Detalhe da pesquisa
1.
Role of GBA variants in Lewy body disease neuropathology.
Acta Neuropathol;
147(1): 54, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38472443
2.
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Int J Mol Sci;
23(13)2022 Jun 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35806091
3.
Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.
Clin Auton Res;
31(1): 117-125, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33502644
4.
Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy.
Neurol Neurochir Pol;
54(4): 350-355, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32687595
5.
PTPA variants are rare in early-onset and familial Parkinson's disease.
Brain;
146(12): e125-e127, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37448355
6.
Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease.
Mov Disord;
36(12): 2971-2973, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34586679
7.
miRNA family miR-29 inhibits PINK1-PRKN dependent mitophagy via ATG9A.
bioRxiv;
2024 Jan 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38293184
8.
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Lancet Neurol;
23(5): 487-499, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38631765
9.
Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies.
Acta Neuropathol Commun;
11(1): 109, 2023 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37415197
10.
Case report of a patient with unclassified tauopathy with molecular and neuropathological features of both progressive supranuclear palsy and corticobasal degeneration.
Acta Neuropathol Commun;
11(1): 88, 2023 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37264457
11.
CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus.
Neurol Genet;
9(5): e200086, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37476022
12.
Genome-wide association study identifies APOE and ZMIZ1 variants as mitophagy modifiers in Lewy body disease.
medRxiv;
2023 Oct 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37905059
13.
Creating the Pick's disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick's disease.
medRxiv;
2023 Apr 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37163045
14.
PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson's disease in Ireland.
Ir J Med Sci;
191(2): 901-907, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33751372
15.
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Cells;
11(15)2022 08 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35954270
16.
Mitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures.
Acta Neuropathol Commun;
10(1): 103, 2022 07 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35836284
17.
Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.
JAMA Neurol;
79(2): 185-193, 2022 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34982113
18.
Investigating ELOVL7 coding variants in multiple system atrophy.
Neurosci Lett;
749: 135723, 2021 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33600908
19.
Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease.
Parkinsonism Relat Disord;
83: 22-30, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33454605
20.
Association of Mitochondrial DNA Genomic Variation With Risk of Pick Disease.
Neurology;
96(13): e1755-e1760, 2021 03 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33568542