GNE Myopathy - Determination of disease prevalence and investigations into the importance of sialic acid in muscle differentiation
GNE Myopathy - Determination of disease prevalence and investigations into the importance of sialic acid in muscle differentiation
GNE 肌病 - 确定疾病患病率并研究唾液酸在肌肉分化中的重要性
批准号：
476323
负责人：
Derksen Alexa R
金额：
$7.65万
依托单位国家：
加拿大
项目类别：
Studentship Programs
财政年份：
2022
资助国家：
加拿大
项目状态：
未结题
起止时间：
2022-11-01 至 2025-11-01
中文摘要
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英文摘要
GNE myopathy is a rare inherited neuromuscular disorder which presents in early adulthood with progressive leg weakness leading to loss of ambulation and severe disability. The disease is estimated to affect between 1 and 9 in 1,000,000 individuals, howev
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LSM7: a novel genetic variant in ultra-rare cases of leukodystrophy
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批准号：406311
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项目类别：Studentship Programs
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资助金额：$1.27万
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财政年份：2018
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负责人：Derksen Alexa R
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依托单位：
海外基金
