Detalhe da pesquisa
1.
A review of Mendelian randomization in amyotrophic lateral sclerosis.
Brain
; 145(3): 832-842, 2022 04 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34791088
2.
Advances in the genetic classification of amyotrophic lateral sclerosis.
Curr Opin Neurol
; 34(5): 756-764, 2021 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34343141
3.
Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration.
Brain
; 143(5): 1332-1340, 2020 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31724708
4.
Non-coding genome contribution to ALS.
Int Rev Neurobiol
; 176: 75-86, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38802183
5.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Heliyon
; 10(3): e24975, 2024 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38317984
6.
Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.
medRxiv
; 2024 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38633814
7.
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
Life Sci Alliance
; 6(1)2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36241425
8.
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Brain Pathol
; 33(1): e13104, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35871544
9.
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
bioRxiv
; 2022 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35291294
10.
Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis.
Brain Commun
; 4(2): fcac069, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35441136
11.
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis.
Neuron
; 110(6): 992-1008.e11, 2022 03 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35045337
12.
Membrane lipid raft homeostasis is directly linked to neurodegeneration.
Essays Biochem
; 65(7): 999-1011, 2021 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34623437
13.
Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes.
EBioMedicine
; 68: 103397, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34051439
14.
Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion.
Amyotroph Lateral Scler Frontotemporal Degener
; 22(7-8): 579-582, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33284045
15.
Preclinical models of disease and multimorbidity with focus upon cardiovascular disease and dementia.
Mech Ageing Dev
; 192: 111361, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32998028
16.
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(7-8): 627-630, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32619119
17.
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cell Rep
; 33(9): 108456, 2020 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33264630
18.
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
Cell Rep
; 26(9): 2298-2306.e5, 2019 02 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30811981
19.
Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.
Cell Rep
; 34(5): 108730, 2021 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33535055