Deposit your research

• Open Access
• About UCL Discovery
• UCL Discovery Plus
• REF and open access
• UCL Press
• UCL e-theses guidelines
• Statistics
• FAQs
• Notices and policies
• Contact us

Browse by UCL Departments and Centres

Up a level

Export as ASCII CitationBibTeXEndNoteHTML CitationMultiline CSVObject IDsRDF+N-TriplesRDF+N3RDF+XMLReferReference Manager

Atom RSS 1.0 RSS 2.0

Group by: Author | Type

Jump to: A | B | C | D | E | F | G | H | J | K | L | M | N | O | P | R | S | T | V | W | Y | Z

Number of items: 205.

A

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.

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.

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; 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.

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.

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.

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.

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.

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.

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).

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.

B

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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).

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.

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, 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.

D

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.

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.

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.

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.

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.

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; 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.

E

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.

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.

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.

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.

F

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.

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.

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, 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).

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.

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.

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).

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.

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.

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).

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).

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.

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.

H

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.

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.

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.

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.

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.

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.

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.

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

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; 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.

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).

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.

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

J

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).

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.

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.

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).

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.

K

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.

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.

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.

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, 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 , Article e47967. 10.15252/embr.201947967. (In press).

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.

L

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.

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.

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.

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; 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, 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; 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.

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.

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.

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).

M

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 10.1177/0883073819840449. (In press).

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 , Article e201900167. 10.1002/jbio.201900167. (In press).

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.

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.

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.

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.

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.

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.

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.

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.

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).

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).

Mercuri, E; Bonnemann, CG; Muntoni, F; (2019) Muscular dystrophies. The Lancet , 394 (10213) pp. 2025-2038. 10.1016/S0140-6736(19)32910-1.

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.

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.

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.

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.

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.

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, 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; 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)

N

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.

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).

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.

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, F; (2019) Cannabis derived medicinal products in child neurology. Cannabis derived medicinal products in child neurology , 61 (6) p. 622. 10.1111/dmcn.14232.

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; 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.

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.

P

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.

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.

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.

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).

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.

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.

Pressler, RM; (2019) Neugeborenenanfälle. Zeitschrift fur Epileptologie , 32 (2) pp. 98-106. 10.1007/s10309-018-0244-4.

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

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.

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.

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; 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.

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.

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, 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.

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.

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.

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.

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.

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; 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; 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; 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; 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; 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.

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.

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).

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.

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

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).

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.

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.

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.

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.

T

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.

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).

V

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 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 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).

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).

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.

W

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; (2019) Long-term effects of neonatal pain. Seminars in Fetal and Neonatal Medicine , 24 (4) , Article 101005. 10.1016/j.siny.2019.04.005.

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.

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.

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.

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.

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.

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.

Z

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).

This list was generated on Mon Nov 18 03:30:46 2024 GMT.