Emerging and converging molecular mechanisms in dystonia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Biological Psychiatry,Psychiatry and Mental health,Clinical Neurology,Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00702-020-02290-z.pdf
Reference157 articles.
1. Abela L, Kurian MA (2018) Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms. J Inherit Metab Dis 41(6):1077–1091. https://doi.org/10.1007/s10545-018-0205-0
2. Acuna C, Liu X, Gonzalez A, Sudhof TC (2015) RIM-BPs mediate tight coupling of action potentials to Ca(2+)-triggered neurotransmitter release. Neuron 87(6):1234–1247. https://doi.org/10.1016/j.neuron.2015.08.027
3. Adams BM, Oster ME, Hebert DN (2019) Protein quality control in the endoplasmic reticulum. Protein J 38(3):317–329. https://doi.org/10.1007/s10930-019-09831-w
4. Aguilo F, Zakirova Z, Nolan K, Wagner R, Sharma R, Hogan M, Wei C, Sun Y, Walsh MJ, Kelley K, Zhang W, Ozelius LJ, Gonzalez-Alegre P, Zwaka TP, Ehrlich ME (2017) THAP1: role in mouse embryonic stem cell survival and differentiation. Stem Cell Rep 9(1):92–107. https://doi.org/10.1016/j.stemcr.2017.04.032
5. Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thony B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M (2017) Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am J Hum Genet 100(2):257–266. https://doi.org/10.1016/j.ajhg.2017.01.002
Cited by 32 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. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation;Annals of Clinical and Translational Neurology;2024-04-22
2. A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity?;Movement Disorders;2024-02-28
3. Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report;Clinical Parkinsonism & Related Disorders;2024
4. Piecing together a complex puzzle: 5 key challenges in basic dystonia research;Dystonia;2023-12-21
5. Function and dysfunction of the dystonia network: an exploration of neural circuits that underlie the acquired and isolated dystonias;Dystonia;2023-12-13
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