Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

Published:2008-07 Issue:7 Volume:18 Page:557-560
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Blakely Emma,He Langping,Gardner Julie L.,Hudson Gavin,Walter John,Hughes Imelda,Turnbull Douglass M.,Taylor Robert W.

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Inherited mitochondrial DNA depletion;Elpeleg;Pediatr Res,2003

2. Recessive twinkle mutations in early onset encephalopathy with mtDNA depletion;Hakonen;Brain,2007

3. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy;Saada;Nat Genet,2001

4. Mitochondrial DNA depletion: mutation in thymidine kinase gene with myopathy and SMA;Mancuso;Neurology,2002

5. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene;Oskoui;Arch Neurol,2006

Cited by 41 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. Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes;Journal of Biosciences;2024-02-19

2. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study;Neuromuscular Disorders;2022-09

3. Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants;Mitochondrion;2022-07

4. Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing;Mitochondrion;2019-11

5. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy;Annals of Neurology;2019-06-17

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