Detalhe da pesquisa
1.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Ann Neurol
; 95(2): 400-406, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962377
2.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Neurobiol Dis
; 193: 106456, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423193
3.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Brain
; 146(10): 4132-4143, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071051
4.
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Neuropathol Appl Neurobiol
; 49(2): e12892, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798010
5.
Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.
Cerebellum
; 22(1): 37-45, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034258
6.
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.
Neurobiol Dis
; 162: 105578, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871736
7.
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
Eur J Neurol
; 29(8): 2439-2452, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35478426
8.
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.
Mov Disord
; 36(11): 2675-2681, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34397117
9.
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD).
Adv Exp Med Biol
; 1049: 309-319, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427111
10.
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Ann Neurol
; 79(6): 983-90, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27044000
11.
Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease.
Cerebellum
; 16(5-6): 957-963, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28699106
12.
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Brain
; 143(4): e25, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154839
13.
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.
Mov Disord
; 30(7): 968-75, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914309
14.
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).
BMC Neurol
; 14: 17, 2014 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24450306
15.
Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3.
J Clin Invest
; 134(5)2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38227368
16.
Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.
Neurodegener Dis
; 11(4): 206-14, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832131
17.
The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.
Biomedicines
; 11(2)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830784
18.
Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease.
Cells
; 12(10)2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408238
19.
Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
medRxiv
; 2023 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163081
20.
Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).
Cerebellum
; 11(4): 1045-50, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422287