Detalhe da pesquisa
1.
Medin co-aggregates with vascular amyloid-ß in Alzheimer's disease.
Nature
; 612(7938): 123-131, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385530
2.
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
J Med Genet
; 61(5): 443-451, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458754
3.
Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.
Mol Psychiatry
; 28(7): 3121-3132, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198259
4.
Mitochondrial haplogroups and cognitive progression in Parkinson's disease.
Brain
; 146(1): 42-49, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36343661
5.
Functional annotation of human long noncoding RNAs via molecular phenotyping.
Genome Res
; 30(7): 1060-1072, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32718982
6.
Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference.
PLoS Pathog
; 17(10): e1010013, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34705895
7.
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.
Acta Neuropathol
; 146(1): 77-95, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149835
8.
An atlas of human long non-coding RNAs with accurate 5' ends.
Nature
; 543(7644): 199-204, 2017 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241135
9.
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.
Neurobiol Dis
; 162: 105578, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871736
10.
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Ann Neurol
; 90(1): 35-42, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33901317
11.
From iPS Cells to Rodents and Nonhuman Primates: Filling Gaps in Modeling Parkinson's Disease.
Mov Disord
; 36(4): 832-841, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200446
12.
Differences in the Presentation and Progression of Parkinson's Disease by Sex.
Mov Disord
; 36(1): 106-117, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33002231
13.
A Multi-omics Data Resource for Frontotemporal Dementia Research.
Adv Exp Med Biol
; 1281: 269-282, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33433880
14.
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Am J Hum Genet
; 101(1): 87-103, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686858
15.
An atlas of active enhancers across human cell types and tissues.
Nature
; 507(7493): 455-461, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24670763
16.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942284
17.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathol
; 137(6): 879-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739198
18.
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.
Mov Disord
; 34(6): 866-875, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30957308
19.
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts.
Mov Disord
; 34(12): 1839-1850, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505070
20.
Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.
PLoS Comput Biol
; 14(3): e1005934, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29494619