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Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

The autosomal recessive spinocerebellar ataxias are an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. SYNE1 was originally discovered in 2007 as the causal gene underlying autosomal recessive spinocerebellar ataxia 1, a disease clinically thought...

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Detalhes bibliográficos
Publicado no:J Neurol
Main Authors: Wiethoff, Sarah, Hersheson, Joshua, Bettencourt, Conceicao, Wood, Nicholas W., Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4971038/
https://ncbi.nlm.nih.gov/pubmed/27178001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-016-8148-6
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