LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Published:2005-01-12 Issue:5 Volume:13 Page:623-627
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Blakely Emma L,de Silva Rajith,King Andrew,Schwarzer Verena,Harrower Tim,Dawidek Gervase,Turnbull Douglass M,Taylor Robert W

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201363.pdf

Reference19 articles.

1. DiMauro S, Schon EA : Mitochondrial respiratory-chain diseases. N Engl J Med 2003; 348: 2656–2668.

2. McFarland R, Taylor RW, Turnbull DM : The neurology of mitochondrial DNA disease. Lancet Neurol 2002; 1: 345–351.

3. Goto Y, Nonaka I, Horai S : A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651–653.

4. Santorelli FM, Tanji K, Kulikova R et al: Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 1997; 238: 326–328.

5. Corona P, Antozzi C, Carrara F et al: A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 2001; 49: 106–110.

Cited by 81 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. Maternal age enhances purifying selection on pathogenic mutations in complex I genes of mammalian mtDNA;Nature Aging;2024-07-29

2. Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management;Progress in Retinal and Eye Research;2024-07

3. Hereditary Optic Neuropathies: An Updated Review;Journal of Clinical & Translational Ophthalmology;2024-06-26

4. A systematic review on the biochemical threshold of mitochondrial genetic variants;Genome Research;2024-04-16

5. Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure;Journal of Neuro-Ophthalmology;2023-07-21

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