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Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Obayashi, Masato; Stevanin, Giovanni; Synofzik, Matthis; Monin, Marie-Lorraine; Duyckaerts, Charles; Sato, Nozomu; Streichenberger, Nathalie; Vighetto, Alain; Desestret, Virginie; Tesson, Christelle; Wichmann, H-Erich; Illig, Thomas; Huttenlocher, Johanna; Kita, Yasushi; Izumi, Yuishin; Mizusawa, Hidehiro; Schöls, Ludger; Klopstock, Thomas; Brice, Alexis; Ishikawa, Kinya; Dürr, Alexandra.
Afiliación
  • Obayashi M; Department of Neurology and Neurological Sciences, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
  • Stevanin G; Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France AP-HP, Groupe Hospitalier Pitié-Salpêtriére, Departement of Genetics and Cytogenetics, Paris, France Ecole Pratique des Hautes Etudes, Groupe de Neur
  • Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Tübingen, Germany German Centre of Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.
  • Monin ML; Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France.
  • Duyckaerts C; Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France Laboratoire de Neuropathologie R. Escourolle, Groupe Hospitalier Pitié-Salpêtrière, 47 Blvd de l'Hôpital, Paris, France.
  • Sato N; Department of Neurology and Neurological Sciences, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
  • Streichenberger N; Pathology and Biochemistry, Groupement Hospitalier Est, Hospices Civils de Lyon/Claude Bernard University, Lyon, France.
  • Vighetto A; Neurology Department, Hôpital Pierre Wertheimer, Lyon, France.
  • Desestret V; Neurology D, Hospices Civils de Lyon, Hôpital Neurologique, Bron, France Lyon Neuroscience Research Center, INSERM U1028/CNRS UMR 5292, Lyon, France Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.
  • Tesson C; Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France Ecole Pratique des Hautes Etudes, Groupe de Neurogénétique, Paris, France.
  • Wichmann HE; Institute of Epidemiology I, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany Institute of Medical Informatics, Biometry and Epidemiology, Chair of Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany.
  • Illig T; Unit for Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
  • Huttenlocher J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kita Y; Neurology Service, Hyogo Brain and Heart Center at Himeji, Himeji, Hyogo, Japan.
  • Izumi Y; Department of Clinical Neuroscience, The University of Tokushima Graduate School, Tokushima, Japan.
  • Mizusawa H; Department of Neurology and Neurological Sciences, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
  • Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Tübingen, Germany German Centre of Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.
  • Klopstock T; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität München, Munich, Germany German Network for Mitochondrial Disorders (mitoNET) DZNE-German Center for Neurodegenerative Diseases, Munich, Germany German Center for Vertigo and Balance Disorders, Munich, Germany.
  • Brice A; Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France AP-HP, Groupe Hospitalier Pitié-Salpêtriére, Departement of Genetics and Cytogenetics, Paris, France.
  • Ishikawa K; Department of Neurology and Neurological Sciences, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
  • Dürr A; Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France AP-HP, Groupe Hospitalier Pitié-Salpêtriére, Departement of Genetics and Cytogenetics, Paris, France.
J Neurol Neurosurg Psychiatry ; 86(9): 986-95, 2015 Sep.
Article en En | MEDLINE | ID: mdl-25476002
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Ataxias Espinocerebelosas / Proteínas del Tejido Nervioso Tipo de estudio: Risk_factors_studies Límite: Aged80 / Female / Humans / Male Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2015 Tipo del documento: Article País de afiliación: Japón
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Ataxias Espinocerebelosas / Proteínas del Tejido Nervioso Tipo de estudio: Risk_factors_studies Límite: Aged80 / Female / Humans / Male Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2015 Tipo del documento: Article País de afiliación: Japón