• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Classifying Hypomyelination: A Critical (White) Matter.髓鞘形成不足的分类：关键（白质）问题
Child Neurol Open. 2020 Dec 24;7:2329048X20983761. doi: 10.1177/2329048X20983761. eCollection 2020 Jan-Dec.
2
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.儿童脑白质营养不良的临床、病理、诊断和治疗观点的最新进展。
Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12.
3
Solving the hypomyelination conundrum - Imaging perspectives.解决少突胶质细胞发育不良之谜——影像学视角。
Eur J Paediatr Neurol. 2020 Jul;27:9-24. doi: 10.1016/j.ejpn.2020.04.007. Epub 2020 Apr 22.
4
4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.4H型脑白质营养不良：一种脑磁共振成像评分系统。
Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1.
5
Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy.骨髓基质细胞移植治疗脑白质营养不良后神经影像学模式下脑白质改变的改善。
JAMA Neurol. 2013 Jun;70(6):779-82. doi: 10.1001/jamaneurol.2013.629.
6
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.26 例脑白质营养不良伴发育不良婴儿的遗传异质性。
Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23.
7
Advanced MRI analysis to detect white matter brain injury in growth restricted newborn lambs.高级 MRI 分析检测生长受限新生羔羊的脑白质损伤。
Neuroimage Clin. 2019;24:101991. doi: 10.1016/j.nicl.2019.101991. Epub 2019 Aug 23.
8
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.POLR3B 相关性脑白质营养不良：4 名患者的临床、神经影像学和分子遗传学分析：POLR3B 基因的临床异质性和新突变。
Neurol Neurochir Pol. 2019;53(5):369-376. doi: 10.5603/PJNNS.a2019.0042. Epub 2019 Oct 2.
9
The spectrum of adult-onset heritable white-matter disorders.成人起病的遗传性白质疾病谱。
Handb Clin Neurol. 2018;148:669-692. doi: 10.1016/B978-0-444-64076-5.00043-0.
10
Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.伴有EIF2B3基因新突变的儿童共济失调伴中枢神经系统髓鞘形成低下病例
J Pediatr Neurosci. 2017 Apr-Jun;12(2):196-198. doi: 10.4103/jpn.JPN_183_16.

本文引用的文献

1
Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies.扩展的表型定义识别出数百种脑白质营养不良和脑白质病的潜在致病基因。
Child Neurol Open. 2020 Jul 8;7:2329048X20939003. doi: 10.1177/2329048X20939003. eCollection 2020 Jan-Dec.
2
Solving the hypomyelination conundrum - Imaging perspectives.解决少突胶质细胞发育不良之谜——影像学视角。
Eur J Paediatr Neurol. 2020 Jul;27:9-24. doi: 10.1016/j.ejpn.2020.04.007. Epub 2020 Apr 22.
3
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.脑白质营养不良：一种基于病理变化和发病机制的分类系统提议
Acta Neuropathol. 2017 Sep;134(3):351-382. doi: 10.1007/s00401-017-1739-1. Epub 2017 Jun 21.
4
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.热休克蛋白HSP70的核转运蛋白希克什缺失会导致婴儿期低髓鞘性白质脑病。
Eur J Hum Genet. 2017 Feb;25(3):366-370. doi: 10.1038/ejhg.2016.189. Epub 2016 Dec 21.
5
Hypomyelinating disorders: An MRI approach.髓鞘形成障碍：MRI 检查方法
Neurobiol Dis. 2016 Mar;87:50-8. doi: 10.1016/j.nbd.2015.10.015. Epub 2015 Oct 22.
6
Case definition and classification of leukodystrophies and leukoencephalopathies.脑白质营养不良和脑白质病的病例定义与分类
Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29.
7
PRKDC mutations in a SCID patient with profound neurological abnormalities.PRKDC 基因突变导致一名严重神经发育异常的 SCID 患者。
J Clin Invest. 2013 Jul;123(7):2969-80. doi: 10.1172/JCI67349. Epub 2013 Jun 3.
8
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.AIMP1/p43 纯合突变导致的类似于 Pelizaeus-Merzbacher 病。
Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18.
9
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.脱髓鞘疾病中的磁共振成像模式识别
Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257.
10
Invited article: an MRI-based approach to the diagnosis of white matter disorders.特邀文章：基于磁共振成像的白质疾病诊断方法
Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.

Classifying Hypomyelination: A Critical (White) Matter.

作者信息

Perrier Stefanie, Matovic Sara, Bernard Geneviève

机构信息

Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.

Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.

出版信息

Child Neurol Open. 2020 Dec 24;7:2329048X20983761. doi: 10.1177/2329048X20983761. eCollection 2020 Jan-Dec.

DOI:10.1177/2329048X20983761
PMID:33490304
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7768829/
Abstract
摘要