Detalhe da pesquisa
1.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
; 27(11): 1895-1903, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28887402
2.
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis.
Neurobiol Aging
; 122: 76-87, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36521271
3.
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
4.
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
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.
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
9.
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
10.
[Intracranial hypotension syndrome following manipulation of the cervical spine]. / Liquorhypotensiesyndroom na cervicale manipulatie.
Ned Tijdschr Geneeskd
; 158: A7050, 2014.
Artigo
em Holandês
| MEDLINE | ID: mdl-24518846