当前位置: X-MOL 学术Mov. Disord. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1
Movement Disorders ( IF 8.6 ) Pub Date : 2021-08-20 , DOI: 10.1002/mds.28756
Sarah A O'Shea 1, 2 , Richard A Hickman 3 , Etty Cortes 3, 4 , Jean Paul Vonsattel 3 , Stanley Fahn 2 , Volkan Okur 5, 6 , Roy N Alcalay 2 , Wendy K Chung 5
Affiliation  

PLXNA1 encodes for Plexin-A, a transmembrane protein expressed in the developing nervous system. Mutations in this gene have been associated with developmental delay but have not been previously associated with the development of parkinsonism.

中文翻译:

与 PLXNA1 单等位基因变异相关的帕金森病和发育迟缓病例的神经病理学发现

PLXNA1编码 Plexin-A,一种在发育中的神经系统中表达的跨膜蛋白。该基因的突变与发育迟缓有关,但以前与帕金森病的发展无关。
更新日期:2021-08-20
down
wechat
bug