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Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
Pellerin, David; Wilke, Carlo; Traschütz, Andreas; Nagy, Sara; Currò, Riccardo; Dicaire, Marie-Josée; Garcia-Moreno, Hector; Anheim, Mathieu; Wirth, Thomas; Faber, Jennifer; Timmann, Dagmar; Depienne, Christel; Rujescu, Dan; Gazulla, José; Reilly, Mary M; Giunti, Paola; Brais, Bernard; Houlden, Henry; Schöls, Ludger; Strupp, Michael; Cortese, Andrea; Synofzik, Matthis.
Afiliação
  • Pellerin D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK matthis.synofzik@uni-tuebingen.de david.pellerin.21@ucl.ac.uk.
  • Wilke C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
  • Traschütz A; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Nagy S; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Currò R; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Dicaire MJ; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Garcia-Moreno H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Anheim M; Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Wirth T; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Faber J; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Timmann D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
  • Depienne C; Ataxia Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Rujescu D; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
  • Gazulla J; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
  • Reilly MM; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Giunti P; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
  • Brais B; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Houlden H; Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • Schöls L; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Strupp M; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
  • Cortese A; Institute of Human Genetics, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
  • Synofzik M; Department of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
J Neurol Neurosurg Psychiatry ; 95(2): 175-179, 2024 Jan 11.
Article em En | MEDLINE | ID: mdl-37399286
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polineuropatias / Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Vestibulopatia Bilateral Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polineuropatias / Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Vestibulopatia Bilateral Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Ano de publicação: 2024 Tipo de documento: Article