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DataTítuloAutor(es)TipoAcesso
2016Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implicationsTorres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P.ArtigoAcesso aberto
2015Redefining the MED13L syndromeLopes, Fátima Daniela Teixeira; Adegbola, Abidemi; Musante, Luciana, et al.ArtigoAcesso aberto
Jan-2011Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTemudo, Teresa; Santos, Mónica; Ramos, Elisabete, et al.ArtigoAcesso aberto
2018Revalorisation of rapeseed pomace extracts: an in vitro study into its anti-oxidant and DNA protective propertiesPohl, Franziska; Goua, Marie; Bermano, Giovanna, et al.ArtigoAcesso aberto
Ago-2012Role of the ubiquitin–proteasome system in nervous system function and disease : using C. elegans as a dissecting toolBaptista, Márcio S.; Duarte, Carlos B.; Maciel, P.ArtigoAcesso restrito UMinho
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
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