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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:J Neurol
Glavni autori: Wiethoff, Sarah, Hersheson, Joshua, Bettencourt, Conceicao, Wood, Nicholas W., Houlden, Henry
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2016
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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!