课题基金 / 基金详情

Studies Of Hereditary Neurological Disease: Disease Gene Identification

Studies Of Hereditary Neurological Disease: Disease Gene Identification
遗传性神经疾病的研究：疾病基因鉴定
批准号：
7969580
负责人：
Kenneth Fischbeck
金额：
$98.86万
依托单位：
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/7969580
关键词：
AfricaAutoimmune ProcessBiologyCandidate Disease GeneCharcot-Marie-Tooth DiseaseChromosomes, Human, Pair 19DiseaseEvaluationFamilyGenesGeneticGoalsHereditary Spastic ParaplegiaInheritedLafora DiseaseMaliMapsMutationMyasthenia GravisNeurodegenerative DisordersPatientsResearchSingle Nucleotide Polymorphism MapSpinocerebellar Ataxiasbaseeffective therapynervous system disorderneuromuscularnoveloutreach programprograms

项目摘要

项目成果

Kenneth Fischbeck的其他基金

相关文献

中文摘要
翻译
这项研究计划的目的是调查遗传性神经疾病的原因，目的是为这些疾病开发有效的治疗方法。遗传外展计划允许识别和描述患有遗传性神经疾病的患者和家庭的特征。过去一年的具体研究成果包括评估Lafora躯体疾病和脊髓小脑性共济失调20型的新突变，以及家族性自身免疫性重症肌无力(Enox)、2C型夏科-玛丽-图思病(TRPV4)的候选基因，以及定位于19号染色体的一种新形式的遗传性痉挛截瘫。
英文摘要
The purpose of this research program is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. A genetic outreach program allows the identification and characterization of patients and families with hereditary neurological diseases. Specific research accomplishments in the past year include the evaluation of novel mutations for lafora body disease and spinocerebellar ataxia type 20, and candidate genes for familial autoimmune myasthenia gravis (ENOX), Charcot-Marie-Tooth disease type 2C (TRPV4), and a new form of hereditary spastic paraplegia mapped to chromosome 19.
期刊论文(0)
专著(0)
科研奖励(0)
会议论文
Studies of Hereditary Neurological Disease: Disease Mechanisms
Studies Of Hereditary Neurological Disease: Clinical Trials
Studies Of Hereditary Neurological Disease: Disease Gene Identification
Studies Of Hereditary Neurological Disease: Disease Gene Identification