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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Iruzubieta, Pablo; Pellerin, David; Bergareche, Alberto; Albajar, Inés; Mondragón, Elisabet; Vinagre, Ana; Fernández-Torrón, Roberto; Moreno, Fermín; Equiza, Jon; Campo-Caballero, David; Poza, Juan José; Ruibal, Marta; Formica, Alessandro; Dicaire, Marie-Josée; Danzi, Matt C; Zuchner, Stephan; Croitoru, Ioana; Ruiz, Montserrat; Schlüter, Agatha; Casasnovas, Carlos; Pujol, Aurora; Brais, Bernard; Houlden, Henry; López de Munain, Adolfo; Ruiz-Martínez, Javier.
Affiliation
  • Iruzubieta P; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Pellerin D; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Bergareche A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology London and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Albajar I; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology London and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Mondragón E; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
  • Vinagre A; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Fernández-Torrón R; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Moreno F; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Equiza J; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Campo-Caballero D; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Poza JJ; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Ruibal M; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Formica A; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Dicaire MJ; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Danzi MC; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Zuchner S; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Croitoru I; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Ruiz M; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Schlüter A; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Casasnovas C; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Pujol A; Department of Neurology, Donostia University Hospital, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain.
  • Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
  • Houlden H; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
  • López de Munain A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
  • Ruiz-Martínez J; CIBERNED Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
Eur J Neurol ; 30(12): 3828-3833, 2023 12.
Article in En | MEDLINE | ID: mdl-37578187
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Spinocerebellar Ataxias Limits: Aged / Humans / Middle aged Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: Spain
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Spinocerebellar Ataxias Limits: Aged / Humans / Middle aged Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: Spain