Detalhe da pesquisa
1.
GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Eur J Neurol
; 31(2): e16145, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37975799
2.
Medication Status and Related Factors in Essential Tremor Patients: A Cross-Sectional Study in China.
Neuroepidemiology
; 57(4): 260-270, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37586340
3.
Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.
J Peripher Nerv Syst
; 28(4): 629-641, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37749855
4.
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
Inglês
| MEDLINE | ID: mdl-31178126
5.
Association of rare PPARGC1A variants with Parkinson's disease risk.
J Hum Genet
; 67(12): 687-690, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35996014
6.
Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1289-1298, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36150844
7.
The Chinese Parkinson's Disease Registry (CPDR): Study Design and Baseline Patient Characteristics.
Mov Disord
; 37(7): 1335-1345, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35503029
8.
PINK1 phosphorylates Drp1S616 to regulate mitophagy-independent mitochondrial dynamics.
EMBO Rep
; 21(8): e48686, 2020 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32484300
9.
Clinical features and reclassification of essential tremor with NOTCH2NLC GGC repeat expansions based on a long-term follow-up.
Eur J Neurol
; 29(12): 3600-3610, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36086903
10.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Brain
; 143(1): 222-233, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31819945
11.
Coding mutations in NUS1 contribute to Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(45): 11567-11572, 2018 11 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30348779
12.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29294000
13.
Association of HIF1A and Parkinson's disease in a Han Chinese population demonstrated by molecular inversion probe analysis.
Neurol Sci
; 40(9): 1927-1931, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31025220
14.
Assessment of GGC Repeat Expansion in GIPC1 in Patients with Parkinson's Disease.
Mov Disord
; 37(7): 1557-1559, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35521937
15.
UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Brain
; 144(6): e54, 2021 07 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33779694
16.
PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Brain
; 144(3): e25, 2021 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33793763
17.
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
Inglês
| MEDLINE | ID: mdl-26954261
18.
[Progress in genetic research on essential tremor].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 767-771, 2017 Oct 10.
Artigo
Chinês
| MEDLINE | ID: mdl-28981951
19.
ATP10B variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Acta Neuropathol
; 141(5): 805-806, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33599816
20.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 757-758, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29351621