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Issue DateTitleAuthor(s)TypeAccess
21-Oct-2015Limited effect of chronic valproic acid treatment in a mouse model of Machado-Joseph diseaseEsteves, Sofia; Silva, Sara Carina Duarte; Naia, Luana, et al.ArticleOpen access
2014Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph diseaseSilva, Sara Duarte; Carvalho, Andreia Neves; Cunha, Carina Soares, et al.ArticleOpen access
Nov-2003Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practiceCosta, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al.ArticleOpen access
Jan-2012Molecular genetics of intellectual disabilityBessa, C.; Lopes, Fátima; Maciel, P.Book partOpen access
2010Motor and behavioural abnormalities associated with persistent spontaneous epilepsy in the fvb/n mouse strainFernandes, Anabela Silva; Sousa, Nuno; Oliveira, Pedro, et al.ArticleOpen access
Oct-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, et al.ArticleOpen access
22-Jun-2007Neurodevelopment milestone abnormalities in rats exposed to stress in early lifeMesquita, Ana Raquel Marcelino; Pêgo, José M.; Summavielle, Teresa, et al.ArticleRestricted access (UMinho)
Aug-2005Neuroferritinopathy : missense mutation in FTL causing early-onset bilateral pallidal involvementMaciel, P.; Cruz, V. T.; Constante, M., et al.ArticleOpen access
1-Aug-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, et al.ArticleOpen access
May-2018Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3Silva, Sara Carina Duarte; Carvalho, Andreia Alexandra Neves; Cunha, Carina Isabel Soares, et al.ArticleEmbargoed access (1 Year)
2005Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaCosta, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al.ArticleOpen access
2015Novel candidate blood-based transcriptional biomarkers of Machado-Joseph diseaseRaposo, Mafalda; Bettencourt, Conceição; Maciel, P., et al.ArticleOpen access
21-Sep-2017A novel microduplication of ARID1B: Clinical, genetic, and proteomic findingsSeabra, Catarina M.; Szoko, Nicholas; Erdin, Serkan, et al.ArticleOpen access
Jun-2009Nucleocytoplasmic shuttling activity of ataxin-3Maciel, P.; Ribeiro, Sandra Macedo; Cortes, Luísa, et al.ArticleOpen access
2013Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph diseaseKazachkova, Nadiya; Raposo, Mafalda; Montiel, Rafael, et al.ArticleOpen access
2018Pharmacological therapies for Machado-Joseph diseaseSilva, Sara Carina Duarte; Maciel, P.Book partOpen access
2013Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2Lopes, Fátima; Bessa, C.; Maciel, P.ArticleOpen access
2005Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in PortugalLima, M.; Costa, Maria do Carmo; Montiel, R., et al.ArticleOpen access
2019Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph DiseaseEsteves, Sofia; Oliveira, Stéphanie Pereira; Silva, Sara Carina Duarte, et al.ArticleEmbargoed access (1 Year)
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.ArticleOpen access