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Clinical, molecular and pathophysiological characterization of Pol III-related leukodystrophies

Clinical, molecular and pathophysiological characterization of Pol III-related leukodystrophies
Pol III 相关脑白质营养不良的临床、分子和病理生理学特征
批准号：
267420
负责人：
Bernard Geneviève
金额：
$33.07万
依托单位：
Research Institute of the McGill University Health Centre
依托单位国家：
加拿大
项目类别：
Operating Grants
财政年份：
2012
资助国家：
加拿大
项目状态：
已结题
起止时间：
2012-09-01 至 2015-09-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=267420&lang=en
关键词：
Clinical Characterization Exome Sequencing Hypomyelination Magnetic Resonance Imaging Mouse Model Pathophysiological Mechanisms Pol Iii-Related Leukodystrophies Polymerase Iii Rna Expression Array

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中文摘要
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英文摘要
Leukodystrophies are a group of degenerative diseases characterized by involvement of the white matter (myelin) of the brain. They are divided into demyelinating (i.e. myelin destruction) and hypomyelinating (i.e. lack of myelin formation) based on their
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RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models
RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models
Unraveling the molecular basis of novel forms of hypomyelinating leukodystrophies
Canadian Leukodystrophy Conference for Patients and Families: Current and Novel therapies
国内基金
海外基金
全外显子组测序（Whole-Exome Sequencing，WES）检测NSCLC中难治性OCT4+循环肿瘤细胞的基因突变
  • 批准号：
    81773273
  • 项目类别：
    面上项目
  • 资助金额：
    50.0万元
  • 批准年份：
    2017
  • 负责人：
    李榕
  • 依托单位：
    上海交通大学