Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

Published:2012-11-30 Issue:4 Volume:260 Page:1071-1080
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Tschampa Henriette J.,Urbach Horst,Greschus Susanne,Kunz Wolfram S.,Kornblum Cornelia

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-012-6763-4.pdf

Reference32 articles.

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

2. Pavlakis SG, Phillips PC, DiMauro S, De V, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:481–488

3. Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP (1992) Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord 2:125–135

4. Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De V, DiMauro S (2009) Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A 149A:584–587

5. Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE (1995) The mitochondrial DNA transfer RNALeu(UUR) A → G(3243) mutation. A clinical and genetic study. Brain 118:721–734

Cited by 36 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. Recurrent mitochondrial disease caused by the "m.3243A> G″ mutation: A case report;Asian Journal of Surgery;2024-06

2. Clinical and radiological description of 120 pediatric stroke‐like episodes;European Journal of Neurology;2023-05-10

3. A rare heteroplasmic point mutation in the MT-ND5 gene (m.13094T>C; p.Val253Ala) found in a patient with adult onset MELAS syndrome: a case report;2023-03-13

4. Stroke-like episodes in adult mitochondrial disease;Mitochondrial Diseases;2023

5. Mitochondrial encephalomyopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

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