Detalhe da pesquisa
1.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Brain
; 146(5): 1859-1872, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36370000
2.
Association of Rare Variants in ARSA with Parkinson's Disease.
Mov Disord
; 38(10): 1806-1812, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381728
3.
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.
Brain
; 144(2): 462-472, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349842
4.
Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Mov Disord
; 36(1): 178-187, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970363
5.
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Mov Disord
; 36(7): 1664-1675, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33598982
6.
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
Mov Disord
; 36(1): 235-240, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001463
7.
Autosomal Dominant Parkinson's Disease Caused by SNCA p.E46K Mutation in a Family with Russian Ancestry.
Mov Disord
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38661277
8.
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Res Sq
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562709
9.
Association of rare variants in ARSA with Parkinson's disease.
medRxiv
; 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993451
10.
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
bioRxiv
; 2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38014143
11.
HLA in isolated REM sleep behavior disorder and Lewy body dementia.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778313
12.
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.
Neurobiol Aging
; 127: 94-98, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37032242
13.
HLA in isolated REM sleep behavior disorder and Lewy body dementia.
Ann Clin Transl Neurol
; 10(9): 1682-1687, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37401389
14.
Dopamine pathway and Parkinson's risk variants are associated with levodopa-induced dyskinesia.
medRxiv
; 2023 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790572
15.
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.
Neurobiol Aging
; 119: 136-138, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305379
16.
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Nat Commun
; 13(1): 7496, 2022 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470867
17.
Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.
J Parkinsons Dis
; 12(1): 333-340, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34690151
18.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Neurobiol Aging
; 103: 142.e1-142.e5, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781610
19.
Fine mapping of the HLA locus in Parkinson's disease in Europeans.
NPJ Parkinsons Dis
; 7(1): 84, 2021 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548497
20.
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Neurobiol Aging
; 100: 119.e7-119.e13, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239198