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pro vyhledávání: '"Francine Couvreur"'
Autor:
Jean Jacques Martin, Paul M. Parizel, Peter De Jonghe, Jonathan Baets, Christina Jadoul, Elena I. Rugarli, Franco Taroni, Tine Deconinck, Anne Sieben, Robert De Potter, Wim Van Hecke, Shuaiyu Wang, Daniela Di Bella, Iris Smouts, Francine Couvreur, Katrien Smets
Publikováno v:
Neurology
Objective: To identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (SCA28) with ptosis in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain auto