Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Published:2008-08-21 Issue:23 Volume:17 Page:3822-3835
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Hakonen A. H.,Goffart S.,Marjavaara S.,Paetau A.,Cooper H.,Mattila K.,Lampinen M.,Sajantila A.,Lonnqvist T.,Spelbrink J. N.,Suomalainen A.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/17/23/3822/1816427/ddn280.pdf

Reference45 articles.

1. Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease

2. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

3. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features

4. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

5. Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

Cited by 121 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. Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis;Movement Disorders Clinical Practice;2024-06-28

2. Antiretroviral therapy and its cerebral vascular toxicity;HIV-Associated Neurocognitive Disorders;2024

3. Metabolic Determinants of Cerebellar Circuit Formation and Maintenance;The Cerebellum;2023-12-20

4. Role of Antioxidant Vitamins and Minerals from Herbal Source in the Management of Lifestyle Diseases;Role of Herbal Medicines;2023

5. The Finnish genetic heritage in 2022 – from diagnosis to translational research;Disease Models & Mechanisms;2022-10-01

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