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Showing results 41 to 59 of 59. < previous 
Issue DateTitleAuthor(s)TypeAccess
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.ArticleOpen access
2015Redefining the MED13L syndromeLopes, Fátima Daniela Teixeira; Adegbola, Abidemi; Musante, Luciana, et al.ArticleOpen access
Jan-2011Rett syndrome with and without detected MECP2 mutations : an attempt to redefine phenotypesTemudo, Teresa; Santos, Mónica; Ramos, Elisabete, et al.ArticleOpen access
2018Revalorisation of rapeseed pomace extracts: an in vitro study into its anti-oxidant and DNA protective propertiesPohl, Franziska; Goua, Marie; Bermano, Giovanna, et al.ArticleEmbargoed access (1 Year)
Aug-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.ArticleRestricted access (UMinho)
Mar-2012Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArticleOpen access
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.ArticleOpen access
Dec-2018Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's DiseaseRosa, Alexandra Isabel; Silva, Sara Carina Duarte; Silva-Fernandes, Anabela, et al.ArticleEmbargoed access (1 Year)
Dec-2011The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph diseaseBettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya, et al.ArticleOpen access
Jan-2018The contribution of 7q33 copy number variations for intellectual disabilityLopes, Fátima Daniela Teixeira; Torres, Fátima; Lynch, Sally Ann, et al.ArticleOpen access
Jun-2015The disruption of proteostasis in neurodegenerative diseasesJalles, Ana; Maciel, P.ArticleOpen access
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.ArticleOpen access
Feb-2012The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphomaCarvalho, Agostinho; Cunha, Cristina; Almeida, A. J., et al.ArticleOpen access
18-Oct-2012Therapeutic strategies for polyQ diseases: from cellular and animal models to the clinicSilva, Sara Carina Duarte; Jalles, Ana; Maciel, P.Book partRestricted access (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.ArticleOpen access
Mar-2013Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disordersBessa, C.; Maciel, P.; Rodrigues, Ana JoãoArticleOpen access
10-Nov-2015Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 geneVieira, José Pedro; Lopes, Fátima Daniela Teixeira; Fernandes, Anabela Silva, et al.ArticleOpen access
Oct-2017Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental diseaseLopes, Fátima Daniela Teixeira; Soares, Gabriela; Rocha, Miguel Gonçalves, et al.ArticleOpen access
2003A whole genome screen for association with multiple sclerosis in portuguese patientsSantos, M.; Pinto-Basto, J.; Rio, M. E., et al.ArticleOpen access