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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; de Jonghe, Peter; Anheim, Mathieu; Taroni, Franco; Bauer, Peter.
Afiliação
  • Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany matthis.synofzik@uni-tuebingen.de.
  • Smets K; Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium Department of Neurology, Antwerp University Hospital, Belgium Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
  • Mallaret M; Department of Neurology, Hôpital de Hautepierre, Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Collège de France, 67404 Illkirch, France.
  • Di Bella D; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Gallenmüller C; Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
  • Baets J; Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium Department of Neurology, Antwerp University Hospital, Belgium Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
  • Schulze M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
  • Magri S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Sarto E; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mustafa M; Department of Nuclear Medicine, Ludwig-Maximilians-University, Munich, Germany.
  • Deconinck T; Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
  • Haack T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Züchner S; 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, USA.
  • Gonzalez M; 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, USA.
  • Timmann D; Department of Neurology, University of Duisburg-Essen, Essen, Germany.
  • Stendel C; Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Klopstock T; Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany German Research Center for Neurodegenerative Diseases (DZNE), Munich, Germany Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
  • Durr A; APHP Genetic department and Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (ICM), UPMC University Paris VI, UMR975; CNRS UMR 7225; INSERM U975; University Hospital Pitié-Salpêtrière, 75013 Paris, France.
  • Tranchant C; Department of Neurology, Hôpital de Hautepierre, Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Collège de France, 67404 Illkirch, France.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
  • Hamza W; Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, USTHB, Algiers, Algeria.
  • Nanetti L; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mariotti C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Koenig M; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Collège de France, 67404 Illkirch, France Laboratoire de Genetique de Maladies Rares, EA 7402, Institut Universitaire de Recherche Clinique, Université et CHU de Montpellier, 34
  • Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany.
  • Schüle R; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Inst
  • de Jonghe P; Neurogenetics Group, Department of Molecular Genetics, University of Antwerp, VIB Belgium Department of Neurology, Antwerp University Hospital, Belgium Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
  • Anheim M; Department of Neurology, Hôpital de Hautepierre, Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Collège de France, 67404 Illkirch, France Fédération de Médecine Translationnelle de Strasbourg (FMTS), Unive
  • Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
Brain ; 139(Pt 5): 1378-93, 2016 05.
Article em En | MEDLINE | ID: mdl-27086870
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Ataxia Cerebelar / Transtornos Heredodegenerativos do Sistema Nervoso / Proteínas do Tecido Nervoso Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Ataxia Cerebelar / Transtornos Heredodegenerativos do Sistema Nervoso / Proteínas do Tecido Nervoso Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha