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DataTítuloAutor(es)TipoAcesso
2008Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)Bettencourt, Conceição; Fialho, Raquel Nunes; Santos, Cristina, et al.ArtigoAcesso aberto
Mar-2012Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArtigoAcesso aberto
2015Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph diseaseCastro, Andreia Cristiana Teixeira; Sousa, Ana Luísa Jales Monteiro; Esteves, Sofia, et al.ArtigoAcesso aberto
Abr-2007Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutationsTemudo, T.; Oliveira, P.; Santos, M., et al.ArtigoAcesso restrito UMinho
Ago-2007Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese populationCarvalho, Agostinho; Marques, A.; Maciel, P., et al.ArtigoAcesso aberto
Mai-2008T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese populationCarvalho, Agostinho; Santos, M.; Maciel, P., et al.ArtigoAcesso restrito autor
Dez-2018Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's DiseaseRosa, Alexandra Isabel; Silva, Sara Carina Duarte; Silva-Fernandes, Anabela, et al.ArtigoAcesso aberto
Mai-2010The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controlsBettencourt, Conceição; Santos, Cristina; Montiel, Rafael, et al.ArtigoAcesso aberto
Dez-2011The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph diseaseBettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArtigoAcesso aberto
2008The C677T polymorphism in MTHFR is not associated with migraine in PortugalFerro, Anabela; Castro, Maria-José; Lemos, Carolina, et al.ArtigoAcesso aberto
Jan-2018The contribution of 7q33 copy number variations for intellectual disabilityLopes, Fátima Daniela Teixeira; Torres, Fátima; Lynch, Sally Ann, et al.ArtigoAcesso aberto
Jun-2015The disruption of proteostasis in neurodegenerative diseasesJalles, Ana; Maciel, P.ArtigoAcesso aberto
22-Fev-2019The role of AKT3 copy number changes in brain abnormalities and neurodevelopmental disorders: four new cases and literature reviewLopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al.ArtigoAcesso aberto
Jan-2015The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia Type 3 pathogenesisChatterjee, Arpita; Saha, Saikat; Chakraborty, Anirban, et al.ArtigoAcesso aberto
Fev-2012The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphomaCarvalho, Agostinho; Cunha, Cristina; Almeida, A. J., et al.ArtigoAcesso aberto
18-Out-2012Therapeutic strategies for polyQ diseases: from cellular and animal models to the clinicSilva, Sara Carina Duarte; Jalles, Ana; Maciel, P.Capítulo de livroAcesso restrito UMinho
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
7-Fev-2023Transition from animal-based to human induced pluripotent stem cells (iPSCs)-based models of neurodevelopmental disorders: opportunities and challengesGuerreiro, Sara Francisca Ramalhosa; Maciel, P.ArtigoAcesso aberto
Mar-2010Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaPrior, C.; Nunes, A.; Rios, M., et al.ArtigoAcesso restrito autor
2020Unravelling the anticancer potential of functionalized chromeno[2,3-b ] pyridines for breast cancer treatmentOliveira-Pinto, Sofia; Pontes, Olivia; Lopes, Diogo, et al.ArtigoAcesso restrito UMinho
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