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Lista de resultados: 1-10 de um total de 11 resultados (tempo de pesquisa: 0.0 segundos).
DataTítuloAutor(es)TipoAcesso
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; Fang, Xiang; Paulucci- Holthauzen, Adriana; Chatterjee, Arpita; Zhang, Hang L.; Matsuura, Tohru; Choudhary, Sanjeev; Ashizawa, Tetsuo; Koeppen, Arnulf H.; Maciel, P.; Hazra, Tapas K.; Sarkar, Partha S.ArtigoAcesso aberto
2015Novel candidate blood-based transcriptional biomarkers of Machado-Joseph diseaseRaposo, Mafalda; Bettencourt, Conceição; Maciel, P.; Gao, Fuying; Ramos, Amanda; Kazachkova, Nadiya; Vasconcelos, João; Kay, Teresa; Rodrigues, Ana João; Bettencourt, Bruno; Bruges-Armas, Jácome; Geschwind, Daniel; Coppola, Giovanni; Lima, ManuelaArtigoAcesso aberto
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.; Baptista, J.; Carvalho-Correia, Eduarda; Maciel, P.; Soares, IsabelArtigoAcesso restrito UMinho
2015Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3)Ramos, Amanda; Kazachkova, Nadiya; Silva, Francisca; Maciel, P.; Fernandes, Anabela Silva; Silva, Sara Carina Duarte; Santos, Cristina; Lima, ManuelaArtigoAcesso aberto
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; Sousa, Maria Vânia; Moura, Sofia; Sousa, Susana; Costa, Bruno M.; Barbosa, Mafalda Fernanda Cabral Santos; Ylstra, Bauke; Temudo, Teresa; Lourenço, Teresa; Maciel, P.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; Carvalho, Andreia Alexandra Neves; Castro, Andreia Cristiana Teixeira; Rego, Ana Cristina; Fernandes, Anabela Silva; Maciel, P.ArtigoAcesso aberto
Jun-2015The disruption of proteostasis in neurodegenerative diseasesJalles, Ana; Maciel, P.ArtigoAcesso aberto
2015Redefining the MED13L syndromeLopes, Fátima Daniela Teixeira; Adegbola, Abidemi; Musante, Luciana; Maciel, P.; Hao Hu; Isidor, Bertrand; Picker-Minh, Sylvie; Caignec, Cedric Le; Lopes, Fátima; Chiaie, Barbara DelleArtigoAcesso 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; Santos, Liliana da Silva; Fernandes, Anabela Silva; Bessa, Carlos Jorge Pereira; Silva, Sara Carina Duarte; Miranda, Adriana; Oliveira, Stéphanie Pereira; Carvalho, Andreia Alexandra Neves; Bessa, João; Maciel, P.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; Silva-Fernandes, Anabela; Mandal, Santi M.; Neves-Carvalho, Andreia; Liu, Yongping; Pandita, Raj K.; Hegde, Muralidhar L.; Hegde, Pavana M.; Boldogh, Istvan; Ashizawa, Tetsuo; Koeppen, Arnulf H.; Pandita, Tej K.; Maciel, P.; Sarkar, Partha S.; Hazra, Tapas K.ArtigoAcesso aberto