Detalhe da pesquisa
1.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925053
2.
Relationship between smoking and ALS: Mendelian randomisation interrogation of causality.
J Neurol Neurosurg Psychiatry
; 91(12): 1312-1315, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32848012
3.
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
J Neurol Neurosurg Psychiatry
; 90(3): 268-271, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270202
4.
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
Mov Disord
; 34(7): 1049-1059, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059154
5.
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain
; 140(6): 1611-1618, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430856
6.
Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice.
Neurobiol Dis
; 60: 11-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23969236
7.
Comparison Of King's Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts.
Amyotroph Lateral Scler Frontotemporal Degener
; 24(1-2): 71-81, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852375
8.
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Front Cell Neurosci
; 17: 1112405, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36937187
9.
RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data.
iScience
; 25(11): 105289, 2022 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36339261
10.
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
11.
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
12.
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
13.
A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex.
Sci Rep
; 11(1): 14283, 2021 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34253796
14.
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.
Brain Commun
; 3(4): fcab236, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708205
15.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
JAMA Neurol
; 78(10): 1236-1248, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459874
16.
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.
Cell Rep
; 33(4): 108323, 2020 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33113361
17.
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
18.
Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS in the United Kingdom, 2020-2116.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(3-4): 264-274, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961394
19.
Telomere length is greater in ALS than in controls: a whole genome sequencing study.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(3-4): 229-234, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30931641
20.
ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(3-4): 207-215, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30835568