A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression-Reference-Cited by-同舟云学术

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression

Published:2014-04 Issue:5 Volume:57 Page:207-211
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bürk Katrin,Kaiser Frank J.,Tennstedt Stephanie,Schöls Ludger,Kreuz Friedmar R.,Wieland Thomas,Strom Tim M.,Büttner Thomas,Hollstein Ronja,Braunholz Diana,Plaschke Jens,Gillessen-Kaesbach Gabriele,Zühlke Christine

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference24 articles.

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3. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation;Barros;JAMA Neurol,2013

4. Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation;Blumkin;J Child Neurol,2010

5. Structure and function of voltage-gated ion channels;Catterall;Annu Rev Biochem,1995

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