A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference26 articles.
1. A functionally dominant mitochondrial DNA mutation;Sacconi;Hum Mol Genet,2008
2. Mitochondrial DNA mutations in human disease;DiMauro;Am J Med Genet,2001
3. Prediction of pathogenic mutations in mitochondrially encoded human tRNAs;Kondrashov;Hum Mol Genet,2005
4. Assigning pathogenicity to mitochondrial tRNA mutations: when “definitely maybe” is not good enough;McFarland;Trends Genet,2004
5. Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells;McDonnell;Eur J Hum Genet,2004
Cited by 11 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. Progressive external ophthalmoplegia;Mitochondrial Diseases;2023
2. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy;Neuromuscular Disorders;2019-09
3. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant;Neuromuscular Disorders;2018-04
4. A national perspective on prenatal testing for mitochondrial disease;European Journal of Human Genetics;2014-03-19
5. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders;Genetics in Medicine;2013-05
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