More autosomal dominant SPG18 cases than recessive? The first AD‐SPG18 pedigree in Chinese and literature review
Author:
Affiliation:
1. Department of Neurology Zhengzhou University People's Hospital (Henan Provincial People's Hospital) Zhengzhou China
2. Department of Neurology Henan University People's Hospital Zhengzhou China
Publisher
Wiley
Subject
Behavioral Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.2395
Reference19 articles.
1. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
2. Loss ofERLIN2function leads to juvenile primary lateral sclerosis
3. Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS
4. Update on the Genetics of Spastic Paraplegias
5. Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER
Cited by 3 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. Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18;Neurological Sciences;2023-12-30
2. A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family;Annals of Clinical and Translational Neurology;2023-09-27
3. A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing;International Journal of Neuroscience;2023-09-15
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