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Characterization of the newly uncovered internationally prevalent GAA triplet expansion late-onset SCA27B ataxia that is more common in Quebec: from improved phenotyping, genotyping to molecular pathological understanding

Characterization of the newly uncovered internationally prevalent GAA triplet expansion late-onset SCA27B ataxia that is more common in Quebec: from improved phenotyping, genotyping to molecular pathological understanding
新发现的国际流行的 GAA 三联体扩增迟发性 SCA27B 共济失调（在魁北克省更为常见）的特征：从改进的表型、基因分型到分子病理学理解
批准号：
478132
负责人：
Brais Bernard
金额：
$26.75万
依托单位：
McGill University
依托单位国家：
加拿大
项目类别：
Operating Grants
财政年份：
2023
资助国家：
加拿大
项目状态：
未结题
起止时间：
2023-03-01 至 2026-03-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=478132&lang=en
关键词：
Aging Ataxia Cerebellum Chanelopathy Gait Neurodegeneration

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When gait becomes ataxic in aging it has a major negative impact on quality of life and risk of falls. Decreased balance after the age of 30 caused by cerebellar disease is rare, with 1:33,000 people affected. The late-onset cerebellar ataxias (LOCA) as a
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Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias
  • 批准号：
    430840
  • 项目类别：
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  • 资助金额：
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  • 财政年份：
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  • 财政年份：
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  • 负责人：
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