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Lista de resultados: 1-10 de um total de 96 resultados (tempo de pesquisa: 0.016 segundos).
DataTítuloAutor(es)TipoAcesso
2018Pharmacological therapies for Machado-Joseph diseaseSilva, Sara Carina Duarte; Maciel, P.Capítulo de livroAcesso 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
Jun-2015The disruption of proteostasis in neurodegenerative diseasesJalles, Ana; Maciel, P.ArtigoAcesso aberto
2017Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent EffortsEsteves, Sofia; Silva, Sara Carina Duarte; Maciel, P.ArtigoAcesso aberto
5-Jan-2016Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3.Maciel, P.; Rodríguez-Cueto, Carmen; Hernández-Gálvez, Mariluz; Hillard, Cecília J.; García-García, Luís; Valdeolivas, Sara; Pozo, Miguel A.; Ramos, José A.; Gómez-Ruiz, Maria; Fernández-Ruiz, JavierArtigoAcesso 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
Abr-2017Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3Rodríguez-Cueto, Carmen; Hernández-Gálvez, Mariluz; Hillard, Cecília J.; Maciel, P.; Valdeolivas, Sara; Ramos, José A.; Gómez-Ruiz, Maria; Fernández-Ruiz, JavierArtigoAcesso 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
2019Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph DiseaseEsteves, Sofia; Oliveira, Stéphanie Pereira; Silva, Sara Carina Duarte; Cunha-Garcia, Daniela; Castro, Andreia Cristiana Teixeira; 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