The Many Clinical Faces of Cytochrome c Oxidase Deficiency
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-3573-0_14.pdf
Reference83 articles.
1. Andreu AL, Hanna MG, Reichmann H et al (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341:1037–1044
2. Antonicka H, Leary SC, Guercin G-H et al (2003a) Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet 12:2693–2702
3. Antonicka H, Mattman A, Carlson CG et al (2003b) Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72:101–114
4. Bardosi A, Creutzfeldt W, DiMauro S et al (1987) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74:248–258
5. Betts J, Jaros E, Perry RH et al (2006) Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 32:359–373
Cited by 56 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. Restoration of defective oxidative phosphorylation to a subset of neurons prevents mitochondrial encephalopathy;EMBO Molecular Medicine;2024-08-21
2. Differences between long- and short-wavelength light–induced retinal damage and the role of PARP-1 in retinal injury induced by blue light;Experimental Eye Research;2024-07
3. Mitochondrial DNA: Inherent Complexities Relevant to Genetic Analyses;Genes;2024-05-12
4. Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study;Annals of Medicine & Surgery;2024-04-29
5. Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine;Neurotherapeutics;2024-01
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