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Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
Hadjivassiliou, Marios; Currò, Riccardo; Beauchamp, Nick; Dominik, Natalia; Grunewald, Richard A; Shanmugarajah, Priya; Zis, Panayiotis; Hoggard, Nigel; Cortese, Andrea.
Afiliación
  • Hadjivassiliou M; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK m.hadjivassiliou@sheffield.ac.uk.
  • Currò R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Beauchamp N; Department of Brain and Bahavioural Sciences, University of Pavia, Pavia, Italy.
  • Dominik N; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
  • Grunewald RA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Shanmugarajah P; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK.
  • Zis P; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, UK.
  • Hoggard N; Academic Department of Neurology, University of Cyprus, Nicosia, Cyprus.
  • Cortese A; Department of Infection, Immunity and Cardiovascular Disease, The University of Sheffield, Sheffield, UK.
J Neurol Neurosurg Psychiatry ; 95(2): 171-174, 2024 Jan 11.
Article en En | MEDLINE | ID: mdl-37414537
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Vestibulopatía Bilateral Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Vestibulopatía Bilateral Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido