Multigeneration family with dominant SPG30 hereditary spastic paraplegia
Author:
Affiliation:
1. Department of Neurology; Neuromuscular Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland
2. Neurogenetics Branch; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Bethesda Maryland
Funder
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Reference16 articles.
1. Kinesin superfamily proteins (KIFs): various functions and their relevance for important phenomena in life and diseases;Hirokawa;Exp Cell Res,2015
2. Motor protein KIF1A is essential for synaptogenesis and learning enhancement in an enriched environment;Kondo;Neuron,2012
3. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy;Lee;Hum Mutat,2015
4. De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance;Ohba;J Hum Genet,2015
5. KIF1A mutation in a patient with progressive neurodegeneration;Okamoto;J Hum Genet,2014
Cited by 14 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. Cryo-EM Unveils the Processivity Mechanism of Kinesin KIF1A and the Impact of its Pathogenic Variant P305L;2023-02-03
2. KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease;Pharmaceuticals;2023-01-19
3. A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle;The EMBO Journal;2022-02-08
4. Single-Molecule Studies on the Motion and Force Generation of the Kinesin-3 Motor KIF1A;Optical Tweezers;2022
5. Hereditary Myelopathy: A Clinical Approach;Myelopathy;2022
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