A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics
Author:
Funder
Shanghai Municipal Population and Family Planning Commission
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/article/10.1007/s00415-017-8628-3/fulltext.html
Reference29 articles.
1. Mitchell JD, Borasio GD (2007) Amyotrophic lateral sclerosis. Lancet 369(9578):2031–2041. doi: 10.1016/S0140-6736(07)60944-1
2. Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP et al (1993) Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261(5124):1047–1051
3. Corcia P, Couratier P, Blasco H, Andres CR, Beltran S, Meininger V, Vourc’h P (2017) Genetics of amyotrophic lateral sclerosis. Revue neurologique 173(5):254–262. doi: 10.1016/j.neurol.2017.03.030
4. Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75(5):822–831. doi: 10.1086/425287
5. Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH Jr (2008) New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. Neurology 70(14):1179–1185. doi: 10.1212/01.wnl.0000289760.85237.4e
Cited by 10 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. Endoplasmic Reticulum Membrane Contact Sites, Lipid Transport, and Neurodegeneration;Cold Spring Harbor Perspectives in Biology;2022-09-19
2. Autophagy Dysfunction in ALS: from Transport to Protein Degradation;Journal of Molecular Neuroscience;2022-06-16
3. VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease;Frontiers in Cell and Developmental Biology;2022-06-08
4. The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis;Cells;2021-07-23
5. Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration;Neural Regeneration Research;2021
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