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The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Yau, Wai Yan; Raposo, Mafalda; Bettencourt, Conceição; Labrum, Robyn; Vasconcelos, João; Parkinson, Michael H; Giunti, Paola; Wood, Nicholas W; Lima, Manuela; Houlden, Henry.
Afiliação
  • Yau WY; Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.
  • Raposo M; Faculty of Sciences and Technology, University of Azores, Ponta Delgada, Portugal.
  • Bettencourt C; Institute for Molecular and Cell Biology, Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal.
  • Labrum R; The Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Vasconcelos J; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
  • Parkinson MH; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Giunti P; Department of Neurology, Hospital of Divino Espírito Santo, Ponta Delgada, Portugal.
  • Wood NW; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
  • Lima M; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
  • Houlden H; Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK.
Brain ; 143(4): e25, 2020 04 01.
Article em En | MEDLINE | ID: mdl-32154839

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia de Friedreich / Doença de Machado-Joseph / Distrofia Miotônica Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia de Friedreich / Doença de Machado-Joseph / Distrofia Miotônica Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
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