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Lista de resultados: 1-10 de um total de 54 resultados (tempo de pesquisa: 0.0 segundos).
DataTítuloAutor(es)TipoAcesso
1-Ago-2011Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathwaysCastro, Andreia Cristiana Teixeira de; Ailion, Michael; Jalles, Ana; Brignull, Heather; Vilaça, João L.; Dias, N. S.; Rodrigues, Pedro L.; Oliveira, João F.; Neves-Carvalho, Andreia; Morimoto, Richard; Maciel, P.ArtigoAcesso aberto
Jun-2015The disruption of proteostasis in neurodegenerative diseasesJalles, Ana; 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
2018Identification of rare de novo epigenetic variations in congenital disordersBarbosa, Mafalda; Joshi, Ricky S.; Garg, Paras; Martin-Trujillo, Alejandro; Patel, Nihir; Jadhav, Bharati; Watson, Corey T.; Gibson, William; Chetnik, Kelsey; Tessereau, Chloe; Mei, Hui; De Rubeis, Silvia; Reichert, Jennifer; Lopes, Fátima Daniela Teixeira; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Grice, Dorothy E.; Edelmann, Lisa; Soares, Gabriela; Maciel, P.; Brunner, Han G.; Buxbaum, Joseph D.; Gelb, Bruce D.; Sharp, Andrew J.ArtigoAcesso aberto
Out-2010Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage productsFernandes, Anabela Silva; Costa, Maria do Carmo; Silva, Sara Carina Duarte; Oliveira, Pedro; Botelho, C. M.; Martins, Luís Filipe Forte Oliveira; Mariz, José; Ferreira, Tiago; Ribeiro, Filipa Pinto; Neves, Margarida Correia; Maciel, P.; Costa, CristinaArtigoAcesso aberto
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
Mar-2013Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disordersBessa, C.; Maciel, P.; Rodrigues, Ana JoãoArtigoAcesso 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
2010Motor and behavioural abnormalities associated with persistent spontaneous epilepsy in the fvb/n mouse strainFernandes, Anabela Silva; Sousa, Nuno; Oliveira, Pedro; Maciel, P.ArtigoAcesso aberto
21-Set-2017A novel microduplication of ARID1B: Clinical, genetic, and proteomic findingsSeabra, Catarina M.; Szoko, Nicholas; Erdin, Serkan; Ragavendran, Ashok; Stortchevoi, Alexei; Maciel, P.; Lundberg, Kathleen; Schlatzer, Daniela; Smith, Janice; Talkowski, Michael E.; et. al.ArtigoAcesso aberto
1-10 de um total de 54 resultados (tempo de pesquisa: 0.0 segundos).

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