Detalhe da pesquisa
1.
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum Mutat
; 38(11): 1534-1541, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714244
2.
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Sci Transl Med
; 14(633): eabj0264, 2022 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196023
3.
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
4.
Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies.
NAR Genom Bioinform
; 2(4): lqaa105, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33554115
5.
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
6.
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
7.
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
8.
Associations of autozygosity with a broad range of human phenotypes.
Nat Commun
; 10(1): 4957, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673082
9.
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model.
Lancet Neurol
; 17(5): 423-433, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29598923
10.
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
11.
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
Neurobiol Aging
; 39: 220.e9-15, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26777436
12.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Nat Genet
; 48(9): 1037-42, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27455347
13.
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