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Natural history study of x-linked Dystonia Parkinsonism

Natural history study of x-linked Dystonia Parkinsonism
X连锁肌张力障碍帕金森病的自然史研究
批准号:
10181089
负责人:
NUTAN SHARMA
金额:
$21.0万
依托单位国家:
美国
项目类别:
财政年份:
2020
资助国家:
美国
项目状态:
已结题
起止时间:
2020-06-15 至 2022-11-30

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中文摘要
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英文摘要
Project Summary X-linked dystonia Parkinsonism (XDP) is a neurodegenerative disease that affects men whose mothers originate from the island of Panay, Philippines. Due to the relatively isolated region in which those with XDP live, and the rarity of the disease itself, limited data regarding the natural history is currently available. The goal of this application is to solidify an already established collaboration for a natural history study and the collection of DNA and other biological fluids. Natural history studies are important for understanding the etiology, range of manifestations and progression of a rare disease. Biospecimens are crucial to understand the underlying pathology at both the molecular and cellular level. In addition, investigators in the Philippines will undergo training in clinical research methodology in the United States. The training will improve their ability to conduct independent research on XDP in the Philippines.
期刊论文(1)
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会议论文
Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism.
X连锁肌张力障碍帕金森症患者声音和声音相关生活质量逐渐下降。
DOI: 10.1016/j.jvoice.2020.11.014
发表时间: 2023
期刊: Journal of voice : official journal of the Voice Foundation
影响因子: --
作者: [Song,SungjinA, Go,CriscelyL, Acuna,PatrickB, DeGuzman,JanKristopherPalentinos, Sharma,Nutan, Song,PhillipC]
通讯作者: Song,PhillipC
Genetic Variants in Craniofacial Dystonias
  • 批准号:
    10364887
  • 项目类别:
  • 资助金额:
    $61.88万
  • 财政年份:
    2022
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
Genetic Variants in Craniofacial Dystonias
  • 批准号:
    10686185
  • 项目类别:
  • 资助金额:
    $60.18万
  • 财政年份:
    2022
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
Natural history study of x-linked Dystonia Parkinsonism
  • 批准号:
    10053483
  • 项目类别:
  • 资助金额:
    $21.0万
  • 财政年份:
    2020
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
FOCAL DYSTONIA: GENOTYPE-PHENOTYPE CORRELATION
  • 批准号:
    7731292
  • 项目类别:
  • 资助金额:
    $0.15万
  • 财政年份:
    2008
  • 负责人:
    NUTAN SHARMA
  • 依托单位:
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