The role of de novo mutations in adult-onset neurodegenerative disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine
Link
http://link.springer.com/article/10.1007/s00401-018-1939-3/fulltext.html
Reference188 articles.
1. Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA et al (2015) Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet 97:67–74. https://doi.org/10.1016/j.ajhg.2015.05.008
2. Acuna-Hidalgo R, Sengul H, Steehouwer M, van de Vorst M, Vermeulen SH, Kiemeney L et al (2017) Ultra-sensitive sequencing identifies high prevalence of clonal hematopoiesis-associated mutations throughout adult life. Am J Hum Genet 101:50–64. https://doi.org/10.1016/j.ajhg.2017.05.013
3. Acuna-Hidalgo R, Veltman JA, Hoischen A (2016) New insights into the generation and role of de novo mutations in health and disease. Genome Biol 17:241. https://doi.org/10.1186/s13059-016-1110-1
4. Agarwal S, Potocki L, Collier TR, Woodbury SL, Adesina AM, Jones J et al (2016) Utility of whole exome sequencing in evaluation of juvenile motor neuron disease. Muscle Nerve 53:648–652. https://doi.org/10.1002/mus.25030
5. Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O et al (2014) Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study. Lancet Neurol 13:1108–1113. https://doi.org/10.1016/S1474-4422(14)70219-4
Cited by 39 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. TRGT-denovo: accurate detection ofde novotandem repeat mutations;2024-07-19
2. Automated Identification of Germlinede novoMutations in Family Trios: A Consensus-Based Informatic Approach;2024-03-13
3. Impaired electrical activity of the brain explains the onset of dementia in aging people;The FASEB Journal;2023-10-12
4. Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report;Frontiers in Genetics;2023-08-25
5. Spinocerebellar ataxia type 11 (SCA11): An update;European Journal of Neuroscience;2023-06-16
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