Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in theFLVCR1gene
Author:
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
http://www.tandfonline.com/doi/pdf/10.3109/00207454.2014.904858
Reference15 articles.
1. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32
2. Autosomal recessive posterior column ataxia and retinitis pigmentosa
3. An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa
4. Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa
5. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1
Cited by 25 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. Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus;Cell Reports Medicine;2024-07
2. Molecular mechanism of choline and ethanolamine transport in humans;Nature;2024-05-22
3. Unearthing FLVCR1a: tracing the path to a vital cellular transporter;Cellular and Molecular Life Sciences;2024-04-06
4. Biallelic variation in the choline and ethanolamine transporterFLVCR1underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders;2024-02-13
5. Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases;Genome Medicine;2023-12-14
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