A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy

Published:2014-02 Issue:2 Volume:24 Page:162-166
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jeppesen Tina Dysgaard,Duno Morten,Risom Lotte,Wibrand Flemming,Rafiq Jabin,Krag Thomas,Jakobsen Johannes,Andersen Henning,Vissing John

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. MITOMAP: a human mitochondrial genome database. 2008. .

2. Mitochondrial disease;Schapira;Lancet,2006

3. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation;Finsterer;Acta Neurol Scand,2007

4. Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?;Muñoz-Málaga;Muscle Nerve,2000

5. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders;Sternnberg;Brain,2001

Cited by 13 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. Compact zinc finger base editors that edit mitochondrial or nuclear DNA in vitro and in vivo;Nature Communications;2022-11-23

2. Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease;PLOS ONE;2020-09-24

3. Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease;2020-05-13

4. CPEO – Like mitochondrial myopathy associated with m.8340G>A mutation;Mitochondrion;2019-05

5. Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies;Neuromuscular Disorders;2018-02

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