Detalhe da pesquisa
1.
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
J Integr Neurosci
; 23(1): 16, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287861
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.
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Brain
; 145(12): 4398-4408, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903017
4.
Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity.
Int J Mol Sci
; 24(15)2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569538
5.
Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant ß-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.
Int J Mol Sci
; 24(10)2023 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240451
6.
ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease.
BMC Cardiovasc Disord
; 21(1): 566, 2021 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837967
7.
FABP4 and omentin-1 gene expression in epicardial adipose tissue from coronary artery disease patients.
Genet Mol Biol
; 44(4): e20200441, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609443
8.
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
9.
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Mov Disord
; 33(8): 1325-1330, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30192031
10.
Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations?
Mov Disord
; 37(8): 1779-1781, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792565
11.
Increased α-Synuclein Level in CD45+ Blood Cells in Asymptomatic Carriers of GBA Mutations.
Mov Disord
; 36(8): 1997-1998, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34409693
12.
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Mov Disord
; 30(7): 989-91, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25962734
13.
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
14.
Fraction of plasma exomeres and low-density lipoprotein cholesterol as a predictor of fatal outcome of COVID-19.
PLoS One
; 18(2): e0278083, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758022
15.
Downregulation of Exosomal hsa-miR-551b-3p in Obesity and Its Link to Type 2 Diabetes Mellitus.
Noncoding RNA
; 9(6)2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987363
16.
Cryo-electron microscopy of adipose tissue extracellular vesicles in obesity and type 2 diabetes mellitus.
PLoS One
; 18(2): e0279652, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36827314
17.
Association of rare variants in ARSA with Parkinson's disease.
medRxiv
; 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993451
18.
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
J Pers Med
; 13(10)2023 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37888103
19.
Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.
Metabolites
; 14(1)2023 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248833
20.
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