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Author Title [ Type(Desc)] Year
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Journal Article
Temudo, T., MacIel, P., & Sequeiros, J. (2007). Abnormal movements in rett syndrome are present before the regression period: A case study. Movement Disorders, 22(15), 2284 - 2287.
Rodrigues, A. - J., do Carmo Costa, M., Silva, T. - L., Ferreira, D., et al. (2010). Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death. Biochimica et Biophysica Acta - Molecular Cell Research, 1803(10), 1154 - 1163.
Rodrigues, A. J., Neves-Carvalho, A., Teixeira-Castro, A., Rokka, A., et al. (2011). Absence of ataxin-3 leads to enhanced stress response in c. elegans. PLoS ONE, 6(4).
Bettencourt, C., Raposo, M., Kazachkova, N., Cymbron, T., et al. (2011). The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Archives of Neurology, 68(12), 1580 - 1583.
do Carmo Costa, M., Bajanca, F., Rodrigues, A. J., Tomé, R. J., et al. (2010). Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels. PloS one, 5(7).
Rodrigues, A. - J., Neves-Carvalho, A., Ferro, A., Rokka, A., et al. (2009). ATX-3, CDC-48 and UBXN-5: A new trimolecular complex in Caenorhabditis elegans. Biochemical and Biophysical Research Communications, 386(4), 575 - 581.
Temudo, T., Freitas, P., Sequeiros, J., MacIel, P., & Oliveira, G. (2008). Atypical stereotypies and vocal ties in rett syndrome: An illustrative case. Movement Disorders, 23(4), 622 - 623.
Ferro, A., Castro, M. - J., Lemos, C., Santos, M., et al. (2008). The C677T polymorphism in MTHFR is not associated with migraine in Portugal. Disease Markers, 25(2), 107 - 113.
Costa, M. D. C., Magalhães, P., Guimarães, L., MacIel, P., et al. (2006). The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation. Journal of Human Genetics, 51(3), 189 - 195.
Bettencourt, C., Santos, C., Montiel, R., Kay, T., et al. (2010). The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls. European Journal of Human Genetics, 18(5), 621 - 623.
Santos, M., Coelho, P. A., & MacIel, P. (2006). Chromatin remodeling and neuronal function: Exciting links. Genes, Brain and Behavior, 5(SUPPL. 2), 80 - 91.
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.
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.
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.
Pinho, T., MacIel, P., Lemos, C., & Sousa, A. (2010). Familial aggregation of maxillary lateral incisor agenesis. Journal of Dental Research, 89(6), 621 - 625.
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.
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.
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.
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., 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.
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.
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.
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.
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.
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.

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