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Author Title [ Type(Desc)] Year
Filters: Author is MacIel, P.  [Clear All Filters]
Journal Article
Raposo, M., Bettencourt, C., MacIel, P., Gao, F., et al. (2015). Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. Movement Disorders, 30(7), 968 - 975.
Macedo-Ribeiro, S., Cortes, L., MacIel, P., & Carvalho, A. L. (2009). Nucleocytoplasmic shuttling activity of ataxin-3. PLoS ONE, 4(6).
Prior, C., Nunes, A., Rios, M., Sequeiros, J., et al. (2010). Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention. Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria, 72(3), 191 - 198.
Kazachkova, N., Raposo, M., Montiel, R., Cymbron, T., et al. (2013). Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of machado-joseph disease. Neurodegenerative Diseases, 11(4), 206 - 214.
Lima, M., Costa, M. C., Montiel, R., Ferro, A., et al. (2005). Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Human Heredity, 60(3), 156 - 163.
Temudo, T., Santos, M., Ramos, E., Dias, K., et al. (2011). Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain and Development, 33(1), 69 - 76.
Bettencourt, C., Fialho, R. N., Santos, C., Montiel, R., et al. (2008). Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal). Journal of Human Genetics, 53(4), 333 - 339.
Bettencourt, C., Raposo, M., Kazachkova, N., Santos, C., et al. (2012). Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum, 11(4), 1045 - 1050.
Temudo, T., Oliveira, P., Santos, M., Dias, K., et al. (2007). Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations. Neurology, 68(15), 1183 - 1187.
Gales, L., Cortes, L., Almeida, C., Melo, C. V., et al. (2005). Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3. Journal of Molecular Biology, 353(3), 642 - 654.

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