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.
Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS.
Hum Mol Genet
; 28(13): 2143-2160, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806671
4.
Advances in the genetic classification of amyotrophic lateral sclerosis.
Curr Opin Neurol
; 34(5): 756-764, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34343141
5.
Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration.
Proc Natl Acad Sci U S A
; 115(6): 1358-1363, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29295933
6.
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
7.
Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.
Genomics
; 105(4): 237-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620680
8.
Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis.
Ann Neurol
; 74(5): 699-708, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23836460
9.
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
J Med Genet
; 50(11): 776-83, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23881933
10.
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
em Inglês
| MEDLINE | ID: mdl-38317984
11.
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Nat Genet
; 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38858457
12.
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
em Inglês
| MEDLINE | ID: mdl-38633814
13.
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Hum Mutat
; 34(6): 836-41, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23447461
14.
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity.
Cell Syst
; 13(8): 598-614.e6, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690068
15.
Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis.
Brain Commun
; 4(2): fcac069, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441136
16.
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis.
Neuron
; 110(6): 992-1008.e11, 2022 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045337
17.
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
18.
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
19.
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
20.
Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.
J Neurol Neurosurg Psychiatry
; 82(6): 623-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21047878