Detalhe da pesquisa
1.
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Am J Hum Genet
; 105(1): 166-176, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178126
2.
Association of rare PPARGC1A variants with Parkinson's disease risk.
J Hum Genet
; 67(12): 687-690, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996014
3.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Brain
; 143(1): 222-233, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31819945
4.
Coding mutations in NUS1 contribute to Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(45): 11567-11572, 2018 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30348779
5.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294000
6.
UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Brain
; 144(6): e54, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779694
7.
PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Brain
; 144(3): e25, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33793763
8.
Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.
Int J Neurosci
; 127(1): 10-13, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26954261
9.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 757-758, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351621
10.
The contribution of GIGYF2 to Parkinson's disease: a meta-analysis.
Neurol Sci
; 36(11): 2073-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26152800
11.
The BAG2 and BAG5 proteins inhibit the ubiquitination of pathogenic ataxin3-80Q.
Int J Neurosci
; 125(5): 390-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25006867
12.
Analysis of EIF4G1 in ethnic Chinese.
BMC Neurol
; 13: 38, 2013 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23617574
13.
Association study between SNP rs150689919 in the DNA demethylation gene, TET1, and Parkinson's disease in Chinese Han population.
BMC Neurol
; 13: 196, 2013 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24325350
14.
Neuroimaging uncovers distinct relationships of glymphatic dysfunction and motor symptoms in Parkinson's disease.
J Neurol
; 270(5): 2649-2658, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856846
15.
[Roles of axonal transport affected by K141N mutant HSP22 in the pathogenesis of CMT2L].
Zhonghua Yi Xue Za Zhi
; 92(7): 496-8, 2012 Feb 21.
Artigo
em Zh
| MEDLINE | ID: mdl-22490975
16.
PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Neurobiol Aging
; 115: 70-76, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489321
17.
Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.
Neurobiol Aging
; 110: 106-112, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635350
18.
Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
Neurobiol Aging
; 109: 269-272, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34531044
19.
Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.
Neurol Sci
; 32(1): 35-40, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20607337
20.
Constructing Prediction Models for Freezing of Gait by Nomogram and Machine Learning: A Longitudinal Study.
Front Neurol
; 12: 684044, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34938251