Anoctamin 10‐Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship

The autosomal recessive cerebellar ataxias are a heterogeneous group of neurodegenerative disorders. Mutations in the anoctamin 10 gene (ANO10) recently have been identified as a cause of autosomal recessive spinocerebellar ataxia type 10. Comprehensive phenotypic data are provided on 3 siblings wit...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Bogdanova‐Mihaylova, Petya, Austin, Neil, Alexander, Michael D., Cassidy, Lorraine, Early, Anne, Murphy, Raymond P., Murphy, Sinéad M., Walsh, Richard A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Case Series
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6353423/
https://ncbi.nlm.nih.gov/pubmed/30838263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12396
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