O'Callaghan, FJ; ... Knappertz, V; + view all Thiele, EA; Bebin, EM; Bhathal, H; Jansen, FE; Kotulska, K; Lawson, JA; O'Callaghan, FJ; Wong, M; Sahebkar, F; Checketts, D; Knappertz, V; - view fewer (2020) Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex A Placebo-Controlled Randomized Clinical Trial. JAMA Neurology , 78 (3) pp. 285-292. 10.1001/jamaneurol.2020.4607.

Thienpont, B; Aronsen, JM; Robinson, EL; Okkenhaug, H; Loche, E; Ferrini, A; Brien, P; ... Roderick, HL; + view all Thienpont, B; Aronsen, JM; Robinson, EL; Okkenhaug, H; Loche, E; Ferrini, A; Brien, P; Alkass, K; Tomasso, A; Agrawal, A; Bergmann, O; Sjaastad, I; Reik, W; Roderick, HL; - view fewer (2017) The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy. Journal of Clinical Investigation , 127 (1) pp. 335-348. 10.1172/jci88353.

Tho-Calvi, S; Thompson, D; Saunders, D; Agrawal, S; Basu, A; Chitre, M; Chow, G; ... Ganesan, V; + view all Tho-Calvi, S; Thompson, D; Saunders, D; Agrawal, S; Basu, A; Chitre, M; Chow, G; Gibbon, F; Hart, A; Tallur, KK; Kirkham, F; Kneen, R; McCullagh, H; Mewasingh, L; Vassalo, G; Vijayakumar, K; Wraige, E; Yeo, TH; Ganesan, V; - view fewer (2018) Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya. Neurology , 90 (9) e763-e767. 10.1212/WNL.0000000000005026.

Thomas, DL; Nery, F; Gordon, I; Clark, CA; Ourselin, S; Golay, X; Atkinson, D; Thomas, DL; Nery, F; Gordon, I; Clark, CA; Ourselin, S; Golay, X; Atkinson, D; De Vita, E; - view fewer (2016) Reduction of motion artefacts in multi-shot 3D GRASE Arterial Spin Labelling using autofocus. In: Proceedings of the ISMRM 24th Annual Meeting & Exhibition. (pp. p. 2874). International Society for Magnetic Resonance in Medicine (ISMRM): Singapore.

Thompson, Jacqueline Y; Menzies, Julie C; Manning, Joseph C; McAnuff, Jennifer; Brush, Emily Clare; Ryde, Francesca; Rapley, Tim; ... Scholefield, Barnaby R; + view all Thompson, Jacqueline Y; Menzies, Julie C; Manning, Joseph C; McAnuff, Jennifer; Brush, Emily Clare; Ryde, Francesca; Rapley, Tim; Pathan, Nazima; Brett, Stephen; Moore, David J; Geary, Michelle; Colville, Gillian A; Morris, Kevin P; Parslow, Roger Charles; Feltbower, Richard G; Lockley, Sophie; Kirkham, Fenella J; Forsyth, Rob J; Scholefield, Barnaby R; - view fewer (2022) Early mobilisation and rehabilitation in the PICU: a UK survey. BMJ Paediatrics Open , 6 (1) , Article e001300. 10.1136/bmjpo-2021-001300.

Thompson-Lake, Daisy GY; Liegeois, Frederique J; Braden, Ruth O; Jackson, Graeme D; Turner, Samantha J; Morison, Lottie; Hildebrand, Michael; ... Morgan, Angela T; + view all Thompson-Lake, Daisy GY; Liegeois, Frederique J; Braden, Ruth O; Jackson, Graeme D; Turner, Samantha J; Morison, Lottie; Hildebrand, Michael; Scheffer, Ingrid E; Morgan, Angela T; - view fewer (2024) Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants. Neurology Genetics , 10 (2) , Article e200129. 10.1212/NXG.0000000000200129.

Thompson-Lake, DGY; Scerri, TS; Block, S; Turner, SJ; Reilly, S; Kefalianos, E; Bonthrone, AF; ... Morgan, AT; + view all Thompson-Lake, DGY; Scerri, TS; Block, S; Turner, SJ; Reilly, S; Kefalianos, E; Bonthrone, AF; Helbig, I; Bahlo, M; Scheffer, IE; Hildebrand, MS; Liegeois, F; Morgan, AT; - view fewer (2022) Atypical development of Broca's area in a large family with inherited stuttering. Brain , 145 (3) pp. 1177-1188. 10.1093/brain/awab364.

Thompson-Lake, DGY; De La Garza, R; Hajek, P; (2017) Breath holding endurance: stability over time and relationship with self-assessed persistence. Heliyon , 3 (9) , Article e00398. 10.1016/j.heliyon.2017.e00398.

Thöny, B; Ng, J; Kurian, MA; Mills, P; Martinez, A; (2024) Mouse models for inherited monoamine neurotransmitter disorders. Journal of Inherited Metabolic Disease 10.1002/jimd.12710. (In press).

Thorley, M; Duguez, S; Mazza, EMC; Valsoni, S; Bigot, A; Mamchaoui, K; Harmon, B; ... Duddy, W; + view all Thorley, M; Duguez, S; Mazza, EMC; Valsoni, S; Bigot, A; Mamchaoui, K; Harmon, B; Voit, T; Mouly, V; Duddy, W; - view fewer (2016) Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines. Skeletal Muscle , 6 (1) , Article 43. 10.1186/s13395-016-0115-5.

Thornton, RC; (2014) Imaging brain networks in focal epilepsy: a prospective study of the clinical application of simultaneous EEG-fMRI in pre-surgical evaluation. Doctoral thesis , UCL (University College London).

Thorpe, J; Ashby, S; Cross, JH; Sander, JW; Newton, C; Hanna, J; Sen, A; Thorpe, J; Ashby, S; Cross, JH; Sander, JW; Newton, C; Hanna, J; Sen, A; COV-E Study Group; - view fewer (2021) The impact of COVID-19 on epilepsy care: Perspectives from UK healthcare workers. Epilepsy & Behavior Reports , 16 , Article 100487. 10.1016/j.ebr.2021.100487.

Thorpe, J; Ashby, S; Hallab, A; Ding, D; Andraus, M; Dugan, P; Perucca, P; ... COVID-19 and Epilepsy (COV-E) Study Group; + view all Thorpe, J; Ashby, S; Hallab, A; Ding, D; Andraus, M; Dugan, P; Perucca, P; Costello, D; French, JA; O'Brien, TJ; Depondt, C; Andrade, DM; Sengupta, R; Delanty, N; Jette, N; Newton, CR; Brodie, MJ; Devinsky, O; Helen Cross, J; Sander, JW; Hanna, J; Sen, A; COVID-19 and Epilepsy (COV-E) Study Group; - view fewer (2020) Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E study. Epilepsy & Behavior 10.1016/j.yebeh.2020.107658. (In press).

Thyoka, M; Adekunle, O; Pilkington, C; Walters, S; Arthurs, OJ; Humphries, P; Johnson, K; ... Offiah, AC; + view all Thyoka, M; Adekunle, O; Pilkington, C; Walters, S; Arthurs, OJ; Humphries, P; Johnson, K; Kraft, J; Landes, C; Persaud, T; Sinha, R; Offiah, AC; - view fewer (2018) Introduction of a novel magnetic resonance imaging-based scoring system for assessing disease activity in children with juvenile dermatomyositis. Rheumatology , 57 (9) pp. 1661-1668. 10.1093/rheumatology/key144.

Tierney, TM; (2017) Development and Application of Functional Magnetic Resonance Imaging in Paediatric Focal Epilepsy. Doctoral thesis , UCL (University College London).

Tierney, TM; Holmes, N; Meyer, SS; Boto, E; Roberts, G; Leggett, J; Buck, S; ... Barnes, GR; + view all Tierney, TM; Holmes, N; Meyer, SS; Boto, E; Roberts, G; Leggett, J; Buck, S; Duque-Muñoz, L; Litvak, V; Bestmann, S; Baldeweg, T; Bowtell, R; Brookes, MJ; Barnes, GR; - view fewer (2018) Cognitive neuroscience using wearable magnetometer arrays: Non-invasive assessment of language function. NeuroImage , 181 pp. 513-520. 10.1016/j.neuroimage.2018.07.035.

Tierney, TM; Weiss-Croft, LJ; Centeno, M; Shamshiri, EA; Perani, S; Baldeweg, T; Clark, CA; Tierney, TM; Weiss-Croft, LJ; Centeno, M; Shamshiri, EA; Perani, S; Baldeweg, T; Clark, CA; Carmichael, DW; - view fewer (2016) FIACH: A biophysical model for automatic retrospective noise control in fMRI. Neuroimage , 124 (Pt A) pp. 1009-1020. 10.1016/j.neuroimage.2015.09.034.

Timmins, Kate A; Hales, Tim G; Macfarlane, Gary J; Consortium Against Pain InEquality (CAPE) investigators and Chr; (2025) Childhood maltreatment and chronic “all over” body pain in adulthood: a counterfactual analysis using UK Biobank. Pain , 166 (5) pp. 1204-1211. 10.1097/j.pain.0000000000003457.

Tinuper, P; Bisulli, F; Cross, JH; Hesdorffer, D; Kahane, P; Nobili, L; Provini, F; ... Ottman, R; + view all Tinuper, P; Bisulli, F; Cross, JH; Hesdorffer, D; Kahane, P; Nobili, L; Provini, F; Scheffer, IE; Tassi, L; Vignatelli, L; Bassetti, C; Cirignotta, F; Derry, C; Gambardella, A; Guerrini, R; Halasz, P; Licchetta, L; Mahowald, M; Manni, R; Marini, C; Mostacci, B; Naldi, I; Parrino, L; Picard, F; Pugliatti, M; Ryvlin, P; Vigevano, F; Zucconi, M; Berkovic, S; Ottman, R; - view fewer (2016) Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology , 86 (19) pp. 1834-1842. 10.1212/WNL.0000000000002666.

Titre-Johnson, S; Schoeler, N; Eltze, C; Williams, R; Vezyroglou, K; McCullagh, H; Freemantle, N; ... Cross, JH; + view all Titre-Johnson, S; Schoeler, N; Eltze, C; Williams, R; Vezyroglou, K; McCullagh, H; Freemantle, N; Heales, S; Kneen, R; Marston, L; Martland, T; Nazareth, I; Neal, E; Lux, A; Parker, A; Agrawal, S; Fallon, P; Cross, JH; - view fewer (2017) Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial. Trials , 18 , Article 195. 10.1186/s13063-017-1918-3.

Tiziano, FD; Lomastro, R; Abiusi, E; Pasanisi, MB; Di Pietro, L; Fiori, S; Baranello, G; ... Morandi, L; + view all Tiziano, FD; Lomastro, R; Abiusi, E; Pasanisi, MB; Di Pietro, L; Fiori, S; Baranello, G; Angelini, C; Sorarù, G; Gaiani, A; Mongini, T; Vercelli, L; Mercuri, E; Vasco, G; Pane, M; Vita, G; Vita, G; Messina, S; Petillo, R; Passamano, L; Politano, L; Campanella, A; Mantegazza, R; Morandi, L; - view fewer (2018) Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. Journal of Medical Genetics 10.1136/jmedgenet-2018-105482. (In press).

Tizzano, Eduardo F; Christie-Brown, Vanessa; Baranello, Giovanni; Germanenko, Olga; Gray, Allyson; Krstic, Marija; Lilien, Charlotte; ... Scoto, Mariacristina; + view all Tizzano, Eduardo F; Christie-Brown, Vanessa; Baranello, Giovanni; Germanenko, Olga; Gray, Allyson; Krstic, Marija; Lilien, Charlotte; Patel, Hinal; Servais, Laurent; Scoto, Mariacristina; - view fewer (2022) Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative. Journal of Neuromuscular Diseases , 9 (6) pp. 809-820. 10.3233/JND-221538.

Toescu, Sebastian M; Bruckert, Lisa; Jabarkheel, Rashad; Yecies, Derek; Zhang, Michael; Clark, Christopher A; Mankad, Kshitij; ... Yeom, Kristen W; + view all Toescu, Sebastian M; Bruckert, Lisa; Jabarkheel, Rashad; Yecies, Derek; Zhang, Michael; Clark, Christopher A; Mankad, Kshitij; Aquilina, Kristian; Grant, Gerald A; Feldman, Heidi M; Travis, Katherine E; Yeom, Kristen W; - view fewer (2022) Spatiotemporal changes in along-tract profilometry of cerebellar peduncles in cerebellar mutism syndrome. NeuroImage: Clinical , 35 , Article 103000. 10.1016/j.nicl.2022.103000.

Toescu, SM; Hales, PW; Cooper, J; Dyson, EW; Mankad, K; Clayden, JD; Aquilina, K; Toescu, SM; Hales, PW; Cooper, J; Dyson, EW; Mankad, K; Clayden, JD; Aquilina, K; Clark, CA; - view fewer (2022) Arterial Spin-Labeling Perfusion Metrics in Pediatric Posterior Fossa Tumor Surgery. AJNR American Journal of Neuroradiology , 43 (10) pp. 1508-1515. 10.3174/ajnr.A7637.

Toescu, SM; Hales, PW; Kaden, E; Lacerda, LM; Aquilina, K; Clark, CA; (2021) Tractographic and Microstructural Analysis of the Dentato-Rubro-Thalamo-Cortical Tracts in Children Using Diffusion MRI. Cerebral Cortex , 31 (5) pp. 2595-2609. 10.1093/cercor/bhaa377.

Toescu, SM; Samarth, G; Layard Horsfall, H; Issitt, R; Margetts, B; Phipps, KP; Jeelani, N-U-O; ... Aquilina, K; + view all Toescu, SM; Samarth, G; Layard Horsfall, H; Issitt, R; Margetts, B; Phipps, KP; Jeelani, N-U-O; Thompson, DNP; Aquilina, K; - view fewer (2021) Fourth ventricle tumors in children: complications and influence of surgical approach. Journal of Neurosurgery: Pediatrics , 27 (1) pp. 52-61. 10.3171/2020.6.peds2089.

Toescu, SM; Hales, PW; Aquilina, K; Clark, CA; (2018) Quantitative MRI in post-operative paediatric cerebellar mutism syndrome. European Journal of Radiology , 108 pp. 43-51. 10.1016/j.ejrad.2018.09.007.

Toescu, SM; Hales, PW; Tisdall, MM; Aquilina, K; Clark, CA; (2020) Neurosurgical applications of tractography in the UK. British Journal of Neurosurgery 10.1080/02688697.2020.1849542. (In press).

Toescu, SM; Hettige, S; Phipps, K; Smith, RJP; Haffenden, V; Clark, C; Hayward, R; ... Aquilina, K; + view all Toescu, SM; Hettige, S; Phipps, K; Smith, RJP; Haffenden, V; Clark, C; Hayward, R; Mankad, K; Aquilina, K; - view fewer (2018) Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI. Child's Nervous System , 34 (11) pp. 2249-2257. 10.1007/s00381-018-3867-x.

Toescu, SM; James, G; Phipps, K; Jeelani, O; Thompson, D; Hayward, R; Aquilina, K; (2018) Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution. Neurosurgery , 84 (3) pp. 636-646. 10.1093/neuros/nyy081.

Töpf, A; Pyle, A; Griffin, H; Matalonga, L; Schon, K; Cohen, E; Cuesta, I; ... Horvath, R; + view all Töpf, A; Pyle, A; Griffin, H; Matalonga, L; Schon, K; Cohen, E; Cuesta, I; Danis, D; Denommé-Pichon, AS; Duffourd, Y; Gilissen, C; Johari, M; Laurie, S; Li, S; Nelson, I; Paramonov, I; Peters, S; Prasanth, S; Robinson, P; Sablauskas, K; Savarese, M; Steyaert, W; van der Velde, JK; Vitobello, A; Baets, J; Beijer, D; Bonne, G; Cossins, J; Evangelista, T; Ferlini, A; Hackman, P; Hanna, MG; Houlden, H; Lau, J; Lochmüller, H; Macken, WL; Musacchia, F; Nascimento, A; Natera-de Benito, D; Nigro, V; Piluso, G; Pini, V; Pitceathly, RDS; Polavarapu, K; Cruz, PMR; Sarkozy, A; Selvatici, R; Thompson, R; Torella, A; Udd, B; Van de Vondel, L; Vandrovcova, J; Zaharieva, I; Sickmann, A; Schara–Schmidt, U; Hentschel, A; Chinnery, PF; Kölbel, H; Roos, A; Horvath, R; - view fewer (2021) Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). European Journal of Human Genetics , 29 (9) pp. 1348-1353. 10.1038/s41431-021-00851-8.

Töpf, Ana; Cox, Dan; Zaharieva, Irina T; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M; ... Straub, Volker; + view all Töpf, Ana; Cox, Dan; Zaharieva, Irina T; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M; Smolnikov, Andrei; White, Richard J; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L; Cummings, Beryl B; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G; Cooper, Sandra T; Davis, Mark R; Donkervoort, Sandra; Erasmus, Corrie E; Fassad, Mahmoud R; Genetti, Casie A; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L; O'Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A; Romero, Norma B; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C; Wanschitz, Julia V; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J; MacArthur, Daniel G; Sarkozy, Anna; Cordell, Heather J; Udd, Bjarne; Busch-Nentwich, Elisabeth M; Muntoni, Francesco; Straub, Volker; - view fewer (2024) Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics 10.1038/s41588-023-01651-0. (In press).

Torelli, S; Scaglioni, D; Sardone, V; Ellis, MJ; Domingos, J; Jones, A; Feng, L; ... Muntoni, F; + view all Torelli, S; Scaglioni, D; Sardone, V; Ellis, MJ; Domingos, J; Jones, A; Feng, L; Chambers, D; Eastwood, DM; Leturcq, F; Yaou, RB; Urtizberea, A; Sabouraud, P; Barnerias, C; Stojkovic, T; Ricci, E; Beuvin, M; Bonne, G; Sewry, CA; Willis, T; Kulshrestha, R; Tasca, G; Phadke, R; Morgan, JE; Muntoni, F; - view fewer (2021) High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients. Journal of Neuropathology & Experimental Neurology , Article nlab088. 10.1093/jnen/nlab088. (In press).

Torres-Masjoan, Laia; Aguti, Sara; Zhou, Haiyan; Muntoni, Francesco; (2025) Clinical applications of exon skipping antisense oligonucleotides in neuromuscular diseases. Molecular Therapy 10.1016/j.ymthe.2025.04.038. (In press).

Traub, RD; Moeller, F; Rosch, R; Baldeweg, T; Whittington, MA; Hall, SP; (2020) Seizure initiation in infantile spasms vs. focal seizures: proposed common cellular mechanisms. Reviews in the Neurosciences , 31 (2) pp. 181-200. 10.1515/revneuro-2019-0030.

Treves, S; Jungbluth, H; Voermans, N; Muntoni, F; Zorzato, F; (2017) Ca²⁺ handling abnormalities in early-onset muscle diseases: novel concepts and perspectives. Seminars in Cell & Developmental Biology , 64 pp. 201-212. 10.1016/j.semcdb.2016.07.017.

Trimmer, Rachel E; Mandy, William PL; Muntoni, Francesco; Maresh, Kate E; (2024) Understanding anxiety experienced by young males with Duchenne Muscular Dystrophy: a qualitative focus group study. Neuromuscular Disorders , 34 pp. 95-104. 10.1016/j.nmd.2023.12.002.

Trucco, F; Domingos, J; Tay, CG; Ridout, D; Maresh, K; Munot, P; Sarkozy, A; ... Muntoni, F; + view all Trucco, F; Domingos, J; Tay, CG; Ridout, D; Maresh, K; Munot, P; Sarkozy, A; Robb, S; Quinlivan, R; Riley, M; Burch, M; Fenton, M; Wallis, C; Chan, E; Abel, F; Manzur, A; Muntoni, F; - view fewer (2020) Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study. Chest , 158 (4) pp. 1606-1616. 10.1016/j.chest.2020.04.043.

Trucco, F; Ridout, D; Scoto, M; Coratti, G; Main, ML; Lofra, RM; Mayhew, AG; ... International SMA consortium (iSMAc); + view all Trucco, F; Ridout, D; Scoto, M; Coratti, G; Main, ML; Lofra, RM; Mayhew, AG; Montes, J; Pane, M; Sansone, V; Albamonte, E; D'Amico, A; Bertini, E; Messina, S; Bruno, C; Parasuraman, D; Childs, A-M; Gowda, V; Willis, T; Ong, M; Marini-Bettolo, C; De Vivo, DC; Darras, BT; Day, J; Kichula, EA; Mayer, OH; Navas Nazario, AA; Finkel, RS; Mercuri, E; Muntoni, F; International SMA consortium (iSMAc); - view fewer (2020) Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study. Neurology 10.1212/WNL.0000000000011051. (In press).

Trump, N; McTague, A; Brittain, H; Papandreou, A; Meyer, E; Ngoh, A; Palmer, R; ... Scott, RH; + view all Trump, N; McTague, A; Brittain, H; Papandreou, A; Meyer, E; Ngoh, A; Palmer, R; Morrogh, D; Boustred, C; Hurst, JA; Jenkins, L; Kurian, MA; Scott, RH; - view fewer (2016) Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. Journal of Medical Genetics , 53 (5) pp. 310-317. 10.1136/jmedgenet-2015-103263.

Tsang, MHY; Chiu, ATG; Kwong, BMH; Liang, R; Yu, MHC; Yeung, K-S; Ho, WHL; ... Chan, SHS; + view all Tsang, MHY; Chiu, ATG; Kwong, BMH; Liang, R; Yu, MHC; Yeung, K-S; Ho, WHL; Mak, CCY; Leung, GKC; Pei, SLC; Fung, JLF; Wong, VCN; Muntoni, F; Chung, BHY; Chan, SHS; - view fewer (2020) Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular Genetics & Genomic Medicin , 8 (5) , Article e1205. 10.1002/mgg3.1205.

Tsirka, A; Liasis, A; Kuczynski, A; Vargha-Khadem, F; Kukadia, R; Dutton, G; Bowman, R; (2020) Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies. Developmental Medicine & Child Neurology 10.1111/dmcn.14650. (In press).

Tu, YuShan; Muley, Milind M; Beggs, Simon; Salter, Michael W; (2022) Microglia-independent peripheral neuropathic pain in male and female mice. Pain , 163 (11) e1129-e1144. 10.1097/j.pain.0000000000002643.

Tupprasoot, R; Langan, D; Hutchinson, JC; Barrett, H; Sury, MR; Arthurs, OJ; (2017) Three-Dimensional Imaging-Based Web Application for Predicting Tracheal Tube Depth in Preterm Neonates. Neonatology , 111 (4) pp. 376-382. 10.1159/000455036.

Tur, C; Eshaghi, A; Altmann, DR; Jenkins, TM; Prados, F; Grussu, F; Charalambous, T; ... Toosy, AT; + view all Tur, C; Eshaghi, A; Altmann, DR; Jenkins, TM; Prados, F; Grussu, F; Charalambous, T; Schmidt, A; Ourselin, S; Clayden, JD; Wheeler-Kingshott, C; Thompson, AJ; Ciccarelli, O; Toosy, AT; - view fewer (2018) Structural cortical network reorganization associated with early conversion to multiple sclerosis. Scientific Reports , 8 , Article 10715. 10.1038/s41598-018-29017-1.

Tur, C; Eshaghi, A; Jenkins, TM; Prados, F; Clayden, JD; Ourselin, S; Altmann, DR; ... Toosy, AT; + view all Tur, C; Eshaghi, A; Jenkins, TM; Prados, F; Clayden, JD; Ourselin, S; Altmann, DR; Wheeler-Kingshott, CAM; Miller, DH; Thompson, AJ; Ciccarelli, O; Toosy, AT; - view fewer (2016) Longitudinal changes in structural cortical networks after clinically isolated syndrome. Presented at: 22nd Annual Meeting of the Organization for Human Brain Mapping, Geneva, Switzerland.

Tur, C; Eshaghi, A; Jenkins, TM; Prados, F; Clayden, JD; Ourselin, S; Altmann, DR; ... Toosy, AT; + view all Tur, C; Eshaghi, A; Jenkins, TM; Prados, F; Clayden, JD; Ourselin, S; Altmann, DR; Wheeler-Kingshott, CAM; Miller, DH; Thompson, AJ; Ciccarelli, O; Toosy, AT; - view fewer (2016) Longitudinal changes in structural cortical networks after clinically isolated syndrome. European Journal of Neurology , 23 (S2) , Article O1122. 10.1111/ene.13091.

Tur, C; Grussu, F; Prados Carrasco, F; Charalambous, T; Collorone, S; Kanber, B; Cawley, N; ... Ciccarelli, O; + view all Tur, C; Grussu, F; Prados Carrasco, F; Charalambous, T; Collorone, S; Kanber, B; Cawley, N; Altmann, DR; Wheeler-Kingshott, CAM; Ciccarelli, O; - view fewer (2019) A multi-shell multi-tissue diffusion study of brain connectivity in early multiple sclerosis. Multiple Sclerosis Journal 10.1177/1352458519845105. (In press).

Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; ... Ouwehand, WH; + view all Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; Sanchis-Juan, A; Frontini, M; Thys, C; Stephens, J; Mapeta, R; Burren, OS; Downes, K; Haimel, M; Tuna, S; Deevi, SVV; Aitman, TJ; Bennett, DL; Calleja, P; Carss, K; Caulfield, MJ; Chinnery, PF; Dixon, PH; Gale, DP; James, R; Koziell, A; Laffan, MA; Levine, AP; Maher, ER; Markus, HS; Morales, J; Morrell, NW; Mumford, AD; Ormondroyd, E; Rankin, S; Rendon, A; Richardson, S; Roberts, I; Roy, NBA; Saleem, MA; Smith, KGC; Stark, H; Tan, RYY; Themistocleous, AC; Thrasher, AJ; Watkins, H; Webster, AR; Wilkins, MR; Williamson, C; Whitworth, J; Humphray, S; Bentley, DR; NIHR BioResource for the 100,000 Genomes Project, .; Kingston, N; Walker, N; Bradley, JR; Ashford, S; Penkett, CJ; Freson, K; Stirrups, KE; Raymond, FL; Ouwehand, WH; - view fewer (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature , 583 pp. 96-102. 10.1038/s41586-020-2434-2.

Tuschl, K; Meyer, E; Valdivia, LE; Zhao, N; Dadswell, C; Abdul-Sada, A; Hung, CY; ... Wilson, SW; + view all Tuschl, K; Meyer, E; Valdivia, LE; Zhao, N; Dadswell, C; Abdul-Sada, A; Hung, CY; Simpson, MA; Chong, WK; Jacques, TS; Woltjer, RL; Eaton, S; Gregory, A; Sanford, L; Kara, E; Houlden, H; Cuno, SM; Prokisch, H; Valletta, L; Tiranti, V; Younis, R; Maher, ER; Spencer, J; Straatman-Iwanowska, A; Gissen, P; Selim, LA; Pintos-Morell, G; Coroleu-Lletget, W; Mohammad, SS; Yoganathan, S; Dale, RC; Thomas, M; Rihel, J; Bodamer, OA; Enns, CA; Hayflick, SJ; Clayton, PT; Mills, PB; Kurian, MA; Wilson, SW; - view fewer (2016) Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature Communications , 7 , Article 11601. 10.1038/ncomms11601.

Tutelman, Perri R; MacKenzie, Nicole E; Chambers, Christine T; Coffman, Siobhan; Cornelissen, Laura; Cormier, Brittany; Higgins, Kristen S; ... Walker, Suellen; + view all Tutelman, Perri R; MacKenzie, Nicole E; Chambers, Christine T; Coffman, Siobhan; Cornelissen, Laura; Cormier, Brittany; Higgins, Kristen S; Phinney, Jackie; Blankenburg, Markus; Walker, Suellen; - view fewer (2024) Quantitative sensory testing for assessment of somatosensory function in children and adolescents: a scoping review. PAIN Reports , 9 (3) , Article e1151. 10.1097/pr9.0000000000001151.

Twomey, DM; Ahearne, C; Hennessy, E; Wrigley, C; De Haan, M; Marlow, N; Murray, DM; (2020) Concurrent validity of a touchscreen application to detect early cognitive delay. Archives of Disease in Childhood 10.1136/archdischild-2019-318262. (In press).

Twomey, DM; Wrigley, C; Ahearne, C; Murphy, R; De Haan, M; Marlow, N; Murray, DM; (2018) Feasibility of using touch screen technology for early cognitive assessment in children. Archives of Disease in Childhood , 103 (9) pp. 853-858. 10.1136/archdischild-2017-314010.

Tye, C; Thomas, LE; Sampson, JR; Lewis, J; O'Callaghan, F; Yates, JRW; Bolton, PF; (2018) Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open , 3 (2) pp. 276-280. 10.1002/epi4.12111.

Tyler, AL; Mahoney, JM; Richard, GR; Holmes, GL; Lenck-Santini, P-P; Scott, RC; (2012) Functional Network Changes in Hippocampal CA1 after Status Epilepticus Predict Spatial Memory Deficits in Rats. JOURNAL OF NEUROSCIENCE , 32 (33) 11365 - 11376. 10.1523/JNEUROSCI.1516-12.2012.

U

Uchitel, J; Wallace, K; Tran, L; Abrahamsen, T; Hunanyan, A; Prange, L; Jasien, J; ... Mikati, MA; + view all Uchitel, J; Wallace, K; Tran, L; Abrahamsen, T; Hunanyan, A; Prange, L; Jasien, J; Caligiuri, L; Pratt, M; Rikard, B; Fons, C; De Grandis, E; Vezyroglou, A; Heinzen, EL; Goldstein, DB; Vavassori, R; Papadopoulou, MT; Cocco, I; Moré, R; Duke AHC Research Group, .; French AHC Consortium, .; Arzimanoglou, A; Panagiotakaki, E; Mikati, MA; - view fewer (2021) Alternating hemiplegia of childhood: evolution over time and mouse model corroboration. Brain Communications , 3 (3) , Article fcab128. 10.1093/braincomms/fcab128.

Ullmann, U; D’Argenzio, L; Mathur, S; Whyte, T; Quinlivan, R; Longman, C; Farrugia, ME; ... Muntoni, F; + view all Ullmann, U; D’Argenzio, L; Mathur, S; Whyte, T; Quinlivan, R; Longman, C; Farrugia, ME; Manzur, A; Willis, T; Jungbluth, H; Pitt, M; Cirak, S; UK10K consortium, .; Feng, L; Stewart, W; Mein, R; Phadke, R; Sewry, C; Sarkozy, A; Muntoni, F; - view fewer (2018) ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects. Neuromuscular Disorders , 28 (9) pp. 741-749. 10.1016/j.nmd.2018.05.012.

ULLSPERGER, P; BALDEWEG, T; (1991) INTERPRETATION OF P300 AMPLITUDE CHANGES BY THE USE OF ADAPTATION LEVEL THEORY. BEHAV BRAIN SCI , 14 (4) 733 - 734. 10.1017/S0140525X00072216.

ULLSPERGER, P; BALDEWEG, T; (1990) SENSORY ADAPTATION AND MISMATCH NEGATIVITY. BEHAV BRAIN SCI , 13 (2) 255 - 256. 10.1017/S0140525X00078651.

Unni, MNM; Elfeky, R; Rao, K; Nademi, Z; Chiesa, R; Amrolia, P; Skinner, R; ... Slatter, MA; + view all Unni, MNM; Elfeky, R; Rao, K; Nademi, Z; Chiesa, R; Amrolia, P; Skinner, R; Slater, O; Worth, A; Flood, T; Abinun, M; Hambleton, S; Qasim, W; Gaspar, HB; Cant, AJ; Gennery, AR; Veys, P; Slatter, MA; - view fewer (2018) Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience. Journal of Allergy and Clinical Immunology , 141 (6) 2319-2321.e1. 10.1016/j.jaci.2018.02.038.

Urciuolo, A; Urbani, L; Perin, S; Maghsoudlou, PL; Scottoni, F; Gjinovci, A; Collins-Hooper, H; ... De Coppi, P; + view all Urciuolo, A; Urbani, L; Perin, S; Maghsoudlou, PL; Scottoni, F; Gjinovci, A; Collins-Hooper, H; Loukogeorgakis, S; Tyraskis, A; Torelli, S; Germinario, E; Fallas, M; Julia-Vilella, C; Eaton, SJ; Blaauw, B; Patel, K; De Coppi, P; - view fewer (2018) Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration. Scientific Reports , 8 , Article 8398. 10.1038/s41598-018-26371-y.

Usher, I; Hellyer, P; Lee, KS; Leech, R; Hampshire, A; Alamri, A; Chari, A; Usher, I; Hellyer, P; Lee, KS; Leech, R; Hampshire, A; Alamri, A; Chari, A; Brainbook, .; - view fewer (2021) "It's not rocket science" and "It's not brain surgery"-"It's a walk in the park": prospective comparative study. BMJ , 375 , Article e067883. 10.1136/bmj-2021-067883.

V

Vakharia, VN; Smith, L; Tahir, Z; Sparks, R; Ourselin, S; Tucker, S; Thompson, D; (2021) Occipitocervical instrumented fixation utilising patient-specific C2 3D-printed spinal screw trajectory guides in complex paediatric skeletal dysplasia. Child's Nervous System , 37 pp. 2643-2650. 10.1007/s00381-021-05260-2.

van Capelle, CI; van der Meijden, JC; van den Hout, JMP; Jaeken, J; Baethmann, M; Voit, T; Kroos, MA; ... van der Ploeg, AT; + view all van Capelle, CI; van der Meijden, JC; van den Hout, JMP; Jaeken, J; Baethmann, M; Voit, T; Kroos, MA; Derks, TGJ; Rubio-Gozalbo, ME; Willemsen, MA; Lachmann, RH; Mengel, E; Michelakakis, H; de Jongste, JC; Reuser, AJJ; van der Ploeg, AT; - view fewer (2016) Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases , 11 , Article 65. 10.1186/s13023-016-0442-y.

van Dalen, Thijs; Kirkham, Jessica F; Chari, Aswin; D'Arco, Felice; Moeller, Friederike; Eltze, Christin; Cross, J Helen; ... Thornton, Rachel C; + view all van Dalen, Thijs; Kirkham, Jessica F; Chari, Aswin; D'Arco, Felice; Moeller, Friederike; Eltze, Christin; Cross, J Helen; Tisdall, Martin M; Thornton, Rachel C; - view fewer (2024) Characterizing Frontal Lobe Seizure Semiology in Children. Annals of Neurology , 95 (6) pp. 1138-1148. 10.1002/ana.26922.

van den Berg, ME; Warren, HR; Cabrera, CP; Verweij, N; Mifsud, B; Haessler, J; Bihlmeyer, NA; ... Munroe, PB; + view all van den Berg, ME; Warren, HR; Cabrera, CP; Verweij, N; Mifsud, B; Haessler, J; Bihlmeyer, NA; Fu, Y-P; Weiss, S; Lin, HJ; Grarup, N; Li-Gao, R; Pistis, G; Shah, N; Brody, JA; Müller-Nurasyid, M; Lin, H; Mei, H; Smith, AV; Lyytikäinen, L-P; Hall, LM; van Setten, J; Trompet, S; Prins, BP; Isaacs, A; Radmanesh, F; Marten, J; Entwistle, A; Kors, JA; Silva, CT; Alonso, A; Bis, JC; de Boer, R; de Haan, HG; de Mutsert, R; Dedoussis, G; Dominiczak, AF; Doney, ASF; Ellinor, PT; Eppinga, RN; Felix, SB; Guo, X; Hagemeijer, Y; Hansen, T; Harris, TB; Heckbert, SR; Huang, PL; Hwang, S-J; Kähönen, M; Kanters, JK; Kolcic, I; Launer, LJ; Li, M; Yao, J; Linneberg, A; Liu, S; Macfarlane, PW; Mangino, M; Morris, AD; Mulas, A; Murray, AD; Nelson, CP; Orrú, M; Padmanabhan, S; Peters, A; Porteous, DJ; Poulter, N; Psaty, BM; Qi, L; Raitakari, OT; Rivadeneira, F; Roselli, C; Rudan, I; Sattar, N; Sever, P; Sinner, MF; Soliman, EZ; Spector, TD; Stanton, AV; Stirrups, KE; Taylor, KD; Tobin, MD; Uitterlinden, A; Vaartjes, I; Hoes, AW; van der Meer, P; Völker, U; Waldenberger, M; Xie, Z; Zoledziewska, M; Tinker, A; Polasek, O; Rosand, J; Jamshidi, Y; van Duijn, CM; Zeggini, E; Wouter Jukema, J; Asselbergs, FW; Samani, NJ; Lehtimäki, T; Gudnason, V; Wilson, J; Lubitz, SA; Kääb, S; Sotoodehnia, N; Caulfield, MJ; Palmer, CNA; Sanna, S; Mook-Kanamori, DO; Deloukas, P; Pedersen, O; Rotter, JI; Dörr, M; O'Donnell, CJ; Hayward, C; Arking, DE; Kooperberg, C; van der Harst, P; Eijgelsheim, M; Stricker, BH; Munroe, PB; - view fewer (2017) Discovery of novel heart rate-associated loci using the Exome Chip. Human Molecular Genetics , 26 (12) pp. 2346-2363. 10.1093/hmg/ddx113.

van den Bergen, JC; Hiller, M; Böhringer, S; Vijfhuizen, L; Ginjaar, I; Chaouch, A; Bushby, K; ... Spitali, P; + view all van den Bergen, JC; Hiller, M; Böhringer, S; Vijfhuizen, L; Ginjaar, I; Chaouch, A; Bushby, K; Straub, V; Scoto, M; Cirak, S; Claustres, M; Scotton, C; Passarelli, C; Lochmüller, H; Muntoni, F; Tuffery-Giraud, S; Ferlini, A; Aartsma-Rus, A; Verschuuren, J; 't Hoen, PAC; Spitali, P; - view fewer (2015) Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. Journal of Neurology, Neurosurgery and Psychiatry , 86 (10) 1060 -1065. 10.1136/jnnp-2014-308409.

van der Harst, P; van Setten, J; Verweij, N; Vogler, G; Franke, L; Maurano, MT; Wang, X; ... de Bakker, PIW; + view all van der Harst, P; van Setten, J; Verweij, N; Vogler, G; Franke, L; Maurano, MT; Wang, X; Leach, IM; Eijgelsheim, M; Sotoodehnia, N; Hayward, C; Sorice, R; Meirelles, O; Lyytikainen, L-P; Polasek, O; Tanaka, T; Arking, DE; Ulivi, S; Trompet, S; Mueller-Nurasyid, M; Smith, AV; Doerr, M; Kerr, KF; Magnani, JW; Del Greco, F; Zhang, W; Nolte, IM; Silva, CT; Padmanabhan, S; Tragante, V; Esko, T; Abecasis, GR; Adriaens, ME; Andersen, K; Barnett, P; Bis, JC; Bodmer, R; Buckley, BM; Campbell, H; Cannon, MV; Chakravarti, A; Chen, LY; Delitala, A; Devereux, RB; Doevendans, PA; Dominiczak, AF; Ferrucci, L; Ford, I; Gieger, C; Harris, TB; Haugen, E; Heinig, M; Hernandez, DG; Hillege, HL; Hirschhorn, JN; Hofman, A; Hubner, N; Hwang, S-J; Iorio, A; Kahonen, M; Kellis, M; Kolcic, I; Kooner, IK; Kooner, JS; Kors, JA; Lakatta, EG; Lage, K; Launer, LJ; Levy, D; Lundby, A; Macfarlane, PW; May, D; Meitinger, T; Metspalu, A; Nappo, S; Naitza, S; Neph, S; Nord, AS; Nutile, T; Okin, PM; Olsen, JV; Oostra, BA; Penninger, JM; Pennacchio, LA; Pers, TH; Perz, S; Peters, A; Pinto, YM; Pfeufer, A; Pilia, MG; Pramstaller, PP; Prins, BP; Raitakari, OT; Raychaudhuri, S; Rice, KM; Rossin, EJ; Rotter, JI; Schafer, S; Schlessinger, D; Schmidt, CO; Sehmi, J; Sillje, HHW; Sinagra, G; Sinner, MF; Slowikowski, K; Soliman, EZ; Spector, TD; Spiering, W; Stamatoyannopoulos, JA; Stolk, RP; Strauch, K; Tan, S-T; Tarasov, KV; Trinh, B; Uitterlinden, AG; van den Boogaard, M; van Duijn, CM; van Gilst, WH; Viikari, JS; Visscher, PM; Vitart, V; Voelker, U; Waldenberger, M; Weichenberger, CX; Westra, H-J; Wijmenga, C; Wolffenbuttel, BH; Yang, J; Bezzina, CR; Munroe, PB; Snieder, H; Wright, AF; Rudan, I; Boyer, LA; Asselbergs, FW; van Veldhuisen, DJ; Stricker, BH; Psaty, BM; Ciullo, M; Sanna, S; Lehtimaki, T; Wilson, JF; Bandinelli, S; Alonso, A; Gasparini, P; Jukema, JW; Kaeaeb, S; Gudnason, V; Felix, SB; Heckbert, SR; de Boer, RA; Newton-Cheh, C; Hicks, AA; Chambers, JC; Jamshidi, Y; Visel, A; Christoffels, VM; Isaacs, A; Samani, NJ; de Bakker, PIW; - view fewer (2016) 52 Genetic Loci Influencing Myocardial Mass. Journal of the American College of Cardiology , 68 (13) pp. 1435-1448. 10.1016/j.jacc.2016.07.729.

van der Hoorn, A; Yan, J-L; Larkin, TJ; Boonzaier, NR; Matys, T; Price, SJ; (2016) Posttreatment Apparent Diffusion Coefficient Changes in the Periresectional Area in Patients with Glioblastoma. World Neurosurgery , 92 pp. 159-165. 10.1016/j.wneu.2016.04.129.

van der Louw, E; Aldaz, V; Harvey, J; Roan, M; van den Hurk, D; Cross, JH; Auvin, S; van der Louw, E; Aldaz, V; Harvey, J; Roan, M; van den Hurk, D; Cross, JH; Auvin, S; Review Group; - view fewer (2019) Optimal clinical management of children receiving ketogenic parenteral nutrition: a clinical practice guide. Developmental Medicine and Child Neurology 10.1111/dmcn.14306. (In press).

van der Louw, E; van den Hurk, D; Neal, E; Leiendecker, B; Fitzsimmon, G; Dority, L; Thompson, L; ... Cross, JH; + view all van der Louw, E; van den Hurk, D; Neal, E; Leiendecker, B; Fitzsimmon, G; Dority, L; Thompson, L; Marchio, M; Dudzinska, M; Dressler, A; Klepper, J; Auvin, S; Cross, JH; - view fewer (2016) Ketogenic diet guidelines for infants with refractory epilepsy. European Journal of Paediatric Neurology , 20 (6) pp. 798-809. 10.1016/j.ejpn.2016.07.009.

Van Dijken, BRJ; Van Laar, PJ; Li, C; Yan, J-L; Boonzaier, NR; Price, SJ; Van der Hoorn, A; (2019) Ventricle contact is associated with lower survival and increased peritumoral perfusion in glioblastoma. Journal of Neurosurgery , 131 (3) pp. 717-723. 10.3171/2018.5.JNS18340.

van Dijken, BRJ; Yan, J-L; Boonzaier, NR; Li, C; van Laar, PJ; van der Hoorn, A; Price, SJ; (2017) Subventricular Zone Involvement Characterized by Diffusion Tensor Imaging in Glioblastoma. World Neurosurgery , 105 pp. 697-701. 10.1016/j.wneu.2017.06.075.

van Rijn, Rick R; Stafrace, Samuel; Arthurs, Owen J; Rosendahl, Karen; (2020) Non-radiologist-performed point-of-care ultrasonography in paediatrics - European Society of Paediatric Radiology position paper. Pediatric Radiology , 51 (1) pp. 161-167. 10.1007/s00247-020-04843-6.

van Rijn, RR; Stafrace, S; Arthurs, OJ; Rosendahl, K; (2021) Point-of-care ultrasonography in paediatrics: reply to Parri et al. Pediatric Radiology , 51 (7) pp. 1273-1274. 10.1007/s00247-021-05078-9.

van Setten, J; Brody, JA; Jamshidi, Y; Swenson, BR; Butler, AM; Campbell, H; Del Greco, FM; ... Sotoodehnia, N; + view all van Setten, J; Brody, JA; Jamshidi, Y; Swenson, BR; Butler, AM; Campbell, H; Del Greco, FM; Evans, DS; Gibson, Q; Gudbjartsson, DF; Kerr, KF; Krijthe, BP; Lyytikäinen, L-P; Müller, C; Müller-Nurasyid, M; Nolte, IM; Padmanabhan, S; Ritchie, MD; Robino, A; Smith, AV; Steri, M; Tanaka, T; Teumer, A; Trompet, S; Ulivi, S; Verweij, N; Yin, X; Arnar, DO; Asselbergs, FW; Bader, JS; Barnard, J; Bis, J; Blankenberg, S; Boerwinkle, E; Bradford, Y; Buckley, BM; Chung, MK; Crawford, D; den Hoed, M; Denny, JC; Dominiczak, AF; Ehret, GB; Eijgelsheim, M; Ellinor, PT; Felix, SB; Franco, OH; Franke, L; Harris, TB; Holm, H; Ilaria, G; Iorio, A; Kähönen, M; Kolcic, I; Kors, JA; Lakatta, EG; Launer, LJ; Lin, H; Lin, HJ; Loos, RJF; Lubitz, SA; Macfarlane, PW; Magnani, JW; Leach, IM; Meitinger, T; Mitchell, BD; Munzel, T; Papanicolaou, GJ; Peters, A; Pfeufer, A; Pramstaller, PP; Raitakari, OT; Rotter, JI; Rudan, I; Samani, NJ; Schlessinger, D; Silva Aldana, CT; Sinner, MF; Smith, JD; Snieder, H; Soliman, EZ; Spector, TD; Stott, DJ; Strauch, K; Tarasov, KV; Thorsteinsdottir, U; Uitterlinden, AG; Van Wagoner, DR; Völker, U; Völzke, H; Waldenberger, M; Jan Westra, H; Wild, PS; Zeller, T; Alonso, A; Avery, CL; Bandinelli, S; Benjamin, EJ; Cucca, F; Dörr, M; Ferrucci, L; Gasparini, P; Gudnason, V; Hayward, C; Heckbert, SR; Hicks, AA; Jukema, JW; Kääb, S; Lehtimäki, T; Liu, Y; Munroe, PB; Parsa, A; Polasek, O; Psaty, BM; Roden, DM; Schnabel, RB; Sinagra, G; Stefansson, K; Stricker, BH; van der Harst, P; van Duijn, CM; Wilson, JF; Gharib, SA; de Bakker, PIW; Isaacs, A; Arking, DE; Sotoodehnia, N; - view fewer (2018) PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nature Communications , 9 (1) , Article 2904. 10.1038/s41467-018-04766-9.

van Setten, J; Verweij, N; Mbarek, H; Niemeijer, MN; Trompet, S; Arking, DE; Brody, JA; ... Isaacs, A; + view all van Setten, J; Verweij, N; Mbarek, H; Niemeijer, MN; Trompet, S; Arking, DE; Brody, JA; Gandin, I; Grarup, N; Hall, LM; Hemerich, D; Lyytikäinen, L-P; Mei, H; Müller-Nurasyid, M; Prins, BP; Robino, A; Smith, AV; Warren, HR; Asselbergs, FW; Boomsma, DI; Caulfield, MJ; Eijgelsheim, M; Ford, I; Hansen, T; Harris, TB; Heckbert, SR; Hottenga, J-J; Iorio, A; Kors, JA; Linneberg, A; MacFarlane, PW; Meitinger, T; Nelson, CP; Raitakari, OT; Silva Aldana, CT; Sinagra, G; Sinner, M; Soliman, EZ; Stoll, M; Uitterlinden, A; van Duijn, CM; Waldenberger, M; Alonso, A; Gasparini, P; Gudnason, V; Jamshidi, Y; Kääb, S; Kanters, JK; Lehtimäki, T; Munroe, PB; Peters, A; Samani, NJ; Sotoodehnia, N; Ulivi, S; Wilson, JG; de Geus, EJC; Jukema, JW; Stricker, B; van der Harst, P; de Bakker, PIW; Isaacs, A; - view fewer (2019) Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. European Journal of Human Genetics 10.1038/s41431-018-0295-z. (In press).

van Wassenaer, EA; Daams, JG; Benninga, MA; Rosendahl, K; Koot, BGP; Stafrace, S; Arthurs, OJ; van Wassenaer, EA; Daams, JG; Benninga, MA; Rosendahl, K; Koot, BGP; Stafrace, S; Arthurs, OJ; van Rijn, RR; - view fewer (2021) Non-radiologist-performed abdominal point-of-care ultrasonography in paediatrics - a scoping review. Pediatric Radiology , 51 (8) pp. 1386-1399. 10.1007/s00247-021-04997-x.

Vanhatalo, Sampsa; Stevenson, Nathan J; Pressler, Ronit M; Abend, Nicholas S; Auvin, Stephane; Brigo, Francesco; Cilio, M Roberta; ... Boylan, Geraldine B; + view all Vanhatalo, Sampsa; Stevenson, Nathan J; Pressler, Ronit M; Abend, Nicholas S; Auvin, Stephane; Brigo, Francesco; Cilio, M Roberta; Hahn, Cecil D; Hartmann, Hans; Hellstrom-Westas, Lena; Inder, Terrie E; Moshe, Solomon L; Nunes, Magda L; Shellhaas, Renee A; Vinayan, Kollencheri P; de Vries, Linda S; Wilmshurst, Jo M; Yozawitz, Elissa; Boylan, Geraldine B; - view fewer (2022) Why monitor the neonatal brain-that is the important question. Pediatric Research 10.1038/s41390-022-02040-9. (In press).

Vargha-Khadem, F; Cacucci, F; (2021) A brief history of developmental amnesia. Neuropsychologia , 150 , Article 107689. 10.1016/j.neuropsychologia.2020.107689.

Vargha-Khadem, F; Hemispheric Specialization in Congenitally Deaf and Hearing Children and Adolescents. UNSPECIFIED thesis , UNSPECIFIED.

Varley, James A; Champsas, Dimitrios; Prossor, Timothy; Pontillo, Giuseppe; Abdel-Mannan, Omar; Khaleeli, Zhaleh; Petzold, Axel; ... Ciccarelli, Olga; + view all Varley, James A; Champsas, Dimitrios; Prossor, Timothy; Pontillo, Giuseppe; Abdel-Mannan, Omar; Khaleeli, Zhaleh; Petzold, Axel; Toosy, Ahmed T; Trip, Sachid A; Wilson, Heather; Mallon, Dermot H; Hemingway, Cheryl; Mankad, Kshitij; Loon Chou, Michael K; Church, Andrew J; Hart, Melanie S; Lunn, Michael P; Brownlee, Wallace; Hacohen, Yael; Ciccarelli, Olga; - view fewer (2024) Validation of the 2023 International Diagnostic Criteria for MOGAD in a Selected Cohort of Adults and Children. Neurology , 103 (1) 10.1212/WNL.0000000000209321.

Vasilica, AM; Winsor, A; Chari, A; Scott, R; Baldeweg, T; Tisdall, M; (2023) The influence of disease course and surgery on quality of life in children with focal cortical dysplasia and long-term epilepsy-associated tumours: A systematic review and meta-analysis. Epilepsy Research , 192 , Article 107132. 10.1016/j.eplepsyres.2023.107132. (In press).

Veale, D; Serfaty, M; Humpston, C; Papageorgiou, A; Markham, S; Hodsoll, J; Young, AH; (2021) Out-patient triple chronotherapy for the rapid treatment and maintenance of response in depression: feasibility and pilot randomised controlled trial. BJPsych Open , 7 (6) , Article e220. 10.1192/bjo.2021.1044.

Vegda, H; Krishnan, V; Variane, G; Bagayi, V; Ivain, P; Pressler, RM; (2022) Neonatal Seizures—Perspective in Low-and Middle-Income Countries. Indian Journal of Pediatrics 10.1007/s12098-021-04039-2.

Veggiotti, P; Józwiak, S; Kirkham, F; Moreira, J; Pereira, A; Ikedo, F; Gama, H; (2022) Long-term therapeutic effect of eslicarbazepine acetate in children: An open-label extension of a cognition study in children aged 6-16 years. Epilepsy & Behavior , 127 , Article 108515. 10.1016/j.yebeh.2021.108515. (In press).

Ventura, Soraia; Mathieson, Sean R; O'Sullivan, Marc P; O'Toole, John M; Livingstone, Vicki; Pressler, Ronit M; Dempsey, Eugene M; ... Boylan, Geraldine B; + view all Ventura, Soraia; Mathieson, Sean R; O'Sullivan, Marc P; O'Toole, John M; Livingstone, Vicki; Pressler, Ronit M; Dempsey, Eugene M; Murray, Deirdre M; Boylan, Geraldine B; - view fewer (2023) Parent-led massage and sleep EEG for term-born infants: A randomized controlled parallel-group study. Developmental Medicine & Child Neurology (DMCN) 10.1111/dmcn.15565. (In press).

Verbruggen, SW; Kainz, B; Shelmerdine, SC; Arthurs, OJ; Hajnal, JV; Rutherford, MA; Phillips, ATM; Verbruggen, SW; Kainz, B; Shelmerdine, SC; Arthurs, OJ; Hajnal, JV; Rutherford, MA; Phillips, ATM; Nowlan, NC; - view fewer (2018) Altered biomechanical stimulation of the developing hip joint in presence of hip dysplasia risk factors. Journal of Biomechanics , 78 pp. 1-9. 10.1016/j.jbiomech.2018.07.016.

Verbruggen, SW; Kainz, B; Shelmerdine, SC; Hajnal, JV; Rutherford, MA; Arthurs, OJ; Phillips, ATM; Verbruggen, SW; Kainz, B; Shelmerdine, SC; Hajnal, JV; Rutherford, MA; Arthurs, OJ; Phillips, ATM; Nowlan, NC; - view fewer (2018) Stresses and strains on the human fetal skeleton during development. Interface , 15 (138) , Article 20170593. 10.1098/rsif.2017.0593.

Verhaart, IEC; Johnson, A; Thakrar, S; Vroom, E; De Angelis, F; Muntoni, F; Aartsma-Rus, AM; Verhaart, IEC; Johnson, A; Thakrar, S; Vroom, E; De Angelis, F; Muntoni, F; Aartsma-Rus, AM; Niks, EH; - view fewer (2019) Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective. Neuromuscular Disorders 10.1016/j.nmd.2019.06.004. (In press).

Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; ... Zuberi, S; + view all Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; Kurian, M; Livingston, J; McFarland, R; Pal, S; Pike, M; Robinson, R; Wassmer, E; Zuberi, S; - view fewer (2018) Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies? Archives of Disease in Childhood 10.1136/archdischild-2018-315458. (In press).

Verriotis, M; Peters, J; Sorger, C; Walker, SM; (2021) Phenotyping peripheral neuropathic pain in male and female adolescents. Pain , 162 (6) pp. 1732-1748. 10.1097/j.pain.0000000000002172.

Verriotis, MA; Walker, SM; (2021) Neuropathic pain in children. In: Stevens, BJ and Hathway, G and Zempsky, WT, (eds.) Oxford Textbook of Pediatric Pain. Oxford University Press: Oxford, UK.

Verriotis, Madeleine; Sorger, Clarissa; Peters, Judy; Ayoub, Lizbeth J; Seunarine, Kiran K; Clark, Chris A; Walker, Suellen M; Verriotis, Madeleine; Sorger, Clarissa; Peters, Judy; Ayoub, Lizbeth J; Seunarine, Kiran K; Clark, Chris A; Walker, Suellen M; Moayedi, Massieh; - view fewer (2022) Amygdalar Functional Connectivity Differences Associated With Reduced Pain Intensity in Pediatric Peripheral Neuropathic Pain. Frontiers in Pain Research , 3 , Article 918766. 10.3389/fpain.2022.918766.

Verriotis, M; Chang, P; Fitzgerald, M; Fabrizi, L; (2016) The development of the nociceptive brain. Neuroscience , 338 pp. 207-219. 10.1016/j.neuroscience.2016.07.026.

Verriotis, M; Fabrizi, L; Lee, A; Cooper, RJ; Fitzgerald, M; Meek, J; (2016) Mapping cortical responses to somatosensory stimuli in human infants with simultaneous near-infrared spectroscopy and event-related potential recording. eNeuro 10.1523/ENEURO.0026-16.2016.

Verriotis, M; Fabrizi, L; Lee, A; Ledwidge, S; Meek, J; Fitzgerald, M; (2015) Cortical activity evoked by inoculation needle prick in infants up to one-year old. Pain , 156 (2) 222 - 230. 10.1097/01.j.pain.0000460302.56325.0c.

Verriotis, M; Jones, L; Whitehead, K; Laudiano-Dray, M; Panayotidis, I; Patel, H; Meek, J; ... Fitzgerald, M; + view all Verriotis, M; Jones, L; Whitehead, K; Laudiano-Dray, M; Panayotidis, I; Patel, H; Meek, J; Fabrizi, L; Fitzgerald, M; - view fewer (2018) The distribution of pain activity across the human neonatal brain is sex dependent. NeuroImage , 178 pp. 69-77. 10.1016/j.neuroimage.2018.05.030.

Verriotis, M; Moayedi, M; Sorger, C; Peters, J; Seunarine, K; Clark, CA; Walker, SM; (2020) The feasibility and acceptability of research magnetic resonance imaging in adolescents with moderate-severe neuropathic pain. PAIN Reports , 5 (1) , Article e807. 10.1097/PR9.0000000000000807.

Veyckemans, Francis; Sola, Chrystelle; De Graaff, Jurgen C; Becke-Jakob, Karin; Zielinska, Marzena; Hansen, Tom G; Walker, Suellen M; ... Habre, Walid; + view all Veyckemans, Francis; Sola, Chrystelle; De Graaff, Jurgen C; Becke-Jakob, Karin; Zielinska, Marzena; Hansen, Tom G; Walker, Suellen M; Disma, Nicola; Habre, Walid; - view fewer (2023) Epidemiology and outcomes of inguinal surgery with or without regional anaesthesia in neonates and small infants: A subanalysis of the NECTARINE database. European Journal of Anaesthesiology (EJA) , 40 (12) pp. 956-959. 10.1097/eja.0000000000001870.

Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A; Holder-Espinasse, Muriel; Fry, Andrew E; ... Balasubramanian, Meena; + view all Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A; Holder-Espinasse, Muriel; Fry, Andrew E; Nemeth, Andrea Hilary; Tofaris, George K; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R; Splitt, Miranda; Turnpenny, Peter D; Demetriou, Demetria; Koopmann, Tamara T; Ruivenkamp, Claudia AL; Agrawal, Pankaj B; Carr, Lucinda; Clowes, Virginia; Ghali, Neeti; Holder, Susan Elizabeth; Radley, Jessica; Male, Alison; Sisodiya, Sanjay M; Kurian, Manju A; Cross, J Helen; Balasubramanian, Meena; - view fewer (2022) The Phenotypic Continuum of ATPLA3-Related Disorders. Neurology , 99 (14) e1511-e1526. 10.1212/WNL.0000000000200927.

Vezyroglou, Aikaterini; Hebden, Peter; De Roever, Isabel; Thornton, Rachel; Mitra, Subhabrata; Worley, Alan; Alves, Mariana; ... Tachtsidis, Ilias; + view all Vezyroglou, Aikaterini; Hebden, Peter; De Roever, Isabel; Thornton, Rachel; Mitra, Subhabrata; Worley, Alan; Alves, Mariana; Dean, Emma; Cross, Judith Helen; Tachtsidis, Ilias; - view fewer (2022) Broadband-NIRS System Identifies Epileptic Focus in a Child with Focal Cortical Dysplasia—A Case Study. Metabolites , 12 (3) , Article 260. 10.3390/metabo12030260.

Vezyroglou, A; Varadkar, S; Bast, T; Hirsch, E; Strobl, K; Harvey, AS; Epilepsy Surgery in SCN1A Study Group; ... Cross, JH; + view all Vezyroglou, A; Varadkar, S; Bast, T; Hirsch, E; Strobl, K; Harvey, AS; Epilepsy Surgery in SCN1A Study Group; Scheffer, IE; Sisodiya, SM; Cross, JH; - view fewer (2020) Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? Developmental Medicine & Child Neurology 10.1111/dmcn.14588. (In press).

Vezyroglou, K; Cross, JH; (2016) Targeted Treatment in Childhood Epilepsy Syndromes. Current Treatment Options in Neurology , 18 (6) , Article 29. 10.1007/s11940-016-0407-4.

Vicari, S; Piccini, G; Mercuri, E; Battini, R; Chieffo, D; Bulgheroni, S; Pecini, C; ... Alfieri, P; + view all Vicari, S; Piccini, G; Mercuri, E; Battini, R; Chieffo, D; Bulgheroni, S; Pecini, C; Lucibello, S; Lenzi, S; Moriconi, F; Pane, M; D'Amico, A; Astrea, G; Baranello, G; Riva, D; Cioni, G; Alfieri, P; - view fewer (2018) Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? PLoS One , 13 (1) , Article e0191164. 10.1371/journal.pone.0191164.

Vigevano, F; Kirkham, FJ; Wilken, B; Raspall-Chaure, M; Grebla, R; Lee, D; Werner-Kiechle, T; Vigevano, F; Kirkham, FJ; Wilken, B; Raspall-Chaure, M; Grebla, R; Lee, D; Werner-Kiechle, T; Lagae, L; - view fewer (2018) Effect of rescue medication on seizure duration in non-institutionalized children with epilepsy. European Journal of Paediatric Neurology , 22 (1) pp. 56-63. 10.1016/j.ejpn.2017.07.017.

Villalobos, Elisa; Mehra, Priyanka; Diaz-Manera, Jordi; (2025) From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation. The Journal of Physiology , Article JP288924. 10.1113/JP288924.

Villalobos, Elisa; Miguelez-Crespo, Allende; Morgan, Ruth A; Ivatt, Lisa; Paul, Mhairi; Simpson, Joanna P; Homer, Natalie ZM; ... Nixon, Mark; + view all Villalobos, Elisa; Miguelez-Crespo, Allende; Morgan, Ruth A; Ivatt, Lisa; Paul, Mhairi; Simpson, Joanna P; Homer, Natalie ZM; Kurian, Dominic; Aguilar, Judit; Kline, Rachel A; Wishart, Thomas M; Morton, Nicholas M; Stimson, Roland H; Andrew, Ruth; Walker, Brian R; Nixon, Mark; - view fewer (2024) ATP-binding cassette family C member 1 constrains metabolic responses to high-fat diet in male mice. Journal of Endocrinology , 262 (2) , Article e240024. 10.1530/JOE-24-0024.

Villaluz, MM; Lomax, LB; Jadhav, T; Cross, JH; Scheffer, IE; (2018) The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy. Developmental Medicine and Child Neurology , 60 (7) pp. 718-723. 10.1111/dmcn.13687.

Vincent, AE; White, K; Davey, T; Philips, J; Ogden, RT; Lawess, C; Warren, C; ... Picard, M; + view all Vincent, AE; White, K; Davey, T; Philips, J; Ogden, RT; Lawess, C; Warren, C; Hall, MG; Ng, YS; Falkous, G; Holden, T; Deehan, D; Taylor, RW; Turnbull, DM; Picard, M; - view fewer (2019) Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports , 26 (4) 996-1009.e4. 10.1016/j.celrep.2019.01.010.

Vogt, VL; Äikiä, M; Del Barrio, A; Boon, P; Borbély, C; Bran, E; Braun, K; ... E-PILEPSY consortium, .; + view all Vogt, VL; Äikiä, M; Del Barrio, A; Boon, P; Borbély, C; Bran, E; Braun, K; Carette, E; Clark, M; Cross, JH; Dimova, P; Fabo, D; Foroglou, N; Francione, S; Gersamia, A; Gil-Nagel, A; Guekht, A; Harrison, S; Hecimovic, H; Heminghyt, E; Hirsch, E; Javurkova, A; Kälviäinen, R; Kavan, N; Kelemen, A; Kimiskidis, VK; Kirschner, M; Kleitz, C; Kobulashvili, T; Kosmidis, MH; Kurtish, SY; Lesourd, M; Ljunggren, S; Lossius, MI; Malmgren, K; Mameniskiené, R; Martin-Sanfilippo, P; Marusic, P; Miatton, M; Özkara, Ç; Pelle, F; Rubboli, G; Rudebeck, S; Ryvlin, P; van Schooneveld, M; Schmid, E; Schmidt, P-M; Seeck, M; Steinhoff, BJ; Shavel-Jessop, S; Tarta-Arsene, O; Trinka, E; Viggedal, G; Wendling, A-S; Witt, J-A; Helmstaedter, C; E-PILEPSY consortium, .; - view fewer (2017) Current standards of neuropsychological assessment in epilepsy surgery centers across Europe. Epilepsia , 58 (3) pp. 343-355. 10.1111/epi.13646.

Volkers, N; Wiebe, S; Asadi-Pooya, AA; Balagura, G; Gómez-Iglesias, P; Guekht, A; Hall, J; ... Cross, JH; + view all Volkers, N; Wiebe, S; Asadi-Pooya, AA; Balagura, G; Gómez-Iglesias, P; Guekht, A; Hall, J; Ikeda, A; Jetté, N; Kishk, NA; Murphy, P; Perucca, E; Pérez-Poveda, JC; Sanya, EO; Trinka, E; Zhou, D; Cross, JH; - view fewer (2021) The initial impact of the SARS-CoV-2 pandemic on epilepsy research. Epilepsia Open 10.1002/epi4.12471. (In press).

Volpatti, Jonathan R; Ghahramani-Seno, Mehdi M; Mansat, Mélanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J; Chater-Diehl, Eric; ... Dowling, James J; + view all Volpatti, Jonathan R; Ghahramani-Seno, Mehdi M; Mansat, Mélanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J; Chater-Diehl, Eric; Celik, Alper; Pannia, Emanuela; Froment, Carine; Combes-Soia, Lucie; Maani, Nika; Yuki, Kyoko E; Chicanne, Gaëtan; Uusküla-Reimand, Liis; Monis, Simon; Alvi, Sana Akhtar; Genetti, Casie A; Payrastre, Bernard; Beggs, Alan H; Bonnemann, Carsten G; Muntoni, Francesco; Wilson, Michael D; Weksberg, Rosanna; Viaud, Julien; Dowling, James J; - view fewer (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica 10.1007/s00401-022-02468-7. (In press).

W

Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; David, Anna L; - view fewer (2023) Fetal gene therapy. Journal of Inherited Metabolic Disease 10.1002/jimd.12659. (In press).

Wadman, R; De Amicis, R; Brusa, C; Battezzati, A; Bertoli, S; Davis, T; Main, M; ... Muntoni, F; + view all Wadman, R; De Amicis, R; Brusa, C; Battezzati, A; Bertoli, S; Davis, T; Main, M; Manzur, A; Mastella, C; Munot, P; Imbrigiotta, N; Schottlaender, L; Sarkozy, A; Trucco, F; Baranello, G; Scoto, M; Muntoni, F; - view fewer (2021) Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. Neuromuscular Disorders , 31 (2) pp. 101-112. 10.1016/j.nmd.2020.12.007.

Wadsworth, I; Jaki, T; Sills, GJ; Appleton, R; Cross, JH; Marson, AG; Martland, T; ... Hampson, LV; + view all Wadsworth, I; Jaki, T; Sills, GJ; Appleton, R; Cross, JH; Marson, AG; Martland, T; McLellan, A; Smith, PEM; Pellock, JM; Hampson, LV; - view fewer (2016) Clinical Drug Development in Epilepsy Revisited: A Proposal for a New Paradigm Streamlined Using Extrapolation. CNS DRUGS , 30 (11) pp. 1011-1017. 10.1007/s40263-016-0383-y.

Waelchli, R; Aylett, SE; Atherton, D; Thompson, DJ; Chong, WK; Kinsler, VA; (2015) Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. British Journal of Dermatology , 173 (3) pp. 739-750. 10.1111/bjd.13898.

Wagner, KR; Guglieri, M; Ramaiah, SK; Charnas, L; Marraffino, S; Binks, M; Vaidya, VS; ... Muntoni, F; + view all Wagner, KR; Guglieri, M; Ramaiah, SK; Charnas, L; Marraffino, S; Binks, M; Vaidya, VS; Palmer, J; Goldstein, R; Muntoni, F; - view fewer (2021) Safety and disease monitoring biomarkers in Duchenne muscular dystrophy: results from a Phase II trial. Biomarkers in Medicine , 15 (15) pp. 1389-1396. 10.2217/bmm-2021-0222.

Wagstyl, K; Whitaker, K; Raznahan, A; Seidlitz, J; Vertes, PE; Foldes, S; Humphreys, Z; ... Adler, S; + view all Wagstyl, K; Whitaker, K; Raznahan, A; Seidlitz, J; Vertes, PE; Foldes, S; Humphreys, Z; Hu, W; Mo, J; Likeman, M; Davies, S; Lenge, M; Cohen, NT; Tang, Y; Wang, S; Ripart, M; Chari, A; Tisdall, M; Bargallo, N; Conde-Blanco, E; Carlos Pariente, J; Pascual-Diaz, S; Delgado-Martinez, I; Perez-Enriquez, C; Lagorio, I; Abela, E; Mullatti, N; O'Muircheartaigh, J; Vecchiato, K; Liu, Y; Caligiuri, M; Sinclair, B; Vivash, L; Willard, A; Kandasamy, J; McLellan, A; Sokol, D; Semmelroch, M; Kloster, A; Opheim, G; Yasuda, C; Zhang, K; Hamandi, K; Barba, C; Guerrini, R; Gaillard, WD; You, X; Wang, I; Gonzalez-Ortiz, S; Severino, M; Striano, P; Tortora, D; Kalviainen, R; Gambardella, A; Labate, A; Desmond, P; Lui, E; O'Brien, T; Shetty, J; Jackson, G; Duncan, JS; Winston, GP; Pinborg, L; Cendes, F; Cross, JH; Baldeweg, T; Adler, S; - view fewer (2021) Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study. Epilespia 10.1111/epi.17130.

Wagstyl, K; Adler, S; Pimpel, B; Chari, A; Seunarine, K; Lorio, S; Thornton, R; ... Tisdall, M; + view all Wagstyl, K; Adler, S; Pimpel, B; Chari, A; Seunarine, K; Lorio, S; Thornton, R; Baldeweg, T; Tisdall, M; - view fewer (2020) Planning stereoelectroencephalography using automated lesion detection: Retrospective feasibility study. Epilepsia 10.1111/epi.16574. (In press).

Walger, Lennart; Adler, Sophie; Wagstyl, Konrad; Henschel, Leonie; David, Bastian; Borger, Valeri; Hattingen, Elke; ... Rüber, Theodor; + view all Walger, Lennart; Adler, Sophie; Wagstyl, Konrad; Henschel, Leonie; David, Bastian; Borger, Valeri; Hattingen, Elke; Vatter, Hartmut; Elger, Christian E; Baldeweg, Torsten; Rosenow, Felix; Urbach, Horst; Becker, Albert; Radbruch, Alexander; Surges, Rainer; Reuter, Martin; Cendes, Fernando; Wang, Zhong Irene; Huppertz, Hans-Jürgen; Rüber, Theodor; - view fewer (2023) Artificial Intelligence for the Detection of Focal Cortical Dysplasia: Challenges in Translating Algorithms into Clinical Practice. Epilepsia , 64 (5) pp. 1093-1112. 10.1111/epi.17522.

Walimbe, AS; Okuma, H; Joseph, S; Yang, T; Yonekawa, T; Hord, JM; Venzke, D; ... Campbell, KP; + view all Walimbe, AS; Okuma, H; Joseph, S; Yang, T; Yonekawa, T; Hord, JM; Venzke, D; Anderson, ME; Torelli, S; Manzur, A; Devereaux, M; Cuellar, M; Prouty, S; Ocampo Landa, S; Yu, L; Xiao, J; Dixon, JE; Muntoni, F; Campbell, KP; - view fewer (2020) POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan. Elife , 9 , Article e61388. 10.7554/eLife.61388. (In press).

Walker, Elise J; Kirkham, Fenella J; Stotesbury, Hanne; Dimitriou, Dagmara; Hood, Anna M; (2023) Tele-neuropsychological Assessment of Children and Young People: A Systematic Review. Journal of Pediatric Neuropsychology 10.1007/s40817-023-00144-6. (In press).

Walker, Elise Jade; Kirkham, Fenella Jane; Hood, Anna Marie; (2024) Decline in Processing Speed Tells Only Half the Story: Developmental Delay in Children Living with Sickle Cell Disease. Children , 11 (3) , Article 277. 10.3390/children11030277.

Walker, SM; (2021) Developmental Mechanisms of CPSP: Clinical Observations and Translational Laboratory Evaluations. Canadian Journal of Pain 10.1080/24740527.2021.1999796. (In press).

Walker, SM; Malkmus, S; Eddinger, K; Steinauer, J; Roberts, AJ; Shubayev, VI; Grafe, MR; ... Yaksh, TL; + view all Walker, SM; Malkmus, S; Eddinger, K; Steinauer, J; Roberts, AJ; Shubayev, VI; Grafe, MR; Powell, SB; Yaksh, TL; - view fewer (2022) Evaluation of neurotoxicity and long-term function and behavior following intrathecal 1 % 2-chloroprocaine in juvenile rats. NeuroToxicology , 88 pp. 155-167. 10.1016/j.neuro.2021.11.010.

Walker, SM; Selers, EL; Jay, MA; (2022) Intravenous opioids for chemotherapy-induced severe mucositis pain in children: Systematic review and single-center case series of management with patient- or nurse-controlled analgesia (PCA/NCA). Pediatric Anesthesia , 32 (1) pp. 17-34. 10.1111/pan.14324.

Walker, Suellen M; Engelhardt, Thomas; Ahmad, Nargis; Dobby, Nadine; UK Collaborators; NECTARINE Group Steering Committee; (2022) Perioperative critical events and morbidity associated with anesthesia in early life: Subgroup analysis of United Kingdom participation in the NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE) prospective multicenter observational study. Pediatric Anesthesia , 32 (7) pp. 801-814. 10.1111/pan.14457.

Walker, Suellen M; Peters, Judy; Verriotis, Madeleine; Farag, Fadila; Jay, Matthew A; Howard, Richard F; (2023) Sensitivity and specificity of a neuropathic screening tool (Self-report Leeds Assessment of Neuropathic Symptoms and Signs, S-LANSS) in adolescents with moderate-severe chronic pain. The Journal of Pain 10.1016/j.jpain.2023.09.006. (In press).

Walker, S; (2019) Early life pain—effects in the adult. Current Opinion in Physiology , 11 pp. 16-24. 10.1016/j.cophys.2019.04.011.

Walker, SM; (2020) Neuropathic pain in children: Steps towards improved recognition and management. EBioMedicine , 62 , Article 103124. 10.1016/j.ebiom.2020.103124.

Walker, SM; (2019) Long-term effects of neonatal pain. Seminars in Fetal and Neonatal Medicine , 24 (4) , Article 101005. 10.1016/j.siny.2019.04.005.

Walker, SM; (2017) Translational studies identify long-term impact of prior neonatal pain experience. Pain , 158 (4 (S1)) S29-S42. 10.1097/j.pain.0000000000000784.

Walker, SM; (2015) Pain after surgery in children: clinical recommendations. Current Opinion in Anesthesiology , 28 (5) pp. 570-576. 10.1097/ACO.0000000000000227.

Walker, SM; (2014) Overview of neurodevelopment and pain research, possible treatment targets. Best Practice and Research: Clinical Rheumatology , 28 (2) 213 - 228. 10.1016/j.berh.2014.03.007.

Walker, SM; (2014) Neonatal pain. Paediatric Anaesthesia , 24 (1) 39 - 48. 10.1111/pan.12293.

Walker, SM; Beggs, S; Baccei, ML; (2016) Persistent changes in peripheral and spinal nociceptive processing after early tissue injury. Experimental Neurology , 275 (Part 2) pp. 253-260. 10.1016/j.expneurol.2015.06.020.

Walker, SM; Davidson, A; (2016) The big research question: who decides? Pediatric Anesthesia , 26 (9) pp. 862-863. 10.1111/pan.12963.

Walker, SM; Fitzgerald, M; Hathway, GJ; (2015) Surgical Injury in the Neonatal Rat Alters the Adult Pattern of Descending Modulation from the Rostroventral Medulla. Anesthesiology , 122 (6) pp. 1391-1400. 10.1097/ALN.0000000000000658.

Walker, SM; Grafe, M; Yaksh, TL; (2012) Intrathecal clonidine in the neonatal rat: dose-dependent analgesia and evaluation of spinal apoptosis and toxicity. Anesthesia & Analgesia , 115 (2) 450 - 460. 10.1213/ANE.0b013e3182501a09.

Walker, SM; Melbourne, A; O'Reilly, H; Beckmann, J; Eaton-Rosen, Z; Ourselin, S; Marlow, N; (2018) Somatosensory function and pain in extremely preterm young adults from the UK EPICure cohort: sex-dependent differences and impact of neonatal surgery. British Journal of Anaesthesia 10.1016/j.bja.2018.03.035. (In press).

Walker, SM; Moriarty, O; Harrington, L; Beggs, S; (2018) Opioid analgesia and the somatosensory memory of neonatal surgical injury in the adult rat. British Journal of Anaesthesia , 121 (1) pp. 314-324. 10.1016/j.bja.2017.11.111.

Walker, SM; O'Reilly, H; Beckmann, J; Marlow, N; EPICure@19 Study Group, .; (2018) Conditioned pain modulation identifies altered sensitivity in extremely preterm young adult males and females. British Journal of Anaesthesia , 121 (3) pp. 636-646. 10.1016/j.bja.2018.05.066.

Walker, SM; Yaksh, TL; (2012) Neuraxial analgesia in neonates and infants: a review of clinical and preclinical strategies for the development of safety and efficacy data. Anesthesia & Analgesia , 115 (3) 638 - 662. 10.1213/ANE.0b013e31826253f2.

Wallace, S; Guo, D-C; Regalado, E; Mellor-Crummey, L; Bamshad, M; Nickerson, DA; Dauser, R; ... Milewicz, DM; + view all Wallace, S; Guo, D-C; Regalado, E; Mellor-Crummey, L; Bamshad, M; Nickerson, DA; Dauser, R; Hanchard, N; Marom, R; Martin, E; Berka, V; Sharina, I; Ganesan, V; Saunders, D; Morris, SA; Milewicz, DM; - view fewer (2016) Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. Clinical Genetics , 90 (4) pp. 351-360. 10.1111/cge.12739.

Walmsley, GL; Arechavala-Gomeza, V; Fernandez-Fuente, M; Burke, MM; Nagel, N; Holder, A; Stanley, R; ... Piercy, RJ; + view all Walmsley, GL; Arechavala-Gomeza, V; Fernandez-Fuente, M; Burke, MM; Nagel, N; Holder, A; Stanley, R; Chandler, K; Marks, SL; Muntoni, F; Shelton, GD; Piercy, RJ; - view fewer (2010) A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping. PLOS ONE , 5 (1) , Article e8647. 10.1371/journal.pone.0008647.

Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; ... Zhang, W; + view all Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; Xu, C; Futema, M; Lawson, D; Iotchkova, V; Schiffels, S; Hendricks, AE; Danecek, P; Li, R; Floyd, J; Wain, LV; Barroso, I; Humphries, SE; Hurles, ME; Zeggini, E; Barrett, JC; Plagnol, V; Richards, JB; Greenwood, CMT; Timpson, NJ; Durbin, R; Soranzo, N; Bala, S; Clapham, P; Coates, G; Cox, T; Daly, A; Danecek, P; Du, Y; Durbin, R; Edkins, S; Ellis, P; Flicek, P; Guo, X; Guo, X; Huang, L; Jackson, DK; Joyce, C; Keane, T; Kolb-Kokocinski, A; Langford, C; Li, Y; Liang, J; Lin, H; Liu, R; Maslen, J; McCarthy, S; Muddyman, D; Quail, MA; Stalker, J; Sun, J; Tian, J; Wang, G; Wang, J; Wang, Y; Wong, K; Zhang, P; Barroso, I; Birney, E; Boustred, C; Chen, L; Clement, G; Cocca, M; Danecek, P; Smith, GD; Day, INM; Day-Williams, A; Down, T; Dunham, I; Durbin, R; Evans, DM; Gaunt, TR; Geihs, M; Greenwood, CMT; Hart, D; Hendricks, AE; Howie, B; Huang, J; Hubbard, T; Hysi, P; Iotchkova, V; Jamshidi, Y; Karczewski, KJ; Kemp, JP; Lachance, G; Lawson, D; Lek, M; Lopes, M; MacArthur, DG; Marchini, J; Mangino, M; Mathieson, I; McCarthy, S; Memari, Y; Metrustry, S; Min, JL; Moayyeri, A; Muddyman, D; Northstone, K; Panoutsopoulou, K; Paternoster, L; Perry, JRB; Quaye, L; Richards, JB; Ring, S; Ritchie, GRS; Schiffels, S; Shihab, HA; Shin, S-Y; Small, KS; Artigas, MS; Soranzo, N; Southam, L; Spector, TD; St Pourcain, B; Surdulescu, G; Tachmazidou, I; Timpson, NJ; Tobin, MD; Valdes, AM; Visscher, PM; Wain, LV; Walter, K; Ward, K; Wilson, SG; Wong, K; Yang, J; Zeggini, E; Zhang, F; Zheng, H-F; Anney, R; Ayub, M; Barrett, JC; Blackwood, D; Bolton, PF; Breen, G; Collier, DA; Craddock, N; Crooks, L; Curran, S; Curtis, D; Durbin, R; Gallagher, L; Geschwind, D; Gurling, H; Holmans, P; Lee, I; Lonnqvist, J; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Morris, J; Muddyman, D; O'Donovan, MC; Owen, MJ; Palotie, A; Parr, JR; Paunio, T; Pietilainen, O; Rehnstrom, K; Sharp, SI; Skuse, D; St Clair, D; Suvisaari, J; Walters, JTR; Williams, HJ; Barroso, I; Bochukova, E; Bounds, R; Dominiczak, A; Durbin, R; Farooqi, IS; Hendricks, AE; Keogh, J; Marenne, GL; McCarthy, S; Morris, A; Muddyman, D; O'Rahilly, S; Porteous, DJ; Smith, BH; Tachmazidou, I; Wheeler, E; Zeggini, E; Al Turki, S; Anderson, CA; Antony, D; Barroso, I; Beales, P; Bentham, J; Bhattacharya, S; Calissano, M; Carss, K; Chatterjee, K; Cirak, S; Cosgrove, C; Durbin, R; Fitzpatrick, DR; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Grozeva, D; Humphries, SE; Hurles, ME; McCarthy, S; Mitchison, HM; Muddyman, D; Muntoni, F; O'Rahilly, S; Onoufriadis, A; Parker, V; Payne, F; Plagnol, V; Raymond, FL; Roberts, N; Savage, DB; Scambler, P; Schmidts, M; Schoenmakers, N; Semple, RK; Serra, E; Spasic-Boskovic, O; Stevens, E; van Kogelenberg, M; Vijayarangakannan, P; Walter, K; Williamson, KA; Wilson, C; Whyte, T; Ciampi, A; Greenwood, CMT; Hendricks, AE; Li, R; Metrustry, S; Oualkacha, K; Tachmazidou, I; Xu, C; Zeggini, E; Bobrow, M; Bolton, PF; Durbin, R; Fitzpatrick, DR; Griffin, H; Hurles, ME; Kaye, J; Kennedy, K; Kent, A; Muddyman, D; Muntoni, F; Raymond, FL; Semple, RK; Smee, C; Spector, TD; Timpson, NJ; Charlton, R; Ekong, R; Futema, M; Humphries, SE; Khawaja, F; Lopes, LR; Migone, N; Payne, SJ; Plagnol, V; Pollitt, RC; Povey, S; Ridout, CK; Robinson, RL; Scott, RH; Shaw, A; Syrris, P; Taylor, R; Vandersteen, AM; Barrett, JC; Barroso, I; Smith, GD; Durbin, R; Farooqi, IS; Fitzpatrick, DR; Hurles, ME; Kaye, J; Kennedy, K; Langford, C; McCarthy, S; Muddyman, D; Owen, MJ; Palotie, A; Richards, JB; Soranzo, N; Spector, TD; Stalker, J; Timpson, NJ; Zeggini, E; Amuzu, A; Casas, JP; Chambers, JC; Cocca, M; Dedoussis, G; Gambaro, G; Gasparini, P; Gaunt, TR; Huang, J; Iotchkova, V; Isaacs, A; Johnson, J; Kleber, ME; Kooner, JS; Langenberg, C; Luan, J; Malerba, G; Maerz, W; Matchan, A; Min, JL; Morris, R; Nordestgaard, BG; Benn, M; Ring, S; Scott, RA; Soranzo, N; Southam, L; Timpson, NJ; Toniolo, D; Traglia, M; Tybjaerg-Hansen, A; van Duijn, CM; van Leeuwen, EM; Varbo, A; Whincup, P; Zaza, G; Zeggini, E; Zhang, W; - view fewer (2015) The UK10K project identifies rare variants in health and disease. Nature , 526 (7571) pp. 82-90. 10.1038/nature14962.

Wang, H; Kaçar Bayram, A; Sprute, R; Ozdemir, O; Cooper, E; Pergande, M; Efthymiou, S; ... Cirak, S; + view all Wang, H; Kaçar Bayram, A; Sprute, R; Ozdemir, O; Cooper, E; Pergande, M; Efthymiou, S; Nedic, I; Mazaheri, N; Stumpfe, K; Azizi Malamiri, R; Shariati, G; Zeighami, J; Bayram, N; Naghibzadeh, SK; Tajik, M; Yaşar, M; Sami Güven, A; Bibi, F; Sultan, T; Salpietro, V; Houlden, H; Per, H; Galehdari, H; Shalbafan, B; Jamshidi, Y; Cirak, S; - view fewer (2019) Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. Frontiers in Neuroscience , 13 , Article 974. 10.3389/fnins.2019.00974.

Wang, H; Marrosu, E; Brayson, D; Wasala, NB; Johnson, EK; Scott, CS; Yue, Y; ... Montanaro, F; + view all Wang, H; Marrosu, E; Brayson, D; Wasala, NB; Johnson, EK; Scott, CS; Yue, Y; Hau, K-L; Trask, AJ; Froehner, SC; Adams, ME; Zhang, L; Duan, D; Montanaro, F; - view fewer (2021) Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin. Human Molecular Genetics 10.1093/hmg/ddab133. (In press).

Ward, Kailee S; Ptak, Christopher P; Pashkova, Natalya; Grider, Tiffany; Peterson, Tabitha A; Pareyson, Davide; Pisciotta, Chiara; ... Shy, Michael E; + view all Ward, Kailee S; Ptak, Christopher P; Pashkova, Natalya; Grider, Tiffany; Peterson, Tabitha A; Pareyson, Davide; Pisciotta, Chiara; Saveri, Paola; Moroni, Isabella; Laura, Matilde; Burns, Joshua; Menezes, Manoj P; Cornett, Kayla; Finkel, Richard; Mukherjee-Clavin, Bipasha; Sumner, Charlotte J; Greene, Maxwell; Abdul Hamid, Omer; Herrmann, David; Sadjadi, Reza; Walk, David; Züchner, Stephan; Reilly, Mary M; Scherer, Steven S; Inherited Neuropathy Consortium, .; Piper, Robert C; Shy, Michael E; - view fewer (2025) Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variant. Brain , Article waf219. 10.1093/brain/awaf219. (In press).

Wasala, NB; Shin, J-H; Lai, Y; Yue, Y; Montanaro, F; Duan, D; (2018) Cardiac-Specific Expression of ΔH2-R15 Mini-Dystrophin Normalized All Electrocardiogram Abnormalities and the End-Diastolic Volume in a 23-Month-Old Mouse Model of Duchenne Dilated Cardiomyopathy. Human Gene Therapy , 29 (7) pp. 737-748. 10.1089/hum.2017.144.

Wassenberg, T; Molero-Luis, M; Jeltsch, K; Hoffmann, GF; Assmann, B; Blau, N; Garcia-Cazorla, A; ... Opladen, T; + view all Wassenberg, T; Molero-Luis, M; Jeltsch, K; Hoffmann, GF; Assmann, B; Blau, N; Garcia-Cazorla, A; Artuch, R; Pons, R; Pearson, TS; Leuzzi, V; Mastrangelo, M; Pearl, PL; Lee, WT; Kurian, MA; Heales, S; Flint, L; Verbeek, M; Willemsen, M; Opladen, T; - view fewer (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases , 12 , Article 12. 10.1186/s13023-016-0522-z.

Webb, EA; Elliott, L; Carlin, D; Wilson, M; Hall, K; Netherton, J; Reed, J; ... Wood, AG; + view all Webb, EA; Elliott, L; Carlin, D; Wilson, M; Hall, K; Netherton, J; Reed, J; Barrett, TG; Salwani, V; Clayden, JD; Arlt, W; Krone, N; Peet, AC; Wood, AG; - view fewer (2018) Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones. The Journal of Clinical Endocrinology & Metabolism , 103 (4) pp. 1330-1341. 10.1210/jc.2017-01481.

Webb, EA; O'Reilly, MA; Clayden, JD; Seunarine, KK; Dale, N; Salt, A; Clark, CA; Webb, EA; O'Reilly, MA; Clayden, JD; Seunarine, KK; Dale, N; Salt, A; Clark, CA; Dattani, MT; - view fewer (2013) Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment. PLoS One , 8 (3) , Article e59048. 10.1371/journal.pone.0059048.

Webb, K; Butler, G; Ciurtin, C; Peckham, H; Radziszewska, A; Wedderburn, L; Ioannou, J; (2018) Pubertal females produce an enhanced interferon-alpha anti-viral response compared to males, which is associated with X chromosome number, and not sex hormones. Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece.

Webb, K; Butler, G; Ciurtin, C; Peckham, H; Radziszewska, A; Wedderburn, L; Ioannou, J; (2018) Sex Differences in Autoimmune Disease: Testosterone is Associated with a Decrease in Expression of Key Anti-viral Genes During Puberty, Which may Decrease the Risk of Autoimmunity in Males. Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece.

Webb, K; Butler, G; Ciurtin, C; Peckham, H; Radziszewska, A; Wedderburn, L; Ioannou, Y; (2018) Juvenile systemic lupus erythematosus with a baseline high interferon signature associates with increased immune cell TLR7 expression and enhanced TLR7 dependent IFNα production. Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece.

Wedderburn, LR; Webb, K; Peckham, H; Radziszewska, A; Menon, M; Oliveri, P; Simpson, F; ... Ioannou, Y; + view all Wedderburn, LR; Webb, K; Peckham, H; Radziszewska, A; Menon, M; Oliveri, P; Simpson, F; Deakin, CT; Lee, S; Ciurtin, C; Butler, G; Ioannou, Y; - view fewer (2019) Sex and Pubertal Differences in the Type 1 Interferon Pathway Associate With Both X Chromosome Number and Serum Sex Hormone Concentration. Frontiers in Immunology , 9 , Article 3167. 10.3389/fimmu.2018.03167.

Weeke, LC; Boylan, GB; Pressler, RM; Hallberg, B; Blennow, M; Toet, MC; Groenendaal, F; ... NEonatal seizure treatment with Medication Off-patent (NEMO), .; + view all Weeke, LC; Boylan, GB; Pressler, RM; Hallberg, B; Blennow, M; Toet, MC; Groenendaal, F; de Vries, LS; NEonatal seizure treatment with Medication Off-patent (NEMO), .; - view fewer (2016) Role of EEG background activity, seizure burden and MRI in predicting neurodevelopmental outcome in full-term infants with hypoxic-ischaemic encephalopathy in the era of therapeutic hypothermia. European Journal of Paediatric Neurology , 20 (6) pp. 855-864. 10.1016/j.ejpn.2016.06.003.

Weerkamp, Pien; Chieffo, Daniela; Collin, Philippe; Moriconi, Federica; Papageorgiou, Andriani; Vainieri, Isabella; Miranda, Ruben; ... Hendriksen, Jos; + view all Weerkamp, Pien; Chieffo, Daniela; Collin, Philippe; Moriconi, Federica; Papageorgiou, Andriani; Vainieri, Isabella; Miranda, Ruben; Hankinson, Catherine; Vogel, Asmus; Poncet, Sarah; Moss, Catherine; Muntoni, Francesco; Mercuri, Eugenio; Hendriksen, Jos; - view fewer (2023) Psychological test usage in duchenne muscular dystrophy: An EU multi-centre study. European Journal of Paediatric Neurology , 46 pp. 42-47. 10.1016/j.ejpn.2023.06.007.

Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; Gale, DP; Bitner-Glindzicz, MAK; Black, GC; Brennan, P; Elliott, P; Flinter, FA; Floto, RA; Houlden, H; Irving, M; Koziell, A; Maher, ER; Markus, HS; Morrell, NW; Newman, WG; Roberts, I; Sayer, JA; Smith, KGC; Taylor, JC; Watkins, H; Webster, AR; Wilkie, AOM; Williamson, C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford, S; Penkett, CJ; Stirrups, KE; Rendon, A; Ouwehand, WH; Bradley, JR; Raymond, FL; Caulfield, M; Turro, E; Chinnery, PF; - view fewer (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520.

Weissbach, A; Pauly, MG; Herzog, R; Hahn, L; Halmans, S; Hamami, F; Bolte, C; ... Lohmann, K; + view all Weissbach, A; Pauly, MG; Herzog, R; Hahn, L; Halmans, S; Hamami, F; Bolte, C; Camargos, S; Jeon, B; Kurian, MA; Opladen, T; Brueggemann, N; Huppertz, H-J; Koenig, IR; Klein, C; Lohmann, K; - view fewer (2021) Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review. Movement Disorders 10.1002/mds.28874.

Weisshardt, I; Vlaev, I; Cross, JH; Blümcke, I; (2021) Taking the Learner on a Journey – An analysis of an Integrated Virtual CME Program in Epilepsy during the COVID-19 Pandemic. Journal of European CME , 10 (1) , Article 2015190. 10.1080/21614083.2021.2015190.

Welby, E; Lakowski, J; Di Foggia, V; Budinger, D; Gonzalez-Cordero, A; Lun, ATL; Epstein, M; ... Sowden, JC; + view all Welby, E; Lakowski, J; Di Foggia, V; Budinger, D; Gonzalez-Cordero, A; Lun, ATL; Epstein, M; Patel, A; Cuevas, E; Kruczek, K; Naeem, A; Minneci, F; Hubank, M; Jones, DT; Marioni, JC; Ali, RR; Sowden, JC; - view fewer (2017) Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells. Stem Cell Reports , 9 (6) pp. 1898-1915. 10.1016/j.stemcr.2017.10.018.

Wenneras, C; Goldblatt, D; Zancolli, M; Mattsson, M; Wass, L; Horkko, S; Rosen, A; (2017) Natural IgM antibodies in the immune defence against neoehrlichiosis. Infectious Diseases , 49 (11-12) pp. 809-816. 10.1080/23744235.2017.1347815.

Werner, K; Fosi, T; Boyd, SG; Baldeweg, T; Scott, RC; Neville, BG; (2015) Temporal lobe impairment in West syndrome: event-related potential evidence. Ann Neurol , 77 (1) 47 - 57. 10.1002/ana.24297.

West, TO; Berthouze, L; Farmer, SF; Cagnan, H; Litvak, V; (2021) Inference of Brain Networks with Approximate Bayesian Computation - assessing face validity with an example application in Parkinsonism. NeuroImage , 236 , Article 118020. 10.1016/j.neuroimage.2021.118020.

West, T; Farmer, S; Berthouze, L; Jha, A; Beudel, M; Foltynie, T; Limousin, P; ... Litvak, V; + view all West, T; Farmer, S; Berthouze, L; Jha, A; Beudel, M; Foltynie, T; Limousin, P; Zrinzo, L; Brown, P; Litvak, V; - view fewer (2016) The Parkinsonian Subthalamic Network: Measures of Power, Linear, and Non-linear Synchronization and their Relationship to L-DOPA Treatment and OFF State Motor Severity. Frontiers in Human Neuroscience , 10 , Article 517. 10.3389/fnhum.2016.00517.

West, TO; Berthouze, L; Halliday, DM; Litvak, V; Sharott, A; Magill, PJ; Farmer, SF; (2018) Propagation of Beta/Gamma Rhythms in the Cortico-Basal Ganglia Circuits of the Parkinsonian Rat. Journal of Neurophysiology , 119 (5) pp. 1608-1628. 10.1152/jn.00629.2017.

Weststrate, Harriet; Stimpson, Georgia; Thomas, Lily; Scoto, Mariacristina; Johnson, Emily; Stewart, Alexandra; Muntoni, Francesco; ... Conway, Eleanor; + view all Weststrate, Harriet; Stimpson, Georgia; Thomas, Lily; Scoto, Mariacristina; Johnson, Emily; Stewart, Alexandra; Muntoni, Francesco; Baranello, Giovanni; Conway, Eleanor; - view fewer (2022) Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen. Developmental Medicine & Child Neurology 10.1111/dmcn.15171.

Whitby, E; Offiah, AC; Shelmerdine, SC; van Rijn, RR; Aertsen, M; Klein, WM; Perry, D; ... Arthurs, OJ; + view all Whitby, E; Offiah, AC; Shelmerdine, SC; van Rijn, RR; Aertsen, M; Klein, WM; Perry, D; Goergen, SK; Abel, C; Taranath, A; Gascho, D; Miller, E; Arthurs, OJ; - view fewer (2021) Current state of perinatal postmortem magnetic resonance imaging: European Society of Paediatric Radiology questionnaire-based survey and recommendations. Pediatric Radiology 10.1007/s00247-020-04905-9.

White, MJ; Beaver, CM; Goodier, MR; Bottomley, C; Nielsen, CM; Wolf, A-SFM; Boldrin, L; ... Riley, EM; + view all White, MJ; Beaver, CM; Goodier, MR; Bottomley, C; Nielsen, CM; Wolf, A-SFM; Boldrin, L; Whitmore, C; Morgan, J; Pearce, DJ; Riley, EM; - view fewer (2017) Calorie Restriction Attenuates Terminal Differentiation of Immune Cells. Frontiers in Immunology , 7 , Article 667. 10.3389/fimmu.2016.00667.

Whitehead, K; Laudiano-Dray, P; Pressler, R; Meek, J; Fabrizi, L; (2018) Somatosensory-evoked delta brush activity in very pre-term infants. Presented at: 31st International Congress of Clinical Neurophysiology (ICCN) of the IFCN, Washington, DC, USA.

Whitehead, K; Pressler, R; Fabrizi, L; (2017) Characteristics and clinical significance of delta brushes in the EEG of premature infants. Clinical Neurophysiology Practice , 2 pp. 12-18. 10.1016/j.cnp.2016.11.002.

Whiteley, Victoria J; Schoeler, Natasha E; (2024) Nice to know 2: The impact of NICE guidelines on ketogenic diet services in the UK and Ireland – An update. Journal of Human Nutrition and Dietetics , 37 (6) pp. 1432-1437. 10.1111/jhn.13359.

Whiteley, VJ; Martin-McGill, KJ; Carroll, JH; Taylor, H; Schoeler, NE; (2020) Nice to know: impact of NICE guidelines on ketogenic diet services nationwide. Journal of Human Nutrition and Dietetics , 33 (1) pp. 98-105. 10.1111/jhn.12697.

Wiessner, M; Roos, A; Munn, CJ; Viswanathan, R; Whyte, T; Cox, D; Schoser, B; ... Senderek, J; + view all Wiessner, M; Roos, A; Munn, CJ; Viswanathan, R; Whyte, T; Cox, D; Schoser, B; Sewry, C; Roper, H; Phadke, R; Marini Bettolo, C; Barresi, R; Charlton, R; Bönnemann, CG; Abath Neto, O; Reed, UC; Zanoteli, E; Araújo Martins Moreno, C; Ertl-Wagner, B; Stucka, R; De Goede, C; Borges da Silva, T; Hathazi, D; Dell'Aica, M; Zahedi, RP; Thiele, S; Müller, J; Kingston, H; Müller, S; Curtis, E; Walter, MC; Strom, TM; Straub, V; Bushby, K; Muntoni, F; Swan, LE; Lochmüller, H; Senderek, J; - view fewer (2017) Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. The American Journal of Human Genetics , 100 (3) pp. 523-536. 10.1016/j.ajhg.2017.01.024.

Wijmenga-Monsuur, AJ; van Westen, E; Knol, MJ; Jongerius, RMC; Zancolli, M; Goldblatt, D; van Gageldonk, PGM; ... Rots, NY; + view all Wijmenga-Monsuur, AJ; van Westen, E; Knol, MJ; Jongerius, RMC; Zancolli, M; Goldblatt, D; van Gageldonk, PGM; Tcherniaeva, I; Berbers, GAM; Rots, NY; - view fewer (2015) Direct Comparison of Immunogenicity Induced by 10-or 13-Valent Pneumococcal Conjugate Vaccine around the 11-Month Booster in Dutch Infants. PLoS One , 10 (12) , Article e0144739. 10.1371/journal.pone.0144739.

Wilke, M; Baldeweg, T; (2019) A multidimensional artefact-reduction approach to increase robustness of first-level fMRI analyses: Censoring vs. interpolating. Journal of Neuroscience Methods , 318 pp. 56-68. 10.1016/j.jneumeth.2019.02.008.

Willen, SM; Cohen, R; Rodeghier, M; Kirkham, F; Redline, SS; Rosen, C; Kirkby, J; Willen, SM; Cohen, R; Rodeghier, M; Kirkham, F; Redline, SS; Rosen, C; Kirkby, J; DeBaun, MR; - view fewer (2018) Age is the only predictor of small decrease in lung function in children with sickle cell anemia. American Journal of Hematology , 93 (3) pp. 408-415. 10.1002/ajh.25003.

Willen, SM; Rodeghier, M; Strunk, RC; Bacharier, LB; Rosen, CL; Kirkham, FJ; DeBaun, MR; Willen, SM; Rodeghier, M; Strunk, RC; Bacharier, LB; Rosen, CL; Kirkham, FJ; DeBaun, MR; Cohen, RT; - view fewer (2018) Aeroallergen sensitization predicts acute chest syndrome in children with sickle cell anaemia. British Journal of Haematology , 180 (4) pp. 571-577. 10.1111/bjh.15076.

Willen, SM; Rodeghier, M; Strunk, RC; Rosen, CL; Kirkham, FJ; Field, JJ; DeBaun, MR; Willen, SM; Rodeghier, M; Strunk, RC; Rosen, CL; Kirkham, FJ; Field, JJ; DeBaun, MR; Cohen, RT; - view fewer (2017) Airway Hyperresponsiveness Does Not Predict Morbidity in Children with Sickle Cell Anemia. American Journal of Respiratory and Critical Care Medicine , 195 (11) pp. 1533-1534. 10.1164/rccm.201610-1970LE.

Willoughby, J; Duff-Farrier, C; Desurkar, A; Kurian, M; Raghavan, A; DDD Study; Balasubramanian, M; (2018) Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American Journal of Medical Genetics Part A , 176 (5) pp. 1049-1054. 10.1002/ajmg.a.38656.

Wilmshurst, JM; Ibekwe, RC; O'Callaghan, FJK; (2017) Epileptic spasms - 175 years on: Trying to teach an old dog new tricks. Seizure , 44 pp. 81-86. 10.1016/j.seizure.2016.11.021.

Wilson, Jenny L; Gregory, Allison; Kurian, Manju A; Bushlin, Ittai; Mochel, Fanny; Emrick, Lisa; Adang, Laura; ... Hayflick, Susan J; + view all Wilson, Jenny L; Gregory, Allison; Kurian, Manju A; Bushlin, Ittai; Mochel, Fanny; Emrick, Lisa; Adang, Laura; Hogarth, Penelope; Hayflick, Susan J; - view fewer (2021) Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. Developmental Medicine & Child Neurology (DMCN) , 63 (12) pp. 1402-1409. 10.1111/dmcn.14980.

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; ... Hanna, Michael G; + view all Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard JLF; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson; Bhatia, Rohit; Dalal, Ashwin; Srivastava, MV Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert DS; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G; - view fewer (2023) Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain , Article awad254. 10.1093/brain/awad254. (In press).

Wilson, BA; Vargha-Khadem, F; Florschutz, G; (2018) Alexander's disease and the story of Louise. Neuropsychological Rehabilitation , 28 (2) pp. 199-207. 10.1080/09602011.2016.1222945.

Wilson, MP; Footitt, EJ; Papandreou, A; Uudelepp, M-L; Pressler, R; Stevenson, DC; Gabriel, C; ... Mills, PB; + view all Wilson, MP; Footitt, EJ; Papandreou, A; Uudelepp, M-L; Pressler, R; Stevenson, DC; Gabriel, C; McSweeney, M; Baggot, M; Burke, D; Stödberg, T; Riney, K; Schiff, M; Heales, SJR; Mills, KA; Gissen, P; Clayton, PT; Mills, PB; - view fewer (2017) An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. Analytical Chemistry , 89 (17) pp. 8892-8900. 10.1021/acs.analchem.7b01358.

Wirrell, Elaine C; Nabbout, Rima; Scheffer, Ingrid E; Alsaadi, Taoufik; Bogacz, Alicia; French, Jacqueline A; Hirsch, Edouard; ... Tinuper, Paolo; + view all Wirrell, Elaine C; Nabbout, Rima; Scheffer, Ingrid E; Alsaadi, Taoufik; Bogacz, Alicia; French, Jacqueline A; Hirsch, Edouard; Jain, Satish; Kaneko, Sunao; Riney, Kate; Samia, Pauline; Snead, O Carter; Somerville, Ernest; Specchio, Nicola; Trinka, Eugen; Zuberi, Sameer M; Balestrini, Simona; Wiebe, Samuel; Cross, J Helen; Perucca, Emilio; Moshe, Solomon L; Tinuper, Paolo; - view fewer (2022) Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia 10.1111/epi.17237.

Wirrell, EC; Grinspan, ZM; Knupp, KG; Jiang, Y; Hammeed, B; Mytinger, JR; Patel, AD; ... Shellhaas, RA; + view all Wirrell, EC; Grinspan, ZM; Knupp, KG; Jiang, Y; Hammeed, B; Mytinger, JR; Patel, AD; Nabbout, R; Specchio, N; Cross, JH; Shellhaas, RA; - view fewer (2020) Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians. Journal of Child Neurology 10.1177/0883073820940189. (In press).

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; ... Anheim, Mathieu; + view all Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jeremie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaetan; Calmels, Nadege; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Meneret, Aurelie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu; - view fewer (2022) Highlighting the Dystonic Phenotype Related to GNAO1. Movement Disorders 10.1002/mds.29074. (In press).

Wolfe, A; Scoto, M; Milev, E; Lofra, RM; Abbott, L; Wake, R; Rohwer, A; ... Muntoni, F; + view all Wolfe, A; Scoto, M; Milev, E; Lofra, RM; Abbott, L; Wake, R; Rohwer, A; Main, M; Baranello, G; Mayhew, A; Marini-Bettolo, C; Muntoni, F; - view fewer (2021) Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation. Muscle & Nerve , 64 (5) pp. 545-551. 10.1002/mus.27404.

Wolfe, Amy; Stimpson, Georgia; Ramsey, Danielle; Coratti, Giorgia; Dunaway Young, Sally; Mayhew, Anna; Pane, Marika; ... international SMA consortium (iSMAc); + view all Wolfe, Amy; Stimpson, Georgia; Ramsey, Danielle; Coratti, Giorgia; Dunaway Young, Sally; Mayhew, Anna; Pane, Marika; Rohwer, Annemarie; Muni Lofra, Robert; Duong, Tina; O'Reilly, Emer; Milev, Evelin; Civitello, Matthew; Sansone, Valeria A; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Albamonte, Emilio; Mazzone, Elena; Main, Marion; Montes, Jacqueline; Glanzman, Allan M; Zolkipli-Cunningham, Zarazuela; Pasternak, Amy; Marini-Bettolo, Chiara; Day, John W; Darras, Basil T; De Vivo, Darryl C; Baranello, Giovanni; Scoto, Mariacristina; Finkel, Richard S; Mercuri, Eugenio; Muntoni, Francesco; international SMA consortium (iSMAc); - view fewer (2024) Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. Journal of Neuromuscular Diseases 10.3233/JND-230211. (In press).

Wong, I; St John-Green, C; Walker, SM; (2013) Opioid-sparing effects of perioperative paracetamol and nonsteroidal anti-inflammatory drugs (NSAIDs) in children. Paediatr Anaesth , 23 (6) 475 - 495. 10.1111/pan.12163.

Wong‐Spracklen, Vivien MY; Kolesnik, Anna; Eck, Josefine; Sabanathan, Saras; Spasic‐Boskovic, Olivera; Maw, Anna; Baker, Kate; (2022) Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay. American Journal of Medical Genetics Part A , 188 (11) pp. 3306-3311. 10.1002/ajmg.a.62960.

Wray, J; Brown, KL; Ridout, D; Lakhanpaul, M; Smith, L; Scarisbrick, A; O'Curry, S; Wray, J; Brown, KL; Ridout, D; Lakhanpaul, M; Smith, L; Scarisbrick, A; O'Curry, S; Hoskote, A; - view fewer (2018) Development and preliminary testing of the Brief Developmental Assessment: an early recognition tool for children with heart disease. Cardiology in the Young , 28 (4) pp. 582-591. 10.1017/S1047951117002918.

Wright, A; Booth, R; (2023) Neuropsychological profiles of children with agenesis of the corpus callosum: A scoping review. Developmental Medicine and Child Neurology , 65 (9) pp. 1141-1149. 10.1111/dmcn.15532.

Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna ME; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; ... Childhood CMT Study Group, of the Inherited Neuropathy Consortium; + view all Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna ME; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; Estilow, Timothy; Shy, Michael E; Ramchandren, Sindhu; Childhood CMT Study Group, of the Inherited Neuropathy Consortium; - view fewer (2023) Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure. Journal of the Peripheral Nervous System , 28 (2) pp. 237-251. 10.1111/jns.12538.

Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna ME; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; ... Childhood CMT Study Group of the Inherited Neuropathy, Consortium; + view all Wu, Tong Tong; Finkel, Richard S; Siskind, Carly E; Feely, Shawna ME; Burns, Joshua; Reilly, Mary M; Muntoni, Francesco; Milev, Evelin; Estilow, OT Timothy; Shy, Michael E; Ramchandren, Sindhu; Childhood CMT Study Group of the Inherited Neuropathy, Consortium; - view fewer (2023) Validation of the Parent-Proxy Version of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Instrument for children aged 0-7 years. Journal of the Peripheral Nervous System 10.1111/jns.12557. (In press).

X

Xu, Y; Moulding, D; Jin, W; Beggs, S; (2023) Microglial phagocytosis mediates long-term restructuring of spinal GABAergic circuits following early life injury. Brain, Behavior, and Immunity , 111 pp. 127-137. 10.1016/j.bbi.2023.04.001.

Xu, Yajing; Koch, Stephanie C; Chamessian, Alexander; He, Qianru; Sundukova, Mayya; Heppenstall, Paul; Ji, RuRong; ... Beggs, Simon; + view all Xu, Yajing; Koch, Stephanie C; Chamessian, Alexander; He, Qianru; Sundukova, Mayya; Heppenstall, Paul; Ji, RuRong; Fitzgerald, Maria; Beggs, Simon; - view fewer (2024) Microglial Refinement of A-Fiber Projections in the Postnatal Spinal Cord Dorsal Horn Is Required for Normal Maturation of Dynamic Touch. Journal of Neuroscience , 44 (2) , Article e1354232023. 10.1523/JNEUROSCI.1354-23.2023.

Y

Yan, J-L; Li, C; Boonzaier, NR; Fountain, DM; Larkin, TJ; Matys, T; van der Hoorn, A; Yan, J-L; Li, C; Boonzaier, NR; Fountain, DM; Larkin, TJ; Matys, T; van der Hoorn, A; Price, SJ; - view fewer (2019) Multimodal MRI characteristics of the glioblastoma infiltration beyond contrast enhancement. Therapeutic Advances in Neurological Disorders , 12 pp. 1-10. 10.1177/1756286419844664.

Yan, J-L; van der Hoorn, A; Larkin, TJ; Boonzaier, NR; Matys, T; Price, SJ; (2017) Extent of resection of peritumoral diffusion tensor imaging-detected abnormality as a predictor of survival in adult glioblastoma patients. Journal of neurosurgery , 126 (1) pp. 234-241. 10.3171/2016.1.JNS152153.

Yang, Y; van der Klaauw, AA; Zhu, L; Cacciottolo, TM; He, Y; Stadler, LKJ; Wang, C; ... Zhang, W; + view all Yang, Y; van der Klaauw, AA; Zhu, L; Cacciottolo, TM; He, Y; Stadler, LKJ; Wang, C; Xu, P; Saito, K; Hinton, A; Yan, X; Keogh, JM; Henning, E; Banton, MC; Hendricks, AE; Bochukova, EG; Mistry, V; Lawler, KL; Liao, L; Xu, J; O'Rahilly, S; Tong, Q; Barroso, I; O'Malley, BW; Farooqi, IS; Xu, Y; Balasubramanian, S; Clapham, P; Coates, G; Cox, T; Daly, A; Danecek, P; Du, Y; Durbin, R; Edkins, S; Ellis, P; Flicek, P; Guo, X; Guo, X; Huang, L; Jackson, DK; Joyce, C; Keane, T; Kolb-Kokocinski, A; Langford, C; Li, Y; Liang, J; Lin, H; Liu, R; Maslen, J; McCarthy, S; Muddyman, D; Quail, MA; Stalker, J; Sun, J; Tian, J; Wang, G; Wang, J; Wang, Y; Wong, K; Zhang, P; Birney, E; Boustred, C; Brion, M-J; Chen, L; Clement, G; Danecek, P; Smith, GD; Day, INM; Day-Williams, A; Down, T; Dunham, I; Durbin, R; Evans, DM; Fatemifar, G; Gaunt, TR; Geihs, M; Greenwood, CMT; Hart, D; Howie, B; Huang, J; Hubbard, T; Hysi, P; Iotchkova, V; Jamshidi, Y; Kemp, JP; Lachance, G; Lawson, D; Lek, M; Lopes, M; MacArthur, DG; Marchini, J; Massimo, M; Mathieson, I; McCarthy, S; Memari, Y; Metrustry, S; Min, JL; Moayyeri, A; Muddyman, D; Northstone, K; Panoutsopoulou, K; Paternoster, L; Perry, JRB; Quaye, L; Richards, JB; Ring, S; Ritchie, GRS; Schiffels, S; Shihab, HA; Shin, S-Y; Small, KS; Artigas, MS; Soranzo, N; Southam, L; Spector, TD; St Pourcain, B; Surdulescu, G; Tachmazidou, I; Timpson, NJ; Tobin, MD; Valdes, AM; Visscher, PM; Wain, LV; Walter, K; Ward, K; Wilson, SG; Wong, K; Yang, J; Zeggini, E; Zhang, F; Zheng, H-F; Anney, R; Ayub, M; Barrett, JC; Blackwood, D; Bolton, PF; Breen, G; Collier, DA; Craddock, N; Crooks, L; Curran, S; Curtis, D; Durbin, R; Gallagher, L; Geschwind, D; Gurling, H; Holmans, P; Lee, I; Lonnqvist, J; McCarthy, S; McGuffin, P; McIntosh, AM; McKechanie, AG; McQuillin, A; Morris, J; Muddyman, D; O'Donovan, MC; Owen, MJ; Palotie, A; Parr, JR; Paunio, T; Pietilainen, O; Rehnstrom, K; Sharp, SI; Skuse, D; St Clair, D; Suvisaari, J; Walters, JTR; Williams, HJ; Bochukova, E; Bounds, R; Dominiczak, A; Durbin, R; Keogh, J; Marenne, G; McCarthy, S; Morris, A; Muddyman, D; Porteous, DJ; Smith, BH; Tachmazidou, I; Wheeler, E; Zeggini, E; Al Turki, S; Anderson, CA; Antony, D; Beales, P; Bentham, J; Bhattacharya, S; Calissano, M; Carss, K; Chatterjee, K; Cirak, S; Cosgrove, C; Durbin, R; Fitzpatrick, DR; Floyd, J; Foley, AR; Franklin, CS; Futema, M; Grozeva, D; Humphries, SE; Hurles, ME; McCarthy, S; Mitchison, HM; Muddyman, D; Muntoni, F; Onoufriadis, A; Parker, V; Payne, F; Plagnol, V; Raymond, FL; Roberts, N; Savage, DB; Scambler, P; Schmidts, M; Schoenmakers, N; Semple, RK; Serra, E; Spasic-Boskovic, O; Stevens, E; van Kogelenberg, M; Vijayarangakannan, P; Walter, K; Williamson, KA; Wilson, C; Whyte, T; Ciampi, A; Greenwood, CMT; Li, R; Metrustry, S; Oualkacha, K; Tachmazidou, I; Xu, C; Zeggini, E; Bobrow, M; Bolton, PF; Durbin, R; Fitzpatrick, DR; Griffin, H; Hurles, ME; Kaye, J; Kennedy, K; Kent, A; Muddyman, D; Muntoni, F; Raymond, FL; Semple, RK; Smee, C; Spector, TD; Timpson, NJ; Charlton, R; Ekong, R; Futema, M; Humphries, SE; Khawaja, F; Lopes, LR; Migone, N; Payne, SJ; Plagnol, V; Pollitt, RC; Povey, S; Ridout, CK; Robinson, RL; Scott, RH; Shaw, A; Syrris, P; Taylor, R; Vandersteen, AM; Barrett, JC; Smith, GD; Durbin, R; Fitzpatrick, DR; Hurles, ME; Kaye, J; Kennedy, K; Langford, C; McCarthy, S; Muddyman, D; Owen, MJ; Palotie, A; Richards, JB; Soranzo, N; Spector, TD; Stalker, J; Timpson, NJ; Zeggini, E; Amuzu, A; Casas, JP; Chambers, JC; Cocca, M; Dedoussis, G; Gambaro, G; Gasparini, P; Gaunt, TR; Huang, J; Iotchkova, V; Isaacs, A; Johnson, J; Kleber, ME; Kooner, JS; Langenberg, C; Luan, J; Malerba, G; Marz, W; Matchan, A; Min, JL; Morris, R; Nordestgaard, BG; Benn, M; Ring, S; Scott, RA; Soranzo, N; Southam, L; Timpson, NJ; Toniolo, D; Traglia, M; Tybjaerg-Hansen, A; van Duijn, CM; van Leeuwen, EM; Varbo, A; Whincup, P; Zaza, G; Zeggini, E; Zhang, W; - view fewer (2019) Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nature Communications , 10 , Article 1718. 10.1038/s41467-019-08737-6.

Yates, R; Edwards, K; King, J; Luzon, O; Evangeli, M; Stark, D; McFarlane, F; ... Murphy, T; + view all Yates, R; Edwards, K; King, J; Luzon, O; Evangeli, M; Stark, D; McFarlane, F; Heyman, I; İnce, B; Kodric, J; Murphy, T; - view fewer (2016) Habit reversal training and educational group treatments for children with tourette syndrome: A preliminary randomised controlled trial. Behaviour Research and Therapy , 80 pp. 43-50. 10.1016/j.brat.2016.03.003.

Yoo, J; Kerkela, L; Hales, PW; Seunarine, KK; Clark, CA; (2021) High-resolution microscopic diffusion anisotropy imaging in the human hippocampus at 3T. Magnetic Resonance in Medicine 10.1002/mrm.29104. (In press).

Yoong, M; Martinos, MM; Chin, RF; Clark, CA; Scott, RC; (2013) Hippocampal volume loss following childhood convulsive status epilepticus is not limited to prolonged febrile seizures. Epilepsia , 54 (12) 2108 - 2115. 10.1111/epi.12426.

Yoong, M; Seunarine, K; Martinos, M; Chin, RF; Clark, CA; Scott, RC; (2013) Prolonged febrile seizures cause reversible reductions in white matter integrity. Neuroimage Clin , 3 515 - 521. 10.1016/j.nicl.2013.10.010.

Young, Fiona; Aquilina, Kristian; Seunarine, Kiran K; Mancini, Laura; Clark, Chris A; Clayden, Jonathan D; (2024) Fibre orientation atlas guided rapid segmentation of white matter tracts. Human Brain Mapping , 45 (2) , Article e26578. 10.1002/hbm.26578.

Young, William J; Lahrouchi, Najim; Isaacs, Aaron; Duong, ThuyVy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A; ... Munroe, Patricia B; + view all Young, William J; Lahrouchi, Najim; Isaacs, Aaron; Duong, ThuyVy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikäinen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E; Weiss, Stefan; Baldassari, Antoine R; Bartz, Traci M; Cook, James P; Evans, Daniel S; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L; Lin, Honghuang; Mei, Hao; Moscati, Arden; Müller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A; Tarazona-Santos, Eduardo; Thériault, Sébastien; van Duijvenboden, Stefan; Warren, Helen R; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T; Felix, Stephan B; Froguel, Philippe; Fuchsberger, Christian; Gögele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R; Huang, Paul L; Huikuri, Heikki V; Hutri-Kähönen, Nina; Ikram, M Arfan; Jackson, Rebecca D; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A; Leal, Thiago P; Lemaitre, Rozenn N; Lin, Henry J; Lind, Lars; Linneberg, Allan; Liu, Simin; MacFarlane, Peter W; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P; Mitchell, Rebecca N; Mononen, Nina; Montasser, May E; Morrison, Alanna C; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K; Pelliccione, Giulia; Pittman, Alan; Porteous, David J; Pramstaller, Peter P; Preuss, Michael H; Raitakari, Olli T; Reiner, Alexander P; Ribeiro, Antonio Luiz P; Rice, Kenneth M; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M Benjamin; Sinagra, Gianfranco; Sinner, Moritz F; Soliman, Elsayed Z; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D; Tinker, Andrew; Trompet, Stella; Uitterlinden, André; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A; Wilson, James G; Avery, Christy L; Conen, David; Correa, Adolfo; Cucca, Francesco; Dörr, Marcus; Gharib, Sina A; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Järvelin, Marjo-Riitta; Jukema, J Wouter; Kääb, Stefan; Kähönen, Mika; Kanters, Jørgen K; Kooperberg, Charles; Lehtimäki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth JF; Lubitz, Steven A; Mook-Kanamori, Dennis O; Morris, Andrew P; O'Connell, Jeffrey R; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M; Rotter, Jerome I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M; Verweij, Niek; Wilson, James F; Arking, Dan E; Ramirez, Julia; Lambiase, Pier D; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B; - view fewer (2022) Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. Nature Communications , 13 , Article 5144. 10.1038/s41467-022-32821-z.

Yozawitz, Elissa G; Cilio, Maria R; Mizrahi, Eli M; Moon, Jee-Young; Moshé, Solomon L; Nunes, Magda L; Plouin, Perrine; ... Pressler, Ronit M; + view all Yozawitz, Elissa G; Cilio, Maria R; Mizrahi, Eli M; Moon, Jee-Young; Moshé, Solomon L; Nunes, Magda L; Plouin, Perrine; Vanhatalo, Sampsa; Zuberi, Sameer; Pressler, Ronit M; - view fewer (2023) Application of the International League Against Epilepsy Neonatal Seizure Framework to an international panel of medical personnel. Epileptic Disorders , 25 (2) pp. 123-130. 10.1002/epd2.20005.

Yozawitz, E; Stacey, A; Pressler, RM; (2017) Pharmacotherapy for Seizures in Neonates with Hypoxic Ischemic Encephalopathy. Pediatric Drugs , 19 (6) pp. 553-567. 10.1007/s40272-017-0250-4.

Z

Zagaglia, S; Steel, D; Krithika, S; Hernandez-Hernandez, L; Custodio, HM; Gorman, KM; Vezyroglou, A; ... Kurian, MA; + view all Zagaglia, S; Steel, D; Krithika, S; Hernandez-Hernandez, L; Custodio, HM; Gorman, KM; Vezyroglou, A; Møller, RS; King Frcpch, MD; Hammer, TB; Spaull, R; Fazeli, W; Bartolomaeus, T; Doummar, D; Keren, B; Mignot, C; Bednarek, N; Cross, JH; Mallick, AA; Sanchis-Juan, A; Basu, A; Raymond, FL; Lynch, BJ; Majumdar Frcpch, A; Stamberger, H; Weckhuysen, S; Sisodiya, SM; Kurian, MA; - view fewer (2021) RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology , 96 (11) e1539-e1550. 10.1212/WNL.0000000000011543.

Zagaglia, S; Selch, C; Nisevic, JR; Mei, D; Michalak, Z; Hernandez-Hernandez, L; Krithika, S; ... Sisodiya, SM; + view all Zagaglia, S; Selch, C; Nisevic, JR; Mei, D; Michalak, Z; Hernandez-Hernandez, L; Krithika, S; Vezyroglou, K; Varadkar, SM; Pepler, A; Biskup, S; Leão, M; Gärtner, J; Merkenschlager, A; Jaksch, M; Møller, RS; Gardella, E; Kristiansen, BS; Hansen, LK; Vari, MS; Helbig, KL; Desai, S; Smith-Hicks, CL; Hino-Fukuyo, N; Talvik, T; Laugesaar, R; Ilves, P; Õunap, K; Körber, I; Hartlieb, T; Kudernatsch, M; Winkler, P; Schimmel, M; Hasse, A; Knuf, M; Heinemeyer, J; Makowski, C; Ghedia, S; Subramanian, GM; Striano, P; Thomas, RH; Micallef, C; Thom, M; Werring, DJ; Kluger, GJ; Cross, JH; Guerrini, R; Balestrini, S; Sisodiya, SM; - view fewer (2018) Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology , 91 e1-e11. 10.1212/WNL.0000000000006567.

Zaharieva, Irina T; Scoto, Mariacristina; Aragon‐Gawinska, Karolina; Ridout, Deborah; Doreste, Bruno; Servais, Laurent; Muntoni, Francesco; Zaharieva, Irina T; Scoto, Mariacristina; Aragon‐Gawinska, Karolina; Ridout, Deborah; Doreste, Bruno; Servais, Laurent; Muntoni, Francesco; Zhou, Haiyan; - view fewer (2022) Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology 10.1002/acn3.51579.

Zaharieva, IT; Calissano, M; Scoto, M; Preston, M; Cirak, S; Feng, L; Collins, J; ... Muntoni, F; + view all Zaharieva, IT; Calissano, M; Scoto, M; Preston, M; Cirak, S; Feng, L; Collins, J; Kole, R; Guglieri, M; Straub, V; Bushby, K; Ferlini, A; Morgan, JE; Muntoni, F; - view fewer (2013) Dystromirs as serum biomarkers for monitoring the disease severity in duchenne muscular dystrophy. PLoS One , 8 (11) , Article e80263. 10.1371/journal.pone.0080263.

Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; ... Muntoni, F; + view all Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; Amthor, H; Servais, L; Urtizberea, JA; Neto, OA; Zanoteli, E; Donkervoort, S; Taylor, J; Dixon, J; Poke, G; Foley, AR; Holmes, C; Williams, G; Holder, M; Yum, S; Medne, L; Quijano-Roy, S; Romero, NB; Fauré, J; Feng, L; Bastaki, L; Davis, MR; Phadke, R; Sewry, CA; Bönnemann, CG; Jungbluth, H; Bachmann, C; Treves, S; Muntoni, F; - view fewer (2018) STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human Mutation , 39 (12) pp. 1980-1994. 10.1002/humu.23635.

Zambon, Alberto A; Ayyar Gupta, Vandana; Ridout, Deborah; Manzur, Adnan Y; Baranello, Giovanni; Trucco, Federica; Muntoni, Francesco; Zambon, Alberto A; Ayyar Gupta, Vandana; Ridout, Deborah; Manzur, Adnan Y; Baranello, Giovanni; Trucco, Federica; Muntoni, Francesco; UK Northstar Clinical Network, .; - view fewer (2022) Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy. Developmental Medicine & Child Neurology 10.1111/dmcn.15176. (In press).

Zambon, Alberto A; Pini, Veronica; Bosco, Luca; Falzone, Yuri M; Munot, Pinki; Muntoni, Francesco; Previtali, Stefano C; (2023) Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases. Brain , 146 (3) pp. 806-822. 10.1093/brain/awac452.

Zambon, AA; Pitt, M; Laurà, M; Polke, JM; Reilly, MM; Muntoni, F; (2020) A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia. Journal of the Peripheral Nervous System , 25 (3) pp. 303-307. 10.1111/jns.12386.

Zambon, AA; Ridout, D; Main, M; Mein, R; Phadke, R; Muntoni, F; Sarkozy, A; (2020) LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort. Annals of Clinical and Translational Neurology , 7 (10) pp. 18870-1882. 10.1002/acn3.51172.

Zamir, A; Arthurs, O; Hagen, CK; Diemoz, PC; Brochard, T; Bravin, A; Sebire, N; Zamir, A; Arthurs, O; Hagen, CK; Diemoz, PC; Brochard, T; Bravin, A; Sebire, N; Olivo, A; - view fewer (2015) X-ray phase contrast tomography; proof of principle for post-mortem imaging. British Journal of Radiology , 89 (109) , Article 20150565. 10.1259/bjr.20150565.

Zappa, G; LoMauro, A; Baranello, G; Cavallo, E; Corti, P; Mastella, C; Costantino, MA; (2021) Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. Journal of Neurodevelopmental Disorders , 13 , Article 9. 10.1186/s11689-021-09355-4.

Zech, M; Kumar, KR; Reining, S; Reunert, J; Tchan, M; Riley, LG; Drew, AP; ... Boesch, S; + view all Zech, M; Kumar, KR; Reining, S; Reunert, J; Tchan, M; Riley, LG; Drew, AP; Adam, RJ; Berutti, R; Biskup, S; Derive, N; Bakhtiari, S; Jin, SC; Kruer, MC; Bardakjian, T; Gonzalez-Alegre, P; Keller Sarmiento, IJ; Mencacci, NE; Lubbe, SJ; Kurian, MA; Clot, F; Méneret, A; de Sainte Agathe, J-M; Fung, VSC; Vidailhet, M; Baumann, M; Marquardt, T; Winkelmann, J; Boesch, S; - view fewer (2021) Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Movement Disorders 10.1002/mds.28804. (In press).

Zhang, WB; Ross, PJ; Tu, Y; Wang, Y; Beggs, S; Sengar, AS; Ellis, J; Zhang, WB; Ross, PJ; Tu, Y; Wang, Y; Beggs, S; Sengar, AS; Ellis, J; Salter, MW; - view fewer (2016) Fyn Kinase regulates GluN2B subunit-dominant NMDA receptors in human induced pluripotent stem cell-derived neurons. Scientific Reports , 6 , Article 23837. 10.1038/srep23837.

Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; ... Muntoni, Francesco; + view all Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; Catapano, Francesco; Meng, Jinhong; Zhang, Qiang; Hunter, Gillian; Shorrock, Hannah K; Ng, Thomas K; Hamida, Abedallah; Sanson, Mathilde; Baranello, Giovanni; Howell, Kevin; Gillingwater, Thomas H; Brogan, Paul; Thompson, Dorothy A; Parson, Simon H; Muntoni, Francesco; - view fewer (2022) Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect. Journal of Clinical Investigation , 132 (21) , Article e153430. 10.1172/JCI153430.

Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; ... Muntoni, F; + view all Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; Lu-Nguyen, N; Sun, L; Mariot, V; Dumonceaux, J; Morgan, JE; Gissen, P; Dickson, G; Muntoni, F; - view fewer (2020) Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12542. (In press).

Zhou, H; Muntoni, F; (2020) The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al . [Letter]. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12608. (In press).

Zhou, H; Muntoni, F; (2018) Morpholino-Mediated Exon Inclusion for SMA. Exon Skipping and Inclusion Therapies , 1828 pp. 467-477. 10.1007/978-1-4939-8651-4_29.

Zhou, H; Rokach, O; Feng, L; Munteanu, I; Mamchaoui, K; Wilmshurst, JM; Sewry, C; ... Muntoni, F; + view all Zhou, H; Rokach, O; Feng, L; Munteanu, I; Mamchaoui, K; Wilmshurst, JM; Sewry, C; Manzur, AY; Pillay, K; Mouly, V; Duchen, M; Jungbluth, H; Treves, S; Muntoni, F; - view fewer (2013) RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling. Human Mutation , 34 (7) pp. 986-996. 10.1002/humu.22326.

Zuberi, Sameer M; Wirrell, Elaine; Yozawitz, Elissa; Wilmshurst, Jo M; Specchio, Nicola; Riney, Kate; Pressler, Ronit; ... Nabbout, Rima; + view all Zuberi, Sameer M; Wirrell, Elaine; Yozawitz, Elissa; Wilmshurst, Jo M; Specchio, Nicola; Riney, Kate; Pressler, Ronit; Auvin, Stephane; Samia, Pauline; Hirsch, Edouard; Galicchio, Santiago; Triki, Chahnez; Snead, O Carter; Wiebe, Samuel; Cross, J Helen; Tinuper, Paolo; Scheffer, Ingrid E; Perucca, Emilio; Moshé, Solomon L; Nabbout, Rima; - view fewer (2022) ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 10.1111/epi.17239.

Zwi-Dantsis, L; Wang, B; Marijon, C; Zonetti, S; Ferrini, A; Massi, L; Stuckey, DJ; ... Stevens, MM; + view all Zwi-Dantsis, L; Wang, B; Marijon, C; Zonetti, S; Ferrini, A; Massi, L; Stuckey, DJ; Terracciano, CM; Stevens, MM; - view fewer (2019) Remote Magnetic Nanoparticle Manipulation Enables the Dynamic Patterning of Cardiac Tissues. Advanced Materials , Article e1904598. 10.1002/adma.201904598. (In press).

Zwi-Dantsis, L; Winter, CW; Kauscher, U; Ferrini, A; Wang, B; Whittaker, TE; Hood, SR; ... Stevens, MM; + view all Zwi-Dantsis, L; Winter, CW; Kauscher, U; Ferrini, A; Wang, B; Whittaker, TE; Hood, SR; Terracciano, CM; Stevens, MM; - view fewer (2020) Highly purified extracellular vesicles from human cardiomyocytes demonstrate preferential uptake by human endothelial cells. Nanoscale 10.1039/d0nr04278a. (In press).