Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
Author:
Funder
Shahid Beheshti University of Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-019-09633-1.pdf
Reference115 articles.
1. Noreau A, Dion PA, Rouleau GA (2014) Molecular aspects of hereditary spastic paraplegia. Exp Cell Res 325(1):18–26
2. Boutry M, Morais S, Stevanin G (2019) Update on the genetics of spastic paraplegias. Curr Neurol Neurosci Rep 19(4):18
3. Tesson C, Koht J, Stevanin G (2015) Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet 134(6):511–538
4. Schlang KJ, Arning L, Epplen JT, Stemmler S (2008) Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet 9(1):71
5. D’Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G et al (2018) Next generation molecular diagnosis of Hereditary Spastic Paraplegias: an Italian cross-sectional study. Front Neurol. 9:981
Cited by 62 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. Supranuclear Vertical Gaze Palsy in Movement Disorders;Neuro-Ophthalmology;2024-07-17
2. ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family;Frontiers in Neurology;2024-07-01
3. Identification and analyses of exonic and copy number variants in spastic paraplegia;Scientific Reports;2024-06-21
4. Amyotrophic lateral sclerosis; clinical features, differential diagnosis and pathology;International Review of Neurobiology;2024
5. A Novel SPAST Variant Associated with Isolated Spastic Paraplegia;Case Reports in Genetics;2023-12-31
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