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DataTítuloAutor(es)TipoAcesso
2006The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutationCosta, Maria do Carmo; Magalhães, Paula; Guimarães, Laura, et al.ArtigoAcesso aberto
2006Chromatin remodeling and neuronal function: exciting linksSantos, Monica; Coelho, P. A.; Maciel, P.ArtigoAcesso aberto
2014Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph diseaseFernandes, Anabela Silva; Silva, Sara Duarte; Carvalho, Andreia Neves, et al.ArtigoAcesso aberto
2019Citalopram reduces aggregation of ATXN3 in a YAC transgenic mouse model of Machado-Joseph diseaseAshraf, Naila S.; Silva, Sara Carina Duarte; Shaw, Emily D., et al.ArtigoAcesso aberto
Nov-2013Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsSanten, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T., et al.ArtigoAcesso restrito UMinho
Jan-2016Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph diseaseSilva, Sara Carina Duarte; Fernandes, Anabela Silva; Carvalho, Andreia Alexandra Neves, et al.ArtigoAcesso aberto
Dez-2020Data on the effects of Hyptis spp. and Lycium spp. plant extracts in C. elegans models of genetically determined neurodegenerative diseasesVilasboas-Campos, Daniela; Costa, Marta Daniela; Teixeira-Castro, Andreia, et al.ArtigoAcesso aberto
2005Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)Shi, Jinxiu; Shibayama, Akane; Liu, Qiang, et al.ArtigoAcesso aberto
Ago-2005Developmental absence of maxillary lateral incisors in the Portuguese populationPinho, Teresa; Tavares, Purificação; Maciel, P., et al.ArtigoAcesso aberto
19-Dez-2009Developmental disturbances associated with agenesis of the permanent maxillary lateral incisorPinho, T.; Maciel, P.; Pollmann, C.ArtigoAcesso aberto
2015Differential mtDNA damage patterns in a transgenic mouse model of Machado-Joseph disease (MJD/SCA3)Ramos, Amanda; Kazachkova, Nadiya; Silva, Francisca, et al.ArtigoAcesso aberto
2017Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent EffortsEsteves, Sofia; Silva, Sara Carina Duarte; Maciel, P.ArtigoAcesso aberto
2015Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cellsCarvalho, Andreia Alexandra Neves; Logarinho, Elsa; Freitas, Ana, et al.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, et al.ArtigoAcesso aberto
Jan-2009Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatmentTemudo, T.; Rios, M.; Prior, C., et al.ArtigoAcesso aberto
Abr-2007Evidence for abnormal early development in a mouse model of Rett syndromeSantos, Mónica; Silva-Fernandes, Anabela; Oliveira, P., et al.ArtigoAcesso restrito UMinho
Ago-2006Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotypeCosta, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al.ArtigoAcesso aberto
Jun-2010Familial aggregation of maxillary lateral incisor agenesisMaciel, P.; Pinho, Teresa; Lemos, C., et al.ArtigoAcesso aberto
2019From pathogenesis to novel therapeutics for spinocerebellar ataxia Type 3: Evading potholes on the way to translationDa Silva, Jorge Diogo; Castro, Andreia Cristiana Teixeira; Maciel, P.ArtigoAcesso restrito UMinho
Abr-2007Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3Rodrigues, Ana João; Coppola, Giovanni; Santos, Cláudia, et al.ArtigoAcesso restrito UMinho
Mostrar 13-32 de um total de 105 resultados. < anterior   próximo >