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...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Springer Berlin Heidelberg
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971038/ |