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A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Beecroft, Sarah J; Cortese, Andrea; Sullivan, Roisin; Yau, Wai Yan; Dyer, Zoe; Wu, Teddy Y; Mulroy, Eoin; Pelosi, Luciana; Rodrigues, Miriam; Taylor, Rachael; Mossman, Stuart; Leadbetter, Ruth; Cleland, James; Anderson, Tim; Ravenscroft, Gianina; Laing, Nigel G; Houlden, Henry; Reilly, Mary M; Roxburgh, Richard H.
Afiliación
  • Beecroft SJ; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
  • Cortese A; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Sullivan R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Yau WY; 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.
  • Mulroy E; Neurology Department, Auckland City Hospital, Auckland, New Zealand.
  • Pelosi L; Department of Neurology, Christchurch Hospital, Christchurch, New Zealand.
  • Rodrigues M; Neurology Department, Auckland City Hospital, Auckland, New Zealand.
  • Taylor R; Neurology Department, Auckland City Hospital, Auckland, New Zealand.
  • Mossman S; Neurology Department, Auckland City Hospital, Auckland, New Zealand.
  • Leadbetter R; Centre for Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand.
  • Cleland J; Neurology Department, Wellington Hospital, Wellington, New Zealand.
  • Anderson T; Neurology Department, Wellington Hospital, Wellington, New Zealand.
  • Ravenscroft G; Neurology Department, Tauranga Hospital, Tauranga, New Zealand.
  • Laing NG; Department of Neurology, Christchurch Hospital, Christchurch, New Zealand.
  • Houlden H; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
  • Reilly MM; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Roxburgh RH; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia.
Brain ; 143(9): 2673-2680, 2020 09 01.
Article en En | MEDLINE | ID: mdl-32851396
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Efecto Fundador / Nativos de Hawái y Otras Islas del Pacífico / Alelos / Proteína de Replicación C / Vestibulopatía Bilateral Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Efecto Fundador / Nativos de Hawái y Otras Islas del Pacífico / Alelos / Proteína de Replicación C / Vestibulopatía Bilateral Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Australia