Detalhe da pesquisa
1.
Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular condensates.
Mol Cell
; 83(12): 2020-2034.e6, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37295429
2.
Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS.
Acta Neuropathol
; 146(3): 451-475, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488208
3.
Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.
Mol Ther
; 30(1): 47-53, 2022 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33823304
4.
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Genet Med
; 23(5): 968-971, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500571
5.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
6.
Functional characterization of a FUS mutant zebrafish line as a novel genetic model for ALS.
Neurobiol Dis
; 142: 104935, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32380281
7.
Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
EMBO J
; 35(12): 1276-97, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103069
8.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942284
9.
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Trends Genet
; 31(5): 263-73, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25869998
10.
Correction to: Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS.
Acta Neuropathol
; 146(5): 783, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698628
11.
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.
Hum Mol Genet
; 24(6): 1682-90, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25410659
12.
Two novel COLVI long chains in zebrafish that are essential for muscle development.
Hum Mol Genet
; 24(23): 6624-39, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362255
13.
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Am J Hum Genet
; 92(2): 238-44, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332916
14.
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
Hum Mol Genet
; 22(12): 2350-60, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446633
15.
Deciphering spreading mechanisms in amyotrophic lateral sclerosis: clinical evidence and potential molecular processes.
Curr Opin Neurol
; 28(5): 455-61, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26356410
16.
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.
Ann Neurol
; 74(2): 180-7, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23720273
17.
FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.
PLoS Genet
; 7(8): e1002214, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21829392
18.
Microglia Mitigate Neuronal Activation in a Zebrafish Model of Dravet Syndrome.
Cells
; 13(8)2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38667299
19.
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.
Hum Mutat
; 34(6): 812-26, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559573
20.
Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo.
Neurobiol Dis
; 55: 64-75, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23567652