| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8841558 | Neuroscience Letters | 2018 | 18 Pages |
Abstract
The p.L216I mutation is a novel GBA mutation, which we identified in two Han Chinese patients with PD. The patients exhibited similar characteristics, which differed from those seen in patients with other GBA mutations. Future work is needed to investigate this mutation further, as well as larger cohort studies to explore other GBA mutations associated with PD in the Han Chinese and in other populations.
Keywords
GBAH-YHRSDMoCApolymorphism phenotyping v2UPDRSMMSERBDSIFTExACl-3,4-dihydroxyphenylalaninel-DOPAParkinson’s diseaseSorting Intolerant From TolerantMini-Mental State ExaminationHamilton Anxiety ScaleUnified Parkinson’s Disease Rating ScaleHamilton Depression Rating ScaleHan ChineseHAMAHoehn and YahrPolyPhen-2Glucocerebrosidase gene
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Authors
Hong Jin, Jing Chen, Kai Li, Jin-ru Zhang, Chen-chen Gu, Cheng-jie Mao, Ya-ping Yang, Feng Wang, Chun-feng Liu,