Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Published:2017-08-18 Issue:10 Volume:140 Page:2550-2556
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Dorboz Imen,Aiello Chiara,Simons Cas,Stone Robert Thompson,Niceta Marcello,Elmaleh Monique,Abuawad Mohammad,Doummar Diane,Bruselles Alessandro,Wolf Nicole I,Travaglini Lorena,Boespflug-Tanguy Odile,Tartaglia Marco,Vanderver Adeline,Rodriguez Diana,Bertini Enrico

Funder

European Leukodystrophy Association

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/140/10/2550/23003044/awx207.pdf

Reference31 articles.

1. Cloning and analysis of Nkx6.3 during CNS and gastrointestinal development;Gene Expr Patterns,2006

2. Evidence that the homeodomain protein Gtx is involved in the regulation of oligodendrocyte myelination;J Neurosci,1997

3. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy;Am J Hum Genet,2011

4. Oligodendrocytes: biology and pathology;Acta Neuropathol,2010

5. Mice lacking the Nkx6.2 (Gtx) homeodomain transcription factor develop and reproduce normally;Mol Cell Biol,2001

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. Overview of Neuro-Ophthalmic Findings in Leukodystrophies;Journal of Clinical Medicine;2024-08-28

2. Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report;Children;2023-07-21

3. NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy;Brain Disorders;2023-03

4. Contact-Dependent Granzyme B-Mediated Cytotoxicity of Th17-Polarized Cells Toward Human Oligodendrocytes;Frontiers in Immunology;2022-04-11

5. Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause;Brain Disorders;2021-06

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