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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

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中文摘要
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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.
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Studies Of Hereditary Neurological Disease: Disease Gene Identification
Studies Of Hereditary Neurological Disease: Disease Gene Identification