Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference23 articles.
1. A case of megalencephalic leukoencephalopathy with subcortical cysts in an Iranian consanguineous family;Ashrafi;Iran J Pediatr,2009
2. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients;Ben-Zeev;J Child Neurol,2001
3. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1;Ilja Boor;Hum Mut,2006
4. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts;Bugiani;Neuropediatrics,2003
5. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation;Gorospe;Neurology,2004
Cited by 17 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. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature;Frontiers in Genetics;2024-02-29
2. The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst A Case Report;IRAN J CHILD NEUROL;2023
3. Megalenzephale Leukenzephalopathie mit subkortikalen Zysten;Diagnostic Imaging: Pädiatrische Neuroradiologie;2023
4. Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts;Journal of Child Neurology;2022-03-24
5. Astrocyte–Oligodendrocyte–Microglia Crosstalk in Astrocytopathies;Frontiers in Cellular Neuroscience;2020-11-19
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