Clinical spectrum of mitochondrial DNA mutation at base pair 8344

Author:

Berkovic S.F.,Shoubridge E.A.,Andermann F.,Andermann E.,Carpenter S.,Karpati G.

Publisher

Elsevier BV

Subject

General Medicine

Reference5 articles.

1. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation;Schoffner;Cell,1990

2. Rapid detection of the A→G (8344) mutation of mtDNA in Italian families with myoclonus-epilepsy and ragged red fibres (MERRF);Zeviani;Am J Hum Genet,1991

3. Classification of progressive myoclonus epilepsies and related disorders;Marseille Consensus Group;Ann Neurol,1990

4. Myoclonus epilepsy and ragged-red fibers (MERRF) 1: a clinical, pathological, biochemical, magnetic resonance spectroscopic and positron emission tomographic study;Berkovic;Brain,1989

5. Mitochondrial dysfunction in multiple symmetric lipomatosis;Berkovic;Ann Neurol,1991

Cited by 68 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. Manipulation of mitochondrial genes and mtDNA heteroplasmy;Methods in Cell Biology;2020

2. MitoTALENs for mtDNA editing;The Human Mitochondrial Genome;2020

3. MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis;European Annals of Otorhinolaryngology, Head and Neck Diseases;2019-04

4. Lipomatose cervico-dorsale révélant un syndrome MERRF (myoclonic epilepsy with ragged red fibers);Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale;2019-04

5. Myoclonus Epilepsy with Ragged-Red Fibers (MERRF);Diagnosis and Management of Mitochondrial Disorders;2019

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