Pathway-driven discovery of epilepsy genes
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/nn.3933.pdf
Reference96 articles.
1. Shoffner, J.M. et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61, 931–937 (1990).
2. Berg, A.T. et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 51, 676–685 (2010).
3. MacArthur, D.G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469–476 (2014).
4. Petrovski, S. et al. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 9, e1003709 (2013).
5. Knecht, C. & Krawczak, M. Molecular genetic epidemiology of human diseases: from patterns to predictions. Hum. Genet. 133, 425–430 (2014).
Cited by 144 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. Quantitative serum proteome analysis using tandem mass tags in dogs with epilepsy;Journal of Proteomics;2024-01
2. Gd-MOF composites luminescent arrays for highly sensitive detection of epileptic drug and biomarkers;Chemical Engineering Journal;2024-01
3. Linking epileptic phenotypes and neural extracellular matrix remodeling signatures in mouse models of epilepsy;Neurobiology of Disease;2023-11
4. Autologous olfactory mucosa mesenchymal stem cells treatment improves the neural network in chronic refractory epilepsy;Stem Cell Research & Therapy;2023-09-07
5. Liquid–liquid phase separation in synaptopathies;Neuroprotection;2023-06-19
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