Učitavanje...
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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| Izdano u: | J Neurol |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer Berlin Heidelberg
2016
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| Teme: | |
| Online pristup: | 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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