The Nuclear Envelope: An Intriguing Focal Point for Neurogenetic Disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
http://link.springer.com/content/pdf/10.1007/s13311-014-0296-8.pdf
Reference119 articles.
1. Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-327.
2. Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-259.
3. Manilal S, Nguyen TM, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996;5:801-808.
4. Dauer WT, Worman HJ. The nuclear envelope as a signaling node in development and disease. Dev Cell 2009;17:626-638.
5. Schirmer EC, Florens L, Guan T, Yates JR, Gerace L. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science 2003;301:1380-1382.
Cited by 17 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. Dystonia genes and their biological pathways;International Review of Neurobiology;2023
2. Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions;Annals of Neurology;2022-11-18
3. Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene;Stem Cell Research;2021-10
4. Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review;BMC Musculoskeletal Disorders;2020-09-01
5. Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission;Brain Communications;2020
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