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Mostrar 3-17 de um total de 17 resultados. < anterior 
DataTítuloAutor(es)TipoAcesso
2006The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutationCosta, Maria do Carmo; Magalhães, Paula; Guimarães, Laura, et al.ArtigoAcesso aberto
2019Citalopram reduces aggregation of ATXN3 in a YAC transgenic mouse model of Machado-Joseph diseaseAshraf, Naila S.; Silva, Sara Carina Duarte; Shaw, Emily D., et al.ArtigoAcesso aberto
2015Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cellsCarvalho, Andreia Alexandra Neves; Logarinho, Elsa; Freitas, Ana, et al.ArtigoAcesso aberto
Ago-2006Exclusion 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 phenotypeCosta, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al.ArtigoAcesso aberto
Abr-2007Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3Rodrigues, Ana João; Coppola, Giovanni; Santos, Cláudia, et al.ArtigoAcesso restrito UMinho
2004Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado–Joseph disease (MJD) geneCosta, Maria do Carmo; Silva, Joana Gomes da; Miranda, Carlos J., et al.ArtigoAcesso aberto
2004Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese originSantos, Mónica; Costa, Maria do Carmo; Rio, Maria Edite, et al.ArtigoAcesso aberto
2010Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)Bettencourt, Conceição; Santos, Cristina; Montiel, Rafael, et al.ArtigoAcesso restrito UMinho
Nov-2003Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practiceCosta, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al.ArtigoAcesso aberto
Out-2010Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage productsFernandes, Anabela Silva; Costa, Maria do Carmo; Silva, Sara Carina Duarte, et al.ArtigoAcesso aberto
Ago-2005Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementMaciel, P.; Cruz, V. T.; Constante, M., et al.ArtigoAcesso aberto
2005Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaCosta, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al.ArtigoAcesso aberto
2005Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in PortugalLima, M.; Costa, Maria do Carmo; Montiel, R., et al.ArtigoAcesso aberto
26-Mai-2008Study of the homologue of the Machado-Joseph disease gene in Mus musculusCosta, Maria do CarmoTese de doutoramentoAcesso aberto
2005Towards a structural understanding of the fibrillization pathway in Machado-Joseph’s disease: trapping early oligomers of non-expanded ataxin-3Gales, Luís; Cortes, Luísa; Almeida, Carla, et al.ArtigoAcesso aberto
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