title: Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
authors.affiliation: 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
authors.forename: Inès
authors.initials: I
authors.lastname: Mademan
authors.affiliation: 3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
authors.forename: Florian
authors.initials: F
authors.lastname: Harmuth
authors.affiliation: 4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Giordano
authors.affiliation: 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Timmann
authors.affiliation: 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Magri
authors.affiliation: 1 Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium 2 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.
authors.forename: Tine
authors.initials: T
authors.lastname: Deconinck
authors.affiliation: 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
authors.forename: Jens
authors.initials: J
authors.lastname: Claaßen
authors.affiliation: 6 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
authors.forename: Daniel
authors.initials: D
authors.lastname: Jokisch
authors.affiliation: 8 Department of Neurology, Gumussuyu Military Hospital, Istanbul, Turkey.
authors.forename: Gencer
authors.initials: G
authors.lastname: Genc
authors.affiliation: 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Bella
authors.affiliation: 9 Division of Neurology, Department of Neuroscience, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Romito
authors.affiliation: 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.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Schüle
authors.affiliation: 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.
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
authors.affiliation: 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.affiliation: 4 Department of Neurology, University Hospital of Bonn, Germany 5 German Research Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Klockgether
authors.affiliation: 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.
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.affiliation: 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.
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
authors.affiliation: 3 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Eoa
authors.initials: E
authors.lastname: Consortium
authors.affiliation: 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.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Baets
authors.affiliation: 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.
authors.forename: Matthis
authors.initials: M
authors.lastname: Synofzik
mesh_terms: D001259:Ataxia; D002524:Cerebellar Ataxia; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D010641:Phenotype