ProfileOfResearchers

TITLE: TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex Full Text
AUTHORS: Kingswood, JC; Belousova, E; Benedik, MP; Budde, K; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; Nabbout, R; O'Callaghan, F; Qin, J; Sander, V; Sauter, M; Shah, SM; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; ...More
PUBLISHED: 2021, SOURCE: FRONTIERS IN NEUROLOGY, VOLUME: 12

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TITLE: Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry Full Text
AUTHORS: Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; D'Amato, L; d'Augeres, GB; de Vries, PJ; Ferreira, JC; Feucht, M; Fladrowski, C; Hertzberg, C; Jozwiak, S; Lawson, JA; Macaya, A; Marques, R; O'Callaghan, F; Qin, J; Sauter, M; Shah, S; Takahashi, Y; Touraine, R; Youroukos, S; Zonnenberg, B; Jansen, AC; Kingswood, JC; ...More
PUBLISHED: 2021, SOURCE: FRONTIERS IN NEUROLOGY, VOLUME: 12

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TITLE: Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
AUTHORS: Mahmoud R Fassad; Mitali P Patel; Amelia Shoemark; Thomas Cullup; Jane Hayward; Mellisa Dixon; Andrew V Rogers; Sarah Ollosson; Claire Jackson; Patricia Goggin; Robert A Hirst; Andrew Rutman; James Thompson; Lucy Jenkins; Paul Aurora; Eduardo Moya; Philip Chetcuti; Chris O'Callaghan; Deborah J Morris Rosendahl; Christopher M Watson; Robert Wilson; Siobhan Carr; Woolf Walker; Andreia Pitno; Susana Lopes; Heba Morsy; Walaa Shoman; Luisa Pereira; Carolina Constant; Michael R Loebinger; Eddie M K Chung; Priti Kenia; Nisreen Rumman; Nader Fasseeh; Jane S Lucas; Claire Hogg; Hannah M Mitchison; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, ISSUE: 5

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TITLE: Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington?s disease Young Adult Study (HD-YAS): a cross-sectional analysis Full Text
AUTHORS: Rachael I Scahill; Paul Zeun; Katherine Osborne Crowley; Eileanoir B Johnson; Sarah Gregory; Christopher Parker; Jessica Lowe; Akshay Nair; Claire O'Callaghan; Christelle Langley; Marina Papoutsi; Peter McColgan; Carlos Estevez Fraga; Kate Fayer; Henny Wellington; Filipe B Rodrigues; Lauren M Byrne; Amanda Heselgrave; Harpreet Hyare; Cristina Sampaio; Henrik Zetterberg; Hui Zhang; Edward J Wild; Geraint Rees; Trevor W Robbins; Barbara J Sahakian; Douglas Langbehn; Sarah J Tabrizi; ...More
PUBLISHED: 2020, SOURCE: LANCET NEUROLOGY, VOLUME: 19, ISSUE: 6

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TITLE: Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1
AUTHORS: Lopes, CAM; Prosser, SL; Romio, L; Hirst, RA; O'Callaghan, C; Woolf, AS; Fry, AM;
PUBLISHED: 2011, SOURCE: Journal of Cell Science, VOLUME: 124, ISSUE: 4

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TITLE: Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children Full Text
AUTHORS: Barbato, A; Frischer, T; Kuehni, CE; Snijders, D; Azevedo, I ; Baktai, G; Bartoloni, L; Eber, E; Escribano, A; Haarman, E; Hesselmar, B; Hogg, C; Jorissen, M; Lucas, J; Nielsen, KG; O'Callaghan, C; Omran, H; Pohunek, P; Strippoli, MPF; Bush, A;
PUBLISHED: 2009, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 34, ISSUE: 6

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