Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Author:

Pyle Angela1,Ramesh Venkateswaran2,Bartsakoulia Marina1,Boczonadi Veronika1,Gomez-Duran Aurora1,Herczegfalvi Agnes3,Blakely Emma L.4,Smertenko Tania1,Duff Jennifer1,Eglon Gail1,Moore David1,Yu Wai Man Patrick1,Douroudis Konstantinos1,Santibanez-Koref Mauro5,Griffin Helen1,Lochmüller Hanns5,Karcagi Veronika6,Taylor Robert W.4,Chinnery Patrick F.1,Horvath Rita1

Affiliation:

1. Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

2. Department of Pediatric Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Trust, UK

3. Department of Pediatrics, Semmelweis University, Budapest, Hungary

4. Wellcome Trust Mitochondrial Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK

5. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

6. Department of Molecular Genetics and Diagnostics, NIEH, Budapest, Hungary

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

Cited by 20 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

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