Detalhe da pesquisa
1.
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Nature
; 594(7861): 117-123, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012113
2.
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.
PLoS Genet
; 19(9): e1010932, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721944
3.
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Res
; 51(D1): D167-D178, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399497
4.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
5.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695634
6.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Mov Disord
; 39(3): 486-497, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197134
7.
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.
Brain
; 146(12): 4974-4987, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522749
8.
Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Brain
; 146(5): 1873-1887, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348503
9.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624280
10.
Large-scale rare variant burden testing in Parkinson's disease.
Brain
; 146(11): 4622-4632, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348876
11.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925053
12.
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
; 38(15): 3844-3846, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751589
13.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Brain
; 145(12): 4349-4367, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074904
14.
PhenoExam: gene set analyses through integration of different phenotype databases.
BMC Bioinformatics
; 23(1): 567, 2022 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36587217
15.
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.
Bioinformatics
; 37(18): 2905-2911, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734320
16.
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathol Appl Neurobiol
; 48(1): e12758, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388852
17.
Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis.
Ann Neurol
; 89(5): 942-951, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502028
18.
Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson's disease.
Brain
; 144(6): 1787-1798, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704443
19.
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
Brain
; 144(12): 3727-3741, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34619763
20.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Hum Genet
; 140(10): 1471-1485, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417872