Main menu

Potential diagnostic efficacy of Cas9-mediated long-read sequencing in NOTCH2NLC-associated neuronal intranuclear inclusion disease


Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder characterized by eosinophilic intranuclear inclusions in neuronal and glial cells. The wide range of clinical manifestation in NIID makes the diagnosis difficult. It can be suspected by a characteristic MRI feature which is on the hyperintensity along the corticomedullary junction on diffusion-weighted imaging (zigzag edging sign). Recent studies have demonstrated that NIDD is caused by a GGC repeat expansion of the NOTCH2NLC gene and accounts for a substantial portion of undiagnosed adult-onset leukoencephalopathies.

Download the PDF

入门指南

购买 MinION 启动包 Nanopore 商城 测序服务提供商 全球代理商

纳米孔技术

订阅 Nanopore 更新 资源库及发表刊物 什么是 Nanopore 社区

关于 Oxford Nanopore

新闻 公司历程 可持续发展 领导团队 媒体资源和联系方式 投资者 合作者 在 Oxford Nanopore 工作 职位空缺 商业信息 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Chinese flag