SURF1-associated leigh syndrome: A case series and novel mutations
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference49 articles.
1. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency;Böhm;Pediatr Res,2006
2. Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model;Baden;J Biol Chem,2007
3. Diagnostic criteria for respiratory chain disorders in adults and children;Bernier;Neurology,2002
4. A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency;Bruno;J Child Neurol,2002
5. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency;Coenen;Biochem Biophys Res Commun,1999
Cited by 43 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. Biallelic variants inCOX18cause a mitochondrial disorder primarily manifesting as peripheral neuropathy;2024-07-04
2. A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies;Brain and Development;2023-12
3. Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia;International Journal of Molecular Sciences;2023-01-13
4. Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study;Pediatric Neurology;2022-11
5. A yeast suppressor screen links Coa4 to the mitochondrial copper delivery pathway for cytochrome c oxidase;Genetics;2022-06-06
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