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Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Mademan, Inès; Harmuth, Florian; Giordano, Ilaria; Timmann, Dagmar; Magri, Stefania; Deconinck, Tine; Claaßen, Jens; Jokisch, Daniel; Genc, Gencer; Di Bella, Daniela; Romito, Silvia; Schüle, Rebecca; Züchner, Stephan; Taroni, Franco; Klockgether, Thomas; Schöls, Ludger; De Jonghe, Peter; Bauer, Peter; Consortium, Eoa; Baets, Jonathan; Synofzik, Matthis.
Afiliación
  • Mademan I; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
  • Harmuth F; 3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
  • Giordano I; 4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Timmann D; 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
  • Magri S; 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Deconinck T; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
  • Claaßen J; 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
  • Jokisch D; 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
  • Genc G; 8 Department of Neurology, Gumussuyu Military Hospital, Istanbul, Turkey.
  • Di Bella D; 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Romito S; 9 Division of Neurology, Department of Neuroscience, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
  • Schüle R; 10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Züchner S; 12 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.
  • Taroni F; 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Klockgether T; 4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Schöls L; 10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • De Jonghe P; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium 13 Department of Neurology, Antwerp University Hospital, Belgium.
  • Bauer P; 3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
  • Baets J; 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium 13 Department of Neurology, Antwerp University Hospital, Belgium.
  • Synofzik M; 10 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany 11 German Research Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany matthis.synofzik@uni-tuebingen.de.
Brain ; 139(Pt 8): e46, 2016 08.
Article en En | MEDLINE | ID: mdl-27197992

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Ataxia Cerebelosa Límite: Humans Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: Bélgica

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia / Ataxia Cerebelosa Límite: Humans Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: Bélgica