Data | Título | Autor(es) | Tipo | Acesso |
Out-2010 | Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death | Rodrigues, Ana João; Costa, Maria do Carmo; Silva, Teresa L, et al. | Artigo | Acesso restrito autor |
Jul-2010 | Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels | Costa, Maria do Carmo; Bajanca, Fernanda; Rodrigues, Ana João, et al. | Artigo | Acesso aberto |
2006 | The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation | Costa, Maria do Carmo; Magalhães, Paula; Guimarães, Laura, et al. | Artigo | Acesso aberto |
2019 | Citalopram reduces aggregation of ATXN3 in a YAC transgenic mouse model of Machado-Joseph disease | Ashraf, Naila S.; Silva, Sara Carina Duarte; Shaw, Emily D., et al. | Artigo | Acesso aberto |
2015 | Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells | Carvalho, Andreia Alexandra Neves; Logarinho, Elsa; Freitas, Ana, et al. | Artigo | Acesso aberto |
Ago-2006 | Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype | Costa, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al. | Artigo | Acesso aberto |
Abr-2007 | Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3 | Rodrigues, Ana João; Coppola, Giovanni; Santos, Cláudia, et al. | Artigo | Acesso restrito UMinho |
2004 | Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) gene | Costa, Maria do Carmo; Silva, Joana Gomes da; Miranda, Carlos J., et al. | Artigo | Acesso aberto |
2004 | Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin | Santos, Mónica; Costa, Maria do Carmo; Rio, Maria Edite, et al. | Artigo | Acesso aberto |
2010 | Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3) | Bettencourt, Conceição; Santos, Cristina; Montiel, Rafael, et al. | Artigo | Acesso restrito UMinho |
Nov-2003 | Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice | Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al. | Artigo | Acesso aberto |
Out-2010 | Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products | Fernandes, Anabela Silva; Costa, Maria do Carmo; Silva, Sara Carina Duarte, et al. | Artigo | Acesso aberto |
Ago-2005 | Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement | Maciel, P.; Cruz, V. T.; Constante, M., et al. | Artigo | Acesso aberto |
2005 | Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea | Costa, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al. | Artigo | Acesso aberto |
2005 | Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal | Lima, M.; Costa, Maria do Carmo; Montiel, R., et al. | Artigo | Acesso aberto |
26-Mai-2008 | Study of the homologue of the Machado-Joseph disease gene in Mus musculus | Costa, Maria do Carmo | Tese de doutoramento | Acesso aberto |
2005 | Towards a structural understanding of the fibrillization pathway in Machado-Joseph’s disease: trapping early oligomers of non-expanded ataxin-3 | Gales, Luís; Cortes, Luísa; Almeida, Carla, et al. | Artigo | Acesso aberto |