Detalhe da pesquisa
1.
Genetic variability in sporadic amyotrophic lateral sclerosis.
Brain
; 146(9): 3760-3769, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043475
2.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Ann Neurol
; 89(4): 686-697, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389754
3.
Using the structure of genome data in the design of deep neural networks for predicting amyotrophic lateral sclerosis from genotype.
Bioinformatics
; 35(14): i538-i547, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31510706
4.
Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure?
Pharmacogenomics J
; 20(2): 220-226, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31624333
5.
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
J Med Genet
; 55(9): 607-616, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29789371
6.
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Front Cell Neurosci
; 16: 1050596, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36589292
7.
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
NPJ Genom Med
; 7(1): 8, 2022 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091648
8.
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
Nat Neurosci
; 25(4): 433-445, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361972
9.
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study.
Lancet Neurol
; 20(5): 373-384, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894192
10.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nat Genet
; 53(12): 1636-1648, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34873335
11.
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.
Brain Commun
; 2(2): fcaa064, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954321
12.
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
Nat Genet
; 52(12): 1303-1313, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199917
13.
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(5-6): 432-440, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31280677
14.
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
Sci Rep
; 9(1): 5931, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976013
15.
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
Neurobiol Aging
; 74: 234.e9-234.e15, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30342764
16.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Neuron
; 97(6): 1268-1283.e6, 2018 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566793
17.
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nat Genet
; 54(3): 361, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102318
18.
Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
Nat Genet
; 53(2): 254, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353957
19.
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Nat Genet
; 48(9): 1043-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27455348
20.
Unconsented genetic testing in psychiatry: an (almost) no go?
Lancet Psychiatry
; 6(8): 641-642, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327434