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DataTítuloAutor(es)TipoAcesso
5-Jul-2019Genomic imbalances defining novel intellectual disability associated lociLopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al.ArtigoAcesso aberto
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
2019GST-4-dependent suppression of neurodegeneration in C. elegans models of Parkinson's and Machado-Joseph disease by rapeseed pomace extract supplementationPaul, Franziska; Castro, Andreia Cristiana Teixeira; Costa, Marta Daniela, et al.ArtigoAcesso aberto
9-Fev-2016Identification of novel genetic causes of Rett syndrome-like phenotypesLopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al.ArtigoAcesso aberto
2018Identification of rare de novo epigenetic variations in congenital disordersBarbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al.ArtigoAcesso aberto
Jan-2015Inactivation 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.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
Set-2015Institutionalization and indiscriminate social behavior: differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypesMesquita, Ana Raquel Marcelino; Belsky, J.; Li, Z., et al.ArtigoAcesso restrito UMinho
16-Jun-2023Learning the biochemical basis of axonal guidance: using Caenorhabditis elegans as a modelCastro, Andreia Cristiana Teixeira; Sousa, João Carlos; Vieira, Cármen Maria Leal, et al.ArtigoAcesso aberto
21-Out-2015Limited effect of chronic valproic acid treatment in a mouse model of Machado-Joseph diseaseEsteves, Sofia; Silva, Sara Carina Duarte; Naia, Luana, et al.ArtigoAcesso aberto
Out-2006Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in EuropeansSantos, Monica; Maciel, P.; The GAMES Collaborative GroupArtigoAcesso restrito UMinho
2014Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph diseaseSilva, Sara Duarte; Carvalho, Andreia Neves; Cunha, Carina Soares, et al.ArtigoAcesso aberto
Jun-2007MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patientsCoutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile, et al.ArtigoAcesso restrito UMinho
25-Jun-2022Microglial depletion has no impact on disease progression in a mouse model of machado–joseph diseaseCampos, Ana Bela; Silva, Sara Carina Duarte; Fernandes, Bruno, et al.ArtigoAcesso aberto
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
Jan-2012Molecular genetics of intellectual disabilityBessa, C.; Lopes, Fátima; Maciel, P.Capítulo de livroAcesso aberto
13-Out-2010Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndromeSantos, M.; Summavielle, T.; Teixeira-Castro, A., et al.ArtigoAcesso restrito UMinho
2010Motor and behavioural abnormalities associated with persistent spontaneous epilepsy in the fvb/n mouse strainFernandes, Anabela Silva; Sousa, Nuno; Oliveira, Pedro, 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
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