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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Scriba, Carolin K; Beecroft, Sarah J; Clayton, Joshua S; Cortese, Andrea; Sullivan, Roisin; Yau, Wai Yan; Dominik, Natalia; Rodrigues, Miriam; Walker, Elizabeth; Dyer, Zoe; Wu, Teddy Y; Davis, Mark R; Chandler, David C; Weisburd, Ben; Houlden, Henry; Reilly, Mary M; Laing, Nigel G; Lamont, Phillipa J; Roxburgh, Richard H; Ravenscroft, Gianina.
Afiliação
  • Scriba CK; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
  • Beecroft SJ; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Clayton JS; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Cortese A; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
  • Sullivan R; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Yau WY; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
  • Dominik N; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Rodrigues M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Walker E; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
  • Dyer Z; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Wu TY; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Davis MR; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Chandler DC; Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand.
  • Weisburd B; Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand.
  • Houlden H; Neurology Department, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand.
  • Reilly MM; Department of Neurology, Christchurch Hospital, Christchurch, New Zealand.
  • Laing NG; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Lamont PJ; Australian Genome Research Facility, Harry Perkins, Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Roxburgh RH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Ravenscroft G; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Brain ; 143(10): 2904-2910, 2020 10 01.
Article em En | MEDLINE | ID: mdl-33103729
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Expansão das Repetições de DNA / Povo Asiático / Proteína de Replicação C / Vestibulopatia Bilateral Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Expansão das Repetições de DNA / Povo Asiático / Proteína de Replicação C / Vestibulopatia Bilateral Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália