Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease
Author:
Funder
Ministry of Health, Labor, and Welfare
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference33 articles.
1. A new leukoencephalopathy with vanishing white matter;van der Knaap;Neurology,1997
2. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy;Hanefeld;Neuropediatrics,1993
3. Childhood ataxia with diffuse central nervous system hypomyelination;Schiffmann;Ann Neurol,1994
4. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter;Leegwater;Nat Genet,2001
5. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter;van der Knaap;Ann Neurol,2002
Cited by 8 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. eIF2B Activator Rescues Neonatal Lethality of an eIF2Bα Sugar Phosphate Binding Mutation Associated with Vanishing White Matter Disease;2023-05-08
2. Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients;Neurological Sciences;2022-04-07
3. Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies;International Journal of Molecular Sciences;2021-12-27
4. A (dis)integrated stress response: Genetic diseases of eIF2α regulators;WIREs RNA;2021-08-31
5. Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia;BMC Neurology;2019-08-22
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