22
TITLE: CLN8 disease caused by large genomic deletions
AUTHORS: Clare Beesley; Rita J Guerreiro; Jose T Bras; Ruth E Williams; Ana Lia Taratuto; Christin Eltze; Sara E Mole;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 5, ISSUE: 1
INDEXED IN: Scopus WOS
23
TITLE: Study protocol: Insight 46-a neuroscience sub-study of the MRC National Survey of Health and Development  Full Text
AUTHORS: Christopher A Lane; Thomas D Parker; Dave M Cash; Kirsty Macpherson; Elizabeth Donnachie; Heidi Murray Smith; Anna Barnes; Suzie Barker; Daniel G Beasley; Jose Bras; David Brown; Ninon Burgos; Michelle Byford; Jorge J Cardoso; Ana Carvalho; Jessica Collins; Enrico De Vita; John C Dickson; Norah Epie; Miklos Espak; Susie M D Henley; Chandrashekar Hoskote; Michael Hutel; Jana Klimova; Ian B Malone; Pawel Markiewicz; Andrew Melbourne; Marc Modat; Anette Schrag; Sachit Shah; Nikhil Sharma; Carole H Sudre; David L Thomas; Andrew Wong; Hui Zhang; John Hardy; Henrik Zetterberg; Sebastien Ourselin; Sebastian J Crutch; Diana Kuh; Marcus Richards; Nick C Fox; Jonathan M Schott; ...More
PUBLISHED: 2017, SOURCE: BMC NEUROLOGY, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
24
TITLE: Multi-infarct dementia of Swedish type is caused by a 3 ' UTR mutation of COL4A1  Full Text
AUTHORS: Maija Siitonen; Anne Borjesson Hanson; Minna Poyhonen; Ari Ora; Petra Pasanen; Jose Bras; Silke Kern; Jurgen Kern; Oluf Andersen; Horia Stanescu; Robert Kleta; Marc Baumann; Rajesh Kalaria; Hannu Kalimo; Andy Singleton; John Hardy; Matti Viitanen; Liisa Myllykangas; Rita Guerreiro;
PUBLISHED: 2017, SOURCE: BRAIN, VOLUME: 140, ISSUE: 5
INDEXED IN: Scopus WOS
25
TITLE: Study protocol: Insight 46 - a neuroscience sub-study of the MRC National Survey of Health and Development
AUTHORS: Lane, CA; Parker, TD; Cash, DM; Macpherson, K; Donnachie, E; Murray Smith, H; Barnes, A; Barker, S; Beasley, DG; Bras, J; Brown, D; Burgos, N; Byford, M; Jorge Cardoso, M; Carvalho, A; Collins, J; De Vita, E; Dickson, JC; Epie, N; Espak, M; Henley, SMD; Hoskote, C; Hutel, M; Klimova, J; Malone, IB; Markiewicz, P; Melbourne, A; Modat, M; Schrag, A; Shah, S; Sharma, N; Sudre, CH; Thomas, DL; Wong, A; Zhang, H; Hardy, J; Zetterberg, H; Ourselin, S; Crutch, SJ; Kuh, D; Richards, M; Fox, NC; Schott, JM; ...More
PUBLISHED: 2017, SOURCE: BMC Neurology, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus
26
TITLE: TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus
AUTHORS: Adeline Ngoh; Jose Bras; Rita Guerreiro; Amy McTague; Joanne Ng; Esther Meyer; Kling K Chong; Stewart Boyd; Linda MacLellan; Martin Kirkpatrick; Manju A Kurian;
PUBLISHED: 2017, SOURCE: TREMOR AND OTHER HYPERKINETIC MOVEMENTS, VOLUME: 7
INDEXED IN: Scopus WOS
27
TITLE: TBC1D24 Mutations in a Sibship with Multifocal Polymyocl2
AUTHORS: Adeline Ngoh; Jose Bras; Rita Guerreiro; Amy McTague; Joanne Ng; Esther Meyer; Kling K Chong; Stewart Boyd; Linda MacLellan; Martin Kirkpatrick; Manju A Kurian;
PUBLISHED: 2017, SOURCE: TREMOR AND OTHER HYPERKINETIC MOVEMENTS
INDEXED IN: WOS
28
TITLE: CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result  Full Text
AUTHORS: Leito, MJ; Baldeiras, I; Almeida, MR; Ribeiro, MH; Santos, AC; Ribeiro, M; Tomas, J; Rocha, S; Santana, I; Oliveira, CR;
PUBLISHED: 2016, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 263, ISSUE: 9
INDEXED IN: WOS
29
TITLE: Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation  Full Text
AUTHORS: Guerreiro, R; Bras, J; Batista, S; Pires, P; Ribeiro, MH; Almeida, MR; Oliveira, C; Hardy, J; Santana, I;
PUBLISHED: 2016, SOURCE: GENES BRAIN AND BEHAVIOR, VOLUME: 15, ISSUE: 7
INDEXED IN: WOS
30
TITLE: Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients  Full Text
AUTHORS: Gamze Guven; Ebba Lohmann; Jose Bras; Raphael R Gibbs; Hakan Gurvit; Basar Bilgic; Hasmet Hanagasi; Patrizia Rizzu; Peter Heutink; Murat Emre; Nihan Erginel Unaltuna; Walter Just; John Hardy; Andrew Singleton; Rita Guerreiro;
PUBLISHED: 2016, SOURCE: PLOS ONE, VOLUME: 11, ISSUE: 9
INDEXED IN: Scopus WOS
Página 3 de 6. Total de resultados: 53.