Clinical and Neuropathological Features Associated With Loss of RAB39B,Movement Disorders

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Clinical and Neuropathological Features Associated With Loss of RAB39B
Movement Disorders ( IF 8.6 ) Pub Date : 2020-01-17 , DOI: 10.1002/mds.27951
Yujing Gao _{1,

2} , Verónica Martínez-Cerdeño _{3,

4} , Kirk J Hogan _{5,

6} , Catriona A McLean ₇ , Paul J Lockhart _{1,

2}

Affiliation

Pathogenic variants in the small GTPase Ras Analogue in Brain 39b (RAB39B) have been linked to the development of early‐onset parkinsonism. The study was aimed at delineating the clinical and neuropathological features associated with a previously reported pathogenic variant in RAB39B (c.503C>A p.T168K) and testing for dysregulation of RAB39B in idiopathic PD.

中文翻译：

与 RAB39B 缺失相关的临床和神经病理学特征

大脑中的小 GTPase Ras 类似物 39b (RAB39B) 的致病性变异与早发性帕金森症的发展有关。该研究旨在描述与先前报道的 RAB39B 致病性变异（c.503C>A p.T168K）相关的临床和神经病理学特征，并测试特发性 PD 中 RAB39B 的失调。

更新日期：2020-01-17

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