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.
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
4.
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
5.
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
6.
Tossing and Turning in Bed: Nocturnal Movements in Parkinson's Disease.
Mov Disord
; 35(6): 959-968, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080891
7.
Network abnormalities among non-manifesting Parkinson disease related LRRK2 mutation carriers.
Hum Brain Mapp
; 40(8): 2546-2555, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30793410
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.
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
11.
Cerebral Imaging Markers of GBA and LRRK2 Related Parkinson's Disease and Their First-Degree Unaffected Relatives.
Brain Topogr
; 31(6): 1029-1036, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29846835
12.
Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Am J Hum Genet
; 94(3): 462-9, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530202
13.
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
14.
Estimation of genetic risk function with covariates in the presence of missing genotypes.
Stat Med
; 36(22): 3533-3546, 2017 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28656686
15.
Two Ethnic Clusters with Huntington Disease in Israel: The Case of Mountain Jews and Karaites.
Neurodegener Dis
; 17(6): 281-285, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848105
16.
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
17.
Intact working memory in non-manifesting LRRK2 carriers--an fMRI study.
Eur J Neurosci
; 43(1): 106-12, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26536050
18.
Down-regulation of B cell-related genes in peripheral blood leukocytes of Parkinson's disease patients with and without GBA mutations.
Mol Genet Metab
; 117(2): 179-85, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26410072
19.
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Mol Genet Metab
; 117(1): 38-41, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26653794
20.
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