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.
Abstract
摘要
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本文引用的文献
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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.
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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.
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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
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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。
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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。
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