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

View Supplementary Video 1 View Supplementary Video 2 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. Compre...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Movement disorders clinical practice (Hoboken, N.J.) N.J.), 2017-03, Vol.4 (2), p.258-262
Hauptverfasser:	Bogdanova‐Mihaylova, Petya, Austin, Neil, Alexander, Michael D., Cassidy, Lorraine, Early, Anne, Murphy, Raymond P., Murphy, Sinéad M., Walsh, Richard A.
Format:	Artikel
Sprache:	eng
Schlagworte:	anoctamin 10 (ANO10) Ataxia autosomal recessive cerebellar ataxia Case Series Mutation next‐generation sequencing
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!