Detalhe da pesquisa
1.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Brain
; 143(3): 783-799, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185393
2.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Epilepsia
; 61(5): 995-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32469098
3.
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.
Brain
; 142(12): 3753-3770, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605140
4.
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; : 1-10, 2023 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534756
5.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Nat Commun
; 13(1): 6901, 2022 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371497
6.
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Neurobiol Aging
; 106: 351.e1-351.e6, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272080
7.
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
8.
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
9.
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nat Neurosci
; 23(2): 295, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857710
10.
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
11.
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Nat Neurosci
; 22(12): 1966-1974, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31768050
12.
The role of positive selection in determining the molecular cause of species differences in disease.
BMC Evol Biol
; 8: 273, 2008 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18837980
13.
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Neurobiol Aging
; 71: 266.e1-266.e10, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30033073
14.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Neuron
; 97(6): 1268-1283.e6, 2018 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566793
15.
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Sci Transl Med
; 9(388)2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28469040
16.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Nat Genet
; 48(9): 1037-42, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27455347
17.
New methods for researching accessory proteins.
J Mol Neurosci
; 26(2-3): 265-76, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16012200
18.
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.
Amyotroph Lateral Scler Frontotemporal Degener
; 15(7-8): 557-62, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899262
19.
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.
Neurobiol Aging
; 33(11): 2721.e1-2, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22789697
20.
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.
Neurobiol Aging
; 33(12): 2948.e15-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22892313