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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Detalles Bibliográficos
Autores principales: Wiethoff, Sarah, Hersheson, Joshua, Bettencourt, Conceicao, Wood, Nicholas W., Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971038/
https://www.ncbi.nlm.nih.gov/pubmed/27178001
http://dx.doi.org/10.1007/s00415-016-8148-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971038/
https://www.ncbi.nlm.nih.gov/pubmed/27178001
http://dx.doi.org/10.1007/s00415-016-8148-6

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