CHRNE compound heterozygous mutations in congenital myasthenic syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

CHRNE compound heterozygous mutations in congenital myasthenic syndrome

Published:2018-04 Issue:17 Volume:97 Page:e0347
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Yang Kunfang,Cheng Hongyi,Yuan Fang,Meng Linyi,Yin Rongrong,Zhang Yuanfeng,Wang Simei,Wang Chunmei,Lu Yanfen,Xi Jiaming,Lu Qin,Chen Yucai

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference23 articles.

1. Congenital myasthenic syndromes;Joseph;J Clin Neurosci,2009

2. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers;Rinz;Neuromuscul Disord,2015

3. The binding of acetylcholine to receptors and its removal from the synaptic cleft;Katz;J Physiol,1973

4. A frameshift mutation in CHRNE unmasks skipping of the preceding exon;Ohno;Hum Mol Genet,2003

5. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients;Abicht;Hum Mutat,2012

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. Structural switch in acetylcholine receptors in developing muscle;Nature;2024-07-31

2. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes;Nature Communications;2024-02-28

3. Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up;Biomedicines;2023-11-06

4. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes;2023-01-20

5. Evidence for assisted reproductive technology associated epigenetic variation in humans;Sex, Gender, and Epigenetics;2023

同舟云学术

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