Core B Clinical Core

摘要 这项提案是对本赠款申请项目的核心支持。 早期发病的分子病因学和病理生理学研究进展 肌张力障碍和继续扩大这一临床核心作为国际 肌张力障碍相关调查的资源。集中化核心服务对于 每个具体项目的稳定性和运作情况，对 协调高效地完成项目总体目标。它的功能是 核心包括患者确定、招募、招募和表型 特性；人体组织收集，细胞系/DNA/成纤维细胞用于诱导 多能干细胞系的建立和基因分析(在项目1中)； 数据库维护和扩容。核心提供样本和临床 提供给项目1和2的信息。此外，为了确保这些资源是最 我们将继续为全国各地的同仁提供样品 并将不确定的临床信息提交给位于科里尔的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.