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Number of items: 205.

Article

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.

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.

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.

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.

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.

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; 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.

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.

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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.

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.

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.

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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.

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.

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).

Book chapter

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

Proceedings paper

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.

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)

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.

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

Conference item

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.

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.

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

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.

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.

Poster

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.

Thesis

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

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).

This list was generated on Mon Nov 25 01:10:14 2024 GMT.