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.
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
4.
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
5.
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
6.
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
7.
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
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.
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
11.
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
12.
Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson's Disease.
Genes (Basel)
; 12(10)2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680941
13.
Postural instability and neuropsychiatric disturbance in the overlapping phenotype of essential tremor and Parkinson's Disease.
Neurophysiol Clin
; 50(6): 489-494, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873435
14.
Cryo-electron microscopy of extracellular vesicles from cerebrospinal fluid.
PLoS One
; 15(1): e0227949, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999742
15.
Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.
J Pers Med
; 9(3)2019 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31426520
16.
A low blood copper concentration is a co-morbidity burden factor in Parkinson's disease development.
Neurosci Res
; 135: 54-62, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203265
17.
Mutation analysis of Parkinson's disease genes in a Russian data set.
Neurobiol Aging
; 71: 267.e7-267.e10, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146349