Browsing by Author Maciel, Patrícia

Results 1 to 7 of 7
Issue DateTitleAuthor(s)TypeAccess
Mar-2012Clinical relevance of copy number variations detected by array-coh in six patients with unexplained non-syndromic intellectual disabilityFerraz, Ana Isabel Borges masterThesisopenAccess
5-Jul-2019Genomic imbalances defining novel intellectual disability associated lociLopes, Fátima ; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico ; Rocha, Miguel ; Sá, Joaquim ; Oliveira, Guiomar ; Sá, Maria João ; Temudo, Teresa; Sousa, Susana; Marques, Carla; Lopes, Sofia Maia ; Gomes, Catarina; Barros, Gisela; Jorge, Arminda; Rocha, Felisbela; Martins, Cecília; Mesquita, Sandra; Loureiro, Susana; Cardoso, Elisa Maria; Cálix, Maria José; Dias, Andreia; Martins, Cristina; Mota, Céu R.; Antunes, Diana ; Dupont, Juliette; Figueiredo, Sara; Figueiroa, Sónia; Gama-de-Sousa, Susana; Cruz, Sara; Sampaio, Adriana ; Eijk, Paul; Weiss, Marjan M.; Ylstra, Bauke; Rendeiro, Paula; Tavares, Purificação; Reis-Lima, Margarida; Pinto-Basto, Jorge; Fortuna, Ana Maria; Maciel, Patrícia articleopenAccess
27-Feb-2014Interplay between the Ubiquitin-Proteasome System and mechanisms of neurodegeneration in the context of Machado-Joseph disease (Tese corrigida)Baptista, Márcio doctoralThesisembargoedAccess
2015Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph DiseaseEsteves, Sofia; Duarte-Silva, Sara; Naia, Luana ; Neves-Carvalho, Andreia; Teixeira-Castro, Andreia ; Rego, Ana Cristina ; Silva-Fernandes, Anabela; Maciel, Patrícia articleopenAccess
3-Oct-2023Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph DiseaseAlmeida, Filipa ; Ferreira, Ildete L. ; Naia, Luana ; Marinho, Daniela ; Vilaça-Ferreira, Ana Catarina; Costa, Marta D.; Duarte-Silva, Sara; Maciel, Patrícia ; Rego, A. Cristina articleopenAccess
2007NEDD8: A new ataxin-3 interactorFerro, Anabela ; Carvalho, Ana Luísa ; Teixeira-Castro, Andreia ; Almeida, Carla ; Tomé, Ricardo J. ; Cortes, Luísa ; Rodrigues, Ana-João ; Logarinho, Elsa ; Sequeiros, Jorge ; Macedo-Ribeiro, Sandra ; Maciel, Patrícia articleopenAccess
2009Nucleocytoplasmic Shuttling Activity of Ataxin-3Macedo-Ribeiro, Sandra ; Cortes, Luísa ; Maciel, Patrícia ; Carvalho, Ana Luísa articleopenAccess