Detalhe da pesquisa
1.
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703371
2.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Circ Res
; 130(2): 166-180, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886679
3.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925053
4.
Cytoplasmic TDP-43 is involved in cell fate during stress recovery.
Hum Mol Genet
; 31(2): 166-175, 2021 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34378050
5.
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord.
Brain
; 145(9): 3108-3130, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512359
6.
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
Proc Natl Acad Sci U S A
; 117(26): 15230-15241, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32513711
7.
A shortened surface electromyography recording is sufficient to facilitate home fasciculation assessment.
Muscle Nerve
; 66(5): 625-630, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054838
8.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
; 142(4): 324-338, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429735
9.
Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies.
J Cell Sci
; 132(5)2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30745340
10.
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
11.
Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiology.
Glia
; 68(5): 1046-1064, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31841614
12.
Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice.
Hum Mol Genet
; 27(3): 463-474, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194538
13.
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
14.
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.
Hum Mol Genet
; 26(24): 4765-4777, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973350
15.
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
16.
A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration.
Brain
; 141(10): 2908-2924, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239641
17.
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Nature
; 495(7442): 467-73, 2013 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23455423
18.
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.
Hum Mol Genet
; 30(3-4): 318-320, 2021 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888026
19.
ALS/FTD-associated FUS activates GSK-3ß to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associations.
EMBO Rep
; 17(9): 1326-42, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27418313
20.
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