CACNA1S mutation associated with a case of juvenile-onset congenital myopathy-Reference-Cited by-同舟云学术

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CACNA1S mutation associated with a case of juvenile-onset congenital myopathy

Published:2021-12 Issue: Volume:431 Page:120047
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Mauri Eleonora,Piga Daniela,Pagliarani Serena,Magri Francesca,Manini Arianna,Sciacco Monica,Ripolone Michela,Napoli Laura,Borellini Linda,Cinnante Claudia,Cassandrini Denise,Corti Stefania,Bresolin Nereo,Comi Giacomo Pietro,Govoni Alessandra

Funder

Ministero della Salute

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference11 articles.

1. Congenital muscular dystrophies and myopathies: an overview and update;Schorling;Neuropediatrics,2017

2. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus;Ravenscroft;Brain,2015

3. The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits;Jurkat-Rott;J. Physiol.,2004

4. Structure of the voltage-gated calcium channel Cav1.1 complex;Wu;Science,2015

5. A calcium channel mutation causing hypokalemic periodic paralysis;Jurkat-Rott;Hum. Mol. Genet.,1994

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature;Genes;2023-06-28

2. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies;Journal of General Physiology;2022-08-18

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