Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations
Author:
Publisher
S. Karger AG
Subject
Neurology (clinical),Neurology
Reference5 articles.
1. Blanz J, Schweizer M, Auberson M, et al: Leukoencephalopathy upon disruption of the chloride channel ClC-2. J Neurosci 2007; 27: 6581–6589.
2. Depienne C, Bugiani M, Dupuits C, et al: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol 2013; 12: 659–668.
3. Bösl MR, Stein V, Hübner C, et al: Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. EMBO J 2001; 20: 1289–1299.
4. Di Bella D, Pareyson D, Savoiardo M, et al: Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation. Neurology 2014; 83: 1217–1218.
5. Siskind C, Feely SM, Bernes S, et al: Persistent CNS dysfunction in a boy with CMT1X. J Neurol Sci 2009; 279: 109–113.
Cited by 16 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. CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging (MRI) over 17 years: a case report;2024-06-17
2. CLCN2-related leukoencephalopathy;Radiopaedia.org;2024-02-04
3. Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy;Frontiers in Genetics;2023-11-09
4. Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia;Brain Communications;2023-10-17
5. Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function;Human Genetics;2023-03-25
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