Detalhe da pesquisa
1.
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Nat Rev Genet
; 24(9): 642-658, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37024676
2.
Genetic variability in sporadic amyotrophic lateral sclerosis.
Brain
; 146(9): 3760-3769, 2023 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37043475
3.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35521889
4.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Ann Neurol
; 89(4): 686-697, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33389754
5.
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Mov Disord
; 37(6): 1202-1210, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35262230
6.
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Hum Mol Genet
; 28(14): 2309-2318, 2019 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30985904
7.
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
Inglês
| MEDLINE | ID: mdl-30806671
8.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Brain
; 143(3): 783-799, 2020 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32185393
9.
Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration.
Proc Natl Acad Sci U S A
; 115(6): 1358-1363, 2018 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29295933
10.
The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing.
J Biol Chem
; 294(26): 10194-10210, 2019 06 28.
Artigo
Inglês
| MEDLINE | ID: mdl-31092554
11.
A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.
Hum Mol Genet
; 26(11): 2146-2155, 2017 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28379367
12.
Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.
Proc Natl Acad Sci U S A
; 113(41): E6209-E6218, 2016 10 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27681617
13.
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Nature
; 488(7412): 499-503, 2012 Aug 23.
Artigo
Inglês
| MEDLINE | ID: mdl-22801503
14.
Structural basis for mutation-induced destabilization of profilin 1 in ALS.
Proc Natl Acad Sci U S A
; 112(26): 7984-9, 2015 Jun 30.
Artigo
Inglês
| MEDLINE | ID: mdl-26056300
15.
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Hum Mutat
; 38(11): 1534-1541, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28714244
16.
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(7): 1916-22, 2014 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24234648
17.
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Ann Neurol
; 76(1): 120-33, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24931836
18.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24706941
19.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Am J Hum Genet
; 88(6): 729-740, 2011 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21620354
20.
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Nat Commun
; 15(1): 2497, 2024 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38509062