Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

Published:2015 Issue: Volume: Page:115-120
ISSN:2192-8304
Container-title:JIMD Reports
language:
Short-container-title:

Author:

Ardissone Anna,Granata Tiziana,Legati Andrea,Diodato Daria,Melchionda Laura,Lamantea Eleonora,Garavaglia Barbara,Ghezzi Daniele,Moroni Isabella

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_419

Reference16 articles.

1. Atwal PS (2013) Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome. JIMD Rep 25:43–45

2. Balasubramaniam et al. (2012) Human Genetics Society of Australasia Meeting 2012

3. Budde SM, van den Heuvel LP, Smeets RJ et al (2003) Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. J Inherit Metab Dis 200326(8):813–815

4. Campos Y, Martín MA, Rubio JC, Gutiérrez del Olmo MC, Cabello A, Arenas J (2013) Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Neurogenetics 14(1):85–87

5. De Lonlay P, Valnot I, Barrientos A et al (2001) A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29(1):57–60

Cited by 17 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. Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update;Journal of Inherited Metabolic Disease;2024-07-25

2. Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts;Rare;2024

3. Limitations of Multigene Next-Generation Sequencing Panel for “Cerebral Palsy” Phenotype and Other Complex Movement Disorders;Pediatric Neurology;2023-12

4. A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review;CNS Neuroscience & Therapeutics;2023-11-06

5. Ubiquinol-cytochrome c reductase core protein 1 contributes to cardiac tolerance to acute exhaustive exercise;Experimental Biology and Medicine;2021-10-14

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