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A website for the inherited neuropathies

A website for the inherited neuropathies
遗传性神经病网站
批准号:
7942663
负责人:
STEVEN Simon Scherer
金额:
$16.35万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
2009
资助国家:
美国
项目状态:
已结题
起止时间:
2009-09-30 至 2014-08-31

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中文摘要
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英文摘要
Charcot-Marie-Tooth disease (CMT) is the eponym for all inherited neuropathies that are not part of a syndrome. CMT is a relatively common disease, affecting ~1:2500 people (Skre, 1974), but the genetic causes of CMT are increasingly diverse, with more than 30 genes identified to date. CMT1, CMT2, and CMT4 collectively constitute the majority of CMT cases, and are the focus of this grant. Mutations that primarily affect myelinating Schwann cells cause demyelinating forms of CMT; mutations that primarily affect neurons cause the "axonal" forms of CMT. The pace of progress is truly amazing, but this has created a void between what is known and what most health care professionals know about CMT. To address this problem, I will develop and maintain a website that incorporates the following features:
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Autoimmune Mechanisms in Peripheral Neuropathy
Autoimmune Mechanisms in Peripheral Neuropathy
How do dominant PMP2 mutations cause demyelinating neuropathy?
  • 批准号:
    9437210
  • 项目类别:
  • 资助金额:
    $20.13万
  • 财政年份:
    2017
  • 负责人:
    STEVEN Simon Scherer
  • 依托单位:
How do dominant PMP2 mutations cause demyelinating neuropathy?
  • 批准号:
    9572452
  • 项目类别:
  • 资助金额:
    $24.15万
  • 财政年份:
    2017
  • 负责人:
    STEVEN Simon Scherer
  • 依托单位:
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