De novo and inherited private variants in MAP1B in periventricular nodular heterotopia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Published:2018-05-08 Issue:5 Volume:14 Page:e1007281
ISSN:1553-7404
Container-title:PLOS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Heinzen Erin L.^ORCID,O'Neill Adam C.,Zhu Xiaolin^ORCID,Allen Andrew S.,Bahlo Melanie,Chelly Jamel,Chen Ming Hui,Dobyns William B.,Freytag Saskia,Guerrini Renzo,Leventer Richard J.,Poduri Annapurna^ORCID,Robertson Stephen P.^ORCID,Walsh Christopher A.,Zhang Mengqi, ,

Funder

National Institute of Neurological Disorders and Stroke

National Institute of Neurological Disorders and Stroke (US)

Curekids NZ and the Health Research Council of NZ

European Union through the Seventh Framework Programme

Boston Children's Hospital Translational Research Program

Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC IRIIS

NHMRC Program Grant

Howard Hughes Medical Institute

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference73 articles.

1. A structural basis for reading fluency: white matter defects in a genetic brain malformation;BS Chang;Neurology,2007

2. A developmental and genetic classification for malformations of cortical development: update 2012;AJ Barkovich;Brain,2012

3. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia;JW Fox;Neuron,1998

4. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex;VL Sheen;Nat Genet,2004

5. Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human;M Kielar;Nat Neurosci,2014

Cited by 43 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. Neuronal Hyperactivity in Neurons Derived from Individuals with Grey Matter Heterotopia;2024-07-10

2. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase;The American Journal of Human Genetics;2024-04

3. RELN gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report;Frontiers in Neurology;2024-03-27

4. Teaching NeuroImage: New Pattern of Periventricular Nodular Heterotopia in Twins With a Pathogenic Variant in the MAP1B Gene;Neurology;2023-09-26

5. Clinical and Molecular Overview of Cortical Malformations;Neocortical Neurogenesis in Development and Evolution;2023-08-08

同舟云学术

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