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Leukodystrophy: A Translational Research Program

Leukodystrophy: A Translational Research Program
脑白质营养不良：转化研究计划
批准号：
340639
负责人：
Bernard Geneviève
金额：
$21.86万
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：
Salary Programs
财政年份：
2015
资助国家：
加拿大
项目状态：
已结题
起止时间：
2015-12-01 至 2020-12-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=340639&lang=en
关键词：
Clinical Characterization Genetic Characterization Hypomyelinating Leukodystrophies Leukodystrophies Mri Characterization Pathophysiological Characterization Polr3-Related (4h) Leukodystrophy

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中文摘要
翻译
白质营养不良症是一组罕见的遗传性疾病，影响以前健康的儿童，并导致数月至数年的进行性残疾和死亡。不幸的是，目前尚无有效的治疗方法。估计有30-50%的患者
英文摘要
Leukodystrophies are a group of rare genetic diseases affecting previously healthy children and leading to progressive disabilities and death over months to years. Unfortunately, no curative treatment is available. It is estimated that 30-50% of patients
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会议论文
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
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