Core B Clinical Core

摘要 本建议书是为核心支持本拨款申请项目的指示 致力于阐明早发性脑梗死的分子病因学和病理生理学 肌张力障碍，并继续扩大这一临床核心作为一个国际 肌张力障碍相关调查的资源。集中的核心服务对于 每个具体项目的稳定性和运作， 协调和有效地实现项目的总体目标。这个的功能 核心包括患者确定、招募、入组和表型 表征;人体组织采集，细胞系/ DNA /成纤维细胞，用于诱导 多能干细胞系（iPS）建立和基因型分析（项目1）;以及 数据库维护和扩展。核心提供样本和临床 项目1和项目2的信息。此外，为了确保这些资源最 随时提供给全国各地的同事，我们将继续贡献样本， 和去识别的临床信息到Coriell的NINDS存储库。

ABSTRACT This proposal is for core support for the projects of this grant application directed towards elucidation of the molecular etiology and pathophysiology of early onset dystonia and for the continued expansion of this clinical core as an international resource for dystonia-related investigations. Centralized core services are critical to the stability and functioning of each of the specific projects and indispensable to the coordinated and efficient attainment of the overall project goals. The functions of this core include patient ascertainment, recruitment, enrollment and phenotypic characterization; human tissue collection, cell line / DNA / fibroblast for induced pluripotent stem cell line (iPS) establishment and genotype analysis (in Project 1); and database maintenance and expansion. The core provides samples and clinical information to Projects 1 and 2. Furthermore, to ensure that these resources are most readily available to colleagues across the nation, we will continue to contribute samples and de-identified clinical information to the NINDS Repository at Coriell.