Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum
多系统性SYNE1共济失调：证实其高发病率并扩展其突变和表型谱
期刊:Brain
影响因子:11.7
doi:10.1093/brain/aww115
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
