Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference29 articles.
1. Spinal muscular atrophies;Zerres,2006
2. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA);Wirth;Hum. Mutat.,2000
3. Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset;Barth;Brain Dev.,1993
4. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy;Rudnik-Schoneborn;Am. J. Med. Genet. A.,2003
5. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia;Edvardson;Am. J. Hum. Genet.,2007
Cited by 154 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. Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy;Journal of Molecular Medicine;2024-03-30
2. Neonatal Neuromuscular Disorders;Avery's Diseases of the Newborn;2024
3. A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C;Journal of Human Genetics;2023-11-29
4. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy;International Journal of Molecular Sciences;2023-11-16
5. The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation;Journal of Biological Chemistry;2023-09
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