Open AccessMultisystemicSYNE1ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum
Author(s) -
Inès Mademan,
Florian Harmuth,
Ilaria Giordano,
Dagmar Timmann,
Stefania Magri,
Tine Deconinck,
Jens Claaßen,
Daniel Jokisch,
Gençer Genç,
Daniela Di Bella,
Silvia Romito,
Rebecca Schüle,
Stephan Züchner,
Franco Taroni,
Thomas Klockgether,
Lüdger Schöls,
Peter De Jonghe,
Peter Bauer,
EOA Consortium,
Jonathan Baets,
Matthis Synofzik
Publication year - 2016
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/aww115
Subject(s) - ataxia , missense mutation , genetics , amyotrophic lateral sclerosis , cerebellar ataxia , phenotype , medicine , biology , disease , neuroscience , pathology , gene
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