Mostrar 27-46 de um total de 105 resultados.
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Data | Título | Autor(es) | Tipo | Acesso |
Jan-2009 | Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment | Temudo, T.; Rios, M.; Prior, C., et al. | Artigo | Acesso aberto |
Abr-2007 | Evidence for abnormal early development in a mouse model of Rett syndrome | Santos, Mónica; Silva-Fernandes, Anabela; Oliveira, P., et al. | Artigo | Acesso restrito UMinho |
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 |
Jun-2010 | Familial aggregation of maxillary lateral incisor agenesis | Maciel, P.; Pinho, Teresa; Lemos, C., et al. | Artigo | Acesso aberto |
2019 | From pathogenesis to novel therapeutics for spinocerebellar ataxia Type 3: Evading potholes on the way to translation | Da Silva, Jorge Diogo; Castro, Andreia Cristiana Teixeira; Maciel, P. | Artigo | Acesso restrito UMinho |
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 |
25-Jun-2023 | Genetic ablation of inositol 1,4,5-Trisphosphate receptor type 2 (IP3R2) fails to modify disease progression in a mouse model of Spinocerebellar Ataxia type 3 | Garcia, Daniela Raquel Cunha; Fernandes, Daniela Monteiro; Correia, Joana Sofia, et al. | Artigo | Acesso aberto |
Jul-2003 | Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients | Alizadeh, Mehdi; Babron, Marie-Claude; Birebent, Brigitte, et al. | Artigo | Acesso restrito UMinho |
5-Jul-2019 | Genomic imbalances defining novel intellectual disability associated loci | Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al. | Artigo | Acesso aberto |
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 |
2019 | GST-4-dependent suppression of neurodegeneration in C. elegans models of Parkinson's and Machado-Joseph disease by rapeseed pomace extract supplementation | Paul, Franziska; Castro, Andreia Cristiana Teixeira; Costa, Marta Daniela, et al. | Artigo | Acesso aberto |
9-Fev-2016 | Identification of novel genetic causes of Rett syndrome-like phenotypes | Lopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al. | Artigo | Acesso aberto |
2018 | Identification of rare de novo epigenetic variations in congenital disorders | Barbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al. | Artigo | Acesso aberto |
Jan-2015 | Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. | Gao, Rui; Liu, Yongping; Fernandes, Anabela Silva, 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 |
Set-2015 | Institutionalization and indiscriminate social behavior: differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes | Mesquita, Ana Raquel Marcelino; Belsky, J.; Li, Z., et al. | Artigo | Acesso restrito UMinho |
16-Jun-2023 | Learning the biochemical basis of axonal guidance: using Caenorhabditis elegans as a model | Castro, Andreia Cristiana Teixeira; Sousa, João Carlos; Vieira, Cármen Maria Leal, et al. | Artigo | Acesso aberto |
21-Out-2015 | Limited effect of chronic valproic acid treatment in a mouse model of Machado-Joseph disease | Esteves, Sofia; Silva, Sara Carina Duarte; Naia, Luana, et al. | Artigo | Acesso aberto |
Out-2006 | Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans | Santos, Monica; Maciel, P.; The GAMES Collaborative Group | Artigo | Acesso restrito UMinho |