Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/130/6/1516/17862335/awm067.pdf
Reference34 articles.
1. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation;Auré;Brain,2006
2. Ophthalmoplegia-plus, a real nosological entity;Bastiaensen;Acta Neurol Scand,1978
3. Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayre syndrome?;Berenberg;Ann Neurol,1977
4. Identical mitochondrial DNA deletion in mother with progressive external ophtalmoplegia and son with Pearson marrow-pancreas syndrome;Bernes;J Pediatrics,1993
5. Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study;Brockington;J Neurol Sci,1995
Cited by 57 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. Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study;European Journal of Endocrinology;2023-10-10
2. Progressive external ophthalmoplegia;Mitochondrial Diseases;2023
3. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines;European Journal of Human Genetics;2022-12-13
4. Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies;Neuromuscular Disorders;2022-12
5. A case of chronic progressive external ophthalmoplegia presenting with central neurogenic hyperventilation;Brain Disorders;2022-12
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