Testing for somatic mutation in Sporadic Amyotrophic Lateral Sclerosis

散发性肌萎缩侧索硬化症的体细胞突变检测

• 批准号: 301926
• 负责人: Leblond Claire S
• 金额: --
• 依托单位: McGill University
• 依托单位国家: 加拿大
• 项目类别: Fellowship Programs
• 财政年份: 2013
• 资助国家: 加拿大
• 起止时间: 2013-11-01 至 2016-05-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=301926&lang=en
• 关键词: Amyotrophic Lateral Sclerosis; Single Molecule Molecular Inverted Probe; Somatic Mutation; Spinal Cord; Targeted Deep Sequencing; Whole Exome Sequencing

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease characterized by degeneration of motor neurons in the motor cortex, brainstem and spinal cord that control muscle movement. The majority of ALS cases occur sporadically (SALS), with

肌萎缩侧索硬化症（ALS）是一种破坏性的神经系统疾病，其特征是控制肌肉运动的运动皮层、脑干和脊髓中的运动神经元变性。大多数ALS病例偶发发生（SALS），