Expanding the global prevalence of spinocerebellar ataxia type 42-Reference-Cited by-同舟云学术

Expanding the global prevalence of spinocerebellar ataxia type 42

Published:2018-04-05 Issue:3 Volume:4 Page:e232
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Ngo Kathie,Aker Mamdouh,Petty Lauren E.,Chen Jason,Cavalcanti Francesca,Nelson Alexandra B.,Hassin-Baer Sharon,Geschwind Michael D.,Perlman Susan,Italiano Domenico,Laganà Angelina,Cavallaro Sebastiano,Coppola Giovanni,Below Jennifer E.,Fogel Brent L.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference9 articles.

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2. A recurrent mutation in CACNA1G alters cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia;Coutelier;Am J Hum Genet,2015

3. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

4. SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia;Kimura;J Hum Genet,2017

5. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia;Fogel;JAMA Neurol,2014

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