Targeted Next Generation Sequencing in patients with Myotonia Congenita
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference44 articles.
1. Muscle pathology of myotonia congenital;Crews;J. Neurol. Sci.,1976
2. Myotonia Congenita. GeneReviews [Internet]. 2005 [Updated 2015 Aug 6];Dunø,1993
3. The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins;Gentzsch;J. Biol. Chem.,2003
4. CLC chloride channels in Caenorhabditis elegans;Schriever;J. Biol. Chem.,1999
5. A decade of CLC chloride channels: structure, mechanism, and many unsettled questions;Maduke;Annu. Rev. Biophys. Biomol. Struct.,2000
Cited by 9 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. Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study;Experimental Neurology;2023-04
2. Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report;Human Gene;2022-12
3. Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis;Frontiers in Neurology;2022-08-23
4. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study;Journal of Neurology;2022-07-30
5. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy;Cells;2021-06-16
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3