Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia-Reference-Cited by-同舟云学术

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

Published:2020-09-04 Issue: Volume:11 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Altamura Concetta,Ivanova Evgeniya A.,Imbrici Paola,Conte Elena,Camerino Giulia Maria,Dadali Elena L.,Polyakov Alexander V.,Kurbatov Sergei Aleksandrovich,Girolamo Francesco,Carratù Maria Rosaria,Desaphy Jean-François

Funder

Fondazione Telethon

Universita degli Studi di Bari Aldo Moro

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference38 articles.

1. Channelopathies of skeletal muscle excitability;Cannon;Compr Physiol.,2015

2. Skeletal muscle channelopathies;Phillips;Neurotherapeutics.,2018

3. Guidelines on clinical presentation and management of non-dystrophic myotonias;Stunnenberg;Muscle Nerve,2020

4. CLC chloride channels and transporters: structure, function, physiology, and disease;Jentsch;Physiol Rev.,2018

5. Skeletal muscle ClC-1 chloride channels in health and diseases;Altamura;Pflugers Arch,2020

Cited by 7 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. Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia;Journal of Atherosclerosis and Thrombosis;2024-09-01

2. ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations;Biomedicines;2023-09-24

3. Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report;Human Gene;2022-12

4. Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita;Frontiers in Pharmacology;2022-08-11

5. Becker congenital myotonia in black African with molecular findings;Egyptian Journal of Medical Human Genetics;2022-04-13