A website for the inherited neuropathies
A website for the inherited neuropathies
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
关键词:
AddressAffectAgeAmazeCharcot-Marie-Tooth DiseaseClassificationClinicalDatabasesDiagnosisDiseaseElectronic MailElectrophysiology (science)EpidemiologyEponymsGenesGeneticGenetic screening methodGoalsGrantHealth ProfessionalInheritedInternetLifeLinkMutationNeuronsNeuropathyPatientsPublishingResearch PersonnelSchwann CellsSeriesServicesSorting - Cell MovementSyndromeUnited KingdomUpdateessayshereditary neuropathyinterestweb site
中文摘要
Charcot-Marie-Tooth病(CMT)是所有不属于综合征的遗传性神经疾病的代名词。CMT是一种相对常见的疾病,影响约1:2500人(Skre,1974),但CMT的遗传原因日益多样化,迄今已发现30多个基因。CMT1、CMT2和CMT4共同构成了CMT病例的大多数,并且是本次拨款的重点。主要影响髓鞘雪旺细胞的突变导致脱髓鞘形式的CMT;主要影响神经元的突变导致“轴突”形式的CMT。进展的速度确实令人惊叹,但这在人们所知的和大多数卫生保健专业人员对CMT的了解之间创造了一个空白。为了解决这个问题,我将开发和维护一个包含以下功能的网站:
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:
期刊论文(0)
专著(0)
科研奖励(0)
会议论文
Autoimmune Mechanisms in Peripheral Neuropathy
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批准号:10239173
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项目类别:
-
资助金额:$49.67万
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财政年份:2018
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负责人:STEVEN Simon Scherer
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依托单位:
Autoimmune Mechanisms in Peripheral Neuropathy
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批准号:9792291
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项目类别:
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资助金额:$50.77万
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财政年份:2018
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负责人:STEVEN Simon Scherer
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依托单位:
How do dominant PMP2 mutations cause demyelinating neuropathy?
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批准号:9437210
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项目类别:
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资助金额:$20.13万
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财政年份:2017
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负责人:STEVEN Simon Scherer
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依托单位:
How do dominant PMP2 mutations cause demyelinating neuropathy?
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批准号:9572452
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项目类别:
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资助金额:$24.15万
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财政年份:2017
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负责人:STEVEN Simon Scherer
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依托单位:
The Role of Connexin32 in the Pathogensis of CMTX
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批准号:8337714
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项目类别:
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资助金额:$35.0万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The Role of Connexin32 in the Pathogensis of CMTX
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批准号:8186867
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项目类别:
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资助金额:$35.0万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The Role of Connexin32 in the Pathogensis of CMTX
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批准号:8732705
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项目类别:
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资助金额:$34.65万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The role of connexin32 in the pathogenesis of CMTX
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批准号:7213822
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项目类别:
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资助金额:$30.84万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The role of connexin32 in the pathogenesis of CMTX
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批准号:7342822
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项目类别:
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资助金额:$28.41万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The role of connexin32 in the pathogenesis of CMTX
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批准号:7730833
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项目类别:
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资助金额:$28.22万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The Role of Connexin32 in the Pathogensis of CMTX
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批准号:8534290
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项目类别:
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资助金额:$33.78万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
The role of connexin32 in the pathogenesis of CMTX
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批准号:7537167
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项目类别:
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资助金额:$27.68万
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财政年份:2007
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal Injury in Demyelinating Disease
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批准号:6457608
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项目类别:
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资助金额:$33.88万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal Injury in Demyelinating Disease
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批准号:6725327
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项目类别:
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资助金额:$33.88万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal Injury in Demyelinating Disease
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批准号:6872944
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项目类别:
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资助金额:$33.88万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal alterations in demyelinating diseases
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批准号:7342820
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项目类别:
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资助金额:$34.45万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal Injury in Demyelinating Disease
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批准号:6622836
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项目类别:
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资助金额:$33.88万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal alterations in demyelinating diseases
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批准号:8013782
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项目类别:
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资助金额:$33.76万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal alterations in demyelinating diseases
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批准号:7212934
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项目类别:
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资助金额:$34.39万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
Axonal alterations in demyelinating diseases
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批准号:7539187
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项目类别:
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资助金额:$34.45万
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财政年份:2002
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负责人:STEVEN Simon Scherer
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依托单位:
海外基金