Detalhe da pesquisa
1.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Nature
; 603(7899): 131-137, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35197628
2.
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Res
; 51(D1): D167-D178, 2023 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36399497
3.
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
Inglês
| MEDLINE | ID: mdl-38197134
4.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36624280
5.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36925053
6.
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
; 38(15): 3844-3846, 2022 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35751589
7.
Polygenic risk of Alzheimer's disease in the Faroe Islands.
Eur J Neurol
; 29(8): 2192-2200, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35384166
8.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol
; 28(4): 1344-1355, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33220101
9.
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
Muscle Nerve
; 60(3): 311-314, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31241196
10.
DNAJC13 mutations in Parkinson disease.
Hum Mol Genet
; 23(7): 1794-801, 2014 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24218364
11.
DNAJC13 genetic variants in parkinsonism.
Mov Disord
; 30(2): 273-8, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25393719
12.
Genetic variability of the retromer cargo recognition complex in parkinsonism.
Mov Disord
; 30(4): 580-4, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25475142
13.
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
medRxiv
; 2024 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38293014
14.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Lancet Neurol
; 23(6): 603-614, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38614108
15.
Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
medRxiv
; 2023 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37425910
16.
Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene.
Parkinsonism Relat Disord
; 96: 88-90, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35248831
17.
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Nat Commun
; 13(1): 7496, 2022 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36470867
18.
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nat Commun
; 12(1): 2076, 2021 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33824317
19.
Neuropathological findings in PINK1-associated Parkinson's disease.
Parkinsonism Relat Disord
; 78: 105-108, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32814227
20.
DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1.
Neurosci Lett
; 706: 114-122, 2019 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31082451