A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement
Author:
Publisher
Societas Neurologica Japonica
Subject
Clinical Neurology
Reference17 articles.
1. 1) Wilmshurst JM, Ouvrier R. Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul Disord 2011;21:763-775.
2. 2) Takashima H. Genetic diagnosis and molecular pathology of inherited neuropathy. Rinsho Shinkeigaku 2012;52:399-404.
3. 3) Zhao Z, Hashiguchi A, Hu J, et al. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology 2012;78:1644-1649.
4. 4) Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-1299.
5. 5) Guo M, Schimmel P. Essential nontranslational functions of tRNA synthetases. Nat Chem Biol 2013;9:145-153.
Cited by 10 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. Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models;Frontiers in Neuroscience;2023-05-12
2. Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes;Human Mutation;2022-04-21
3. tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase;Science;2021-09-03
4. Aminoacyl‐tRNA synthetases in Charcot–Marie–Tooth disease: A gain or a loss?;Journal of Neurochemistry;2020-12-19
5. Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy;Nature Communications;2018-03-08
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