Novel CLCN1 mutations with unique clinical and electrophysiological consequences
Author:
Publisher
Oxford University Press (OUP)
Subject
Neurology (clinical)
Link
http://academic.oup.com/brain/article-pdf/125/11/2392/718420/awf246.pdf
Cited by 73 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. ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations;Biomedicines;2023-09-24
2. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study;Journal of Neurology;2022-07-30
3. Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients;Frontiers in Pediatrics;2021-11-01
4. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients;Neuromuscular Disorders;2021-04
5. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita;Journal of Molecular Neuroscience;2021-01-19
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