Hereditary spastic paraplegias: an update
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference47 articles.
1. CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS
2. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
3. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
4. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners
5. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
Cited by 165 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. Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia;GENES DIS;2024
2. RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation;The American Journal of Human Genetics;2023-12
3. A Single-Sensor Approach to Quantify Gait in Patients with Hereditary Spastic Paraplegia;Sensors;2023-07-20
4. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study;Neurología (English Edition);2023-07
5. Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment;neurogenetics;2022-04-09
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