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Number of items: 208.

Article

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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; 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).

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.

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.

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.

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.

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, 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.

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.

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.

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).

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.

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.

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).

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.

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; (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; 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).

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.

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.

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, 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.

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.

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.

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; 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.

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 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 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.

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; 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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.

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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.

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, 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.

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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.

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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.

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.

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.

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.

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.

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).

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.

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.

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 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 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.

Vargha-Khadem, F; Cacucci, F; (2021) A brief history of developmental amnesia. Neuropsychologia , 150 , Article 107689. 10.1016/j.neuropsychologia.2020.107689.

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.

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.

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).

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.

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.

Walker, SM; (2021) Developmental Mechanisms of CPSP: Clinical Observations and Translational Laboratory Evaluations. Canadian Journal of Pain 10.1080/24740527.2021.1999796. (In press).

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).

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.

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 , Article 118020. 10.1016/j.neuroimage.2021.118020. (In press).

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.

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.

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).

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.

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).

Book

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

Book chapter

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.

Proceedings paper

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.

Conference item

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.

Thesis

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

Pimpel, Birgit; (2021) Advanced Invasive Neurophysiological Methods to Aid Decision Making in Paediatric Epilepsy Surgery. Doctoral thesis (Ph.D), UCL (University College London).

This list was generated on Mon Apr 22 01:11:30 2024 BST.