Detalhe da pesquisa
1.
Validity of the Short Weekly Calendar Planning Activity in patients with Parkinson disease and nonmanifesting LRRK2 and GBA carriers.
Eur J Neurol
; : e16327, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743695
2.
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk.
Mol Genet Metab
; 139(2): 107608, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37201419
3.
The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol.
BMC Neurol
; 23(1): 151, 2023 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37069531
4.
Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.
Mov Disord
; 37(1): 190-195, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550621
5.
The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44.
Mol Genet Metab
; 133(1): 109-112, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33762134
6.
A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease.
Mov Disord
; 35(7): 1249-1253, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32353202
7.
Corrigendum: The histone H2B-specific ubiquitin ligase RNF20/hBRE1 acts as a putative tumor suppressor through selective regulation of gene expression.
Genes Dev
; 31(18): 1926, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29051390
8.
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
Mol Genet Metab
; 128(4): 470-475, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31662221
9.
Distinguishing Dementia With Lewy Bodies From Alzheimer Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?
Alzheimer Dis Assoc Disord
; 33(3): 279-281, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640255
10.
Requirement of ATM-dependent monoubiquitylation of histone H2B for timely repair of DNA double-strand breaks.
Mol Cell
; 41(5): 529-42, 2011 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21362549
11.
Survival rates among Parkinson's disease patients who carry mutations in the LRRK2 and GBA genes.
Mov Disord
; 33(10): 1656-1660, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288804
12.
Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.
Mov Disord
; 33(6): 966-973, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603409
13.
Correction: The natural history study of preclinical genetic Creutzfeldt-Jakob Disease (CJD): a prospective longitudinal study protocol.
BMC Neurol
; 23(1): 229, 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37312066
14.
Glucocerebrosidase Activity Is Not Associated with Parkinson's Disease Risk or Severity.
Mov Disord
; 37(3): 651-652, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064687
15.
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Hum Mol Genet
; 23(17): 4693-702, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842889
16.
Arm swing as a potential new prodromal marker of Parkinson's disease.
Mov Disord
; 31(10): 1527-1534, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27430880
17.
Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.
Mov Disord
; 30(7): 981-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809001
18.
Mild cognitive impairment among LRRK2 and GBA1 patients with Parkinson's disease.
Parkinsonism Relat Disord
; 123: 106970, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691978
19.
Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
Mov Disord
; 28(14): 1966-71, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243757
20.
Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers.
Parkinsonism Relat Disord
; 111: 105398, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37116292