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Investigating the role of mutated UFM1 in a recessive late-onset cerebellar ataxia (LOCA) that often evolves into a multiple system atrophy of cerebellar subtype (MSA-C)

Investigating the role of mutated UFM1 in a recessive late-onset cerebellar ataxia (LOCA) that often evolves into a multiple system atrophy of cerebellar subtype (MSA-C)
研究突变 UFM1 在隐性迟发性小脑共济失调 (LOCA) 中的作用，该病通常演变成小脑多系统萎缩亚型 (MSA-C)
批准号：
172390
负责人：
Brais Bernard
金额：
$23.6万
依托单位：
Centre hospitalier de l'Universit de Montral (CHUM)
依托单位国家：
加拿大
项目类别：
Operating Grants
财政年份：
2008
资助国家：
加拿大
项目状态：
已结题
起止时间：
2008-09-01 至 2011-09-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=172390&lang=en
关键词：
Ataxia Cerebellum Gene Multiple System Atrophy Neurodegeneration Positional Cloning

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中文摘要
翻译
迟发性共济失调在很大程度上被认为是显性共济失调的较轻形式或散发疾病，似乎不是由遗传因素引起的。它们的患病率尚不清楚，但它们是老年人活动能力下降的原因
英文摘要
Late-onset ataxias have largely been considered as either milder forms of dominant ataxias or sporadic diseases seemingly not caused by genetic factors. Their prevalence is unknown, but together they are poorly recognized cause of decreased mobility in ag
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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
  • 批准号：
    478132
  • 项目类别：
    Operating Grants
  • 资助金额：
    $26.75万
  • 财政年份：
    2023
  • 负责人：
    Brais Bernard
  • 依托单位：
    McGill University
Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias
  • 批准号：
    430840
  • 项目类别：
    Operating Grants
  • 资助金额：
    $16.39万
  • 财政年份：
    2020
  • 负责人：
    Brais Bernard
  • 依托单位：
    McGill University
PROSPAX: an integrated multimodal progression chart in spastic ataxias
  • 批准号：
    406801
  • 项目类别：
    Operating Grants
  • 资助金额：
    $16.35万
  • 财政年份：
    2019
  • 负责人：
    Brais Bernard
  • 依托单位：
    McGill University
PREPARE: Preparing for therapies in autosomal recessive ataxias
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