Export 35 results:
Author Title [ Type(Asc)] Year
Filters: Author is MacIel, P.  [Clear All Filters]
Journal Article
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.
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.
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.
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.
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.
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.
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.
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.
Macedo-Ribeiro, S., Cortes, L., MacIel, P., & Carvalho, A. L. (2009). Nucleocytoplasmic shuttling activity of ataxin-3. PLoS ONE, 4(6).
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.
do Carmo Costa, M., Costa, C., Silva, A. P., Evangelista, P., et al. (2005). Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics, 6(4), 209 - 215.
MacIel, P., Cruz, V. T., Constante, M., Iniesta, I., et al. (2005). Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology, 65(4), 603 - 605.
Mesquita, A. R., Pêgo, J. M., Summavielle, T., MacIel, P., et al. (2007). Neurodevelopment milestone abnormalities in rats exposed to stress in early life. Neuroscience, 147(4), 1022 - 1033.
Ferro, A., Carvalho, A. L., Teixeira-Castro, A., Almeida, C., et al. (2007). NEDD8: A new ataxin-3 interactor. Biochimica et Biophysica Acta - Molecular Cell Research, 1773(11), 1619 - 1627.
Temudo, T., Ramos, E., Dias, K., Barbot, C., et al. (2008). Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement Disorders, 23(10), 1384 - 1390.
Santos, M., Summavielle, T., Teixeira-Castro, A., Silva-Fernandes, A., et al. (2010). Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome. Neuroscience, 170(2), 453 - 467.
Bettencourt, C., Santos, C., Montiel, R., do Carmo Costa, M., et al. (2010). Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3). Neurogenetics, 11(2), 193 - 202.
Santos, M., do Carmo Costa, M., Edite Rio, M., José Sá, M., et al. (2004). Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis, 10(2), 153 - 157.
do Carmo Costa, M., Gomes-da-Silva, J., Miranda, C. J., Sequeiros, J., et al. (2004). Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene. Genomics, 84(2), 361 - 373.
Rodrigues, A. - J., Coppola, G., Santos, C., Costa, M. D. C., et al. (2007). Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. FASEB Journal, 21(4), 1126 - 1136.
Pinho, T., MacIel, P., Lemos, C., & Sousa, A. (2010). Familial aggregation of maxillary lateral incisor agenesis. Journal of Dental Research, 89(6), 621 - 625.
Costa, M. D. C., Teixeira-Castro, A., Constante, M., Magalhães, M., et al. (2006). Exclusion 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 phenotype. Journal of Human Genetics, 51(8), 645 - 651.
Temudo, T., Rios, M., Prior, C., Carrilho, I., et al. (2009). Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment. Brain and Development, 31(1), 46 - 51.
Neves-Carvalho, A., Logarinho, E., Freitas, A., Duarte-Silva, S., et al. (2015). Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells. Human Molecular Genetics, 24(1), 100 - 117.
Santos, M., Coelho, P. A., & MacIel, P. (2006). Chromatin remodeling and neuronal function: Exciting links. Genes, Brain and Behavior, 5(SUPPL. 2), 80 - 91.


Home | Site Map | Contacts | Credits | Privacy & Cookies | Intranet | Social Networks |

rua alfredo allen, 208, 4200-135 porto - portugal | tel +351 220 408 800 | email: info@ibmc.up.pt | © copyright 2010 ibmc