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Journal Article
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.
Lima, M., Silva, K., Amaral, I., Magalhães, A., & de Sousa, L. (2013). Beyond behavioural observations: A deeper view through the sensory reactions of children with profound intellectual and multiple disabilities. Child: Care, Health and Development, 39(3), 422 - 431.
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.
Silva, K., Correia, R., Lima, M., Magalhães, A., & de Sousa, L. (2011). Can dogs prime autistic children for therapy? evidence from a single case study. Journal of Alternative and Complementary Medicine, 17(7), 655 - 659.
Lima, M., Silva, K., Magalhães, A., Amaral, I., et al. (2012). Can you Know me Better? An Exploratory Study Combining Behavioural and Physiological Measurements for an Objective Assessment of Sensory Responsiveness in a Child with Profound Intellectual and Multiple Disabilities. Journal of Applied Research in Intellectual Disabilities, 25(6), 522 - 530.
Jordana, X., Galtés, I., Couto, A. R., Gales, L., et al. (2009). The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis - A postmortem diagnosis. Clinical Rheumatology, 28(3), 353 - 356.
Cymbron, T., Raposo, M., Kazachkova, N., Bettencourt, C., et al. (2011). Cross-sectional study of risk factors for atherosclerosis in the Azorean population. Annals of Human Biology, 38(3), 354 - 359.
Bettencourt, C., Hensman-Moss, D., Flower, M., Wiethoff, S., et al. (2016). DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Annals of Neurology, 79(6), 983 - 990.
Dias, A. M., Dourado, J., Lago, P., Cabral, J., et al. (2014). Dysregulation of T cell receptor N-glycosylation: A molecular mechanism involved in ulcerative colitis. Human Molecular Genetics, 23(9), 2416 - 2427.
Silva, F., Pereira, R., Gusmão, L., Santos, C., et al. (2010). Genetic profiling of the Azores Islands (Portugal): Data from 10 X-chromosome STRS. American Journal of Human Biology, 22(2), 221 - 223.
Santos, C., Alvarez, L., Aluja, M. P., Bruges-Armas, J., & Lima, M. (2009). Genetic structure of the Azores Islands: a study using 15 autosomal short tandem repeat loci. Collegium antropologicum, 33(4), 991 - 999.
Siebert, M., Donis, K. C., Socal, M., Rieder, C. R. M., et al. (2012). Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3. Parkinsonism and Related Disorders, 18(2), 185 - 190.
Magalhães, V., Andrade, E. B., Alves, J., Ribeiro, A., et al. (2013). Group B Streptococcus Hijacks the Host Plasminogen System to Promote Brain Endothelial Cell Invasion. PLoS ONE, 8(5).
Costa, E., Lima, M., Rocha, S., Rocha-Pereira, P., et al. (2008). IL-7 serum levels and lymphopenia in hemodialysis patients, non-responders to recombinant human erythropoietin therapy. Blood Cells, Molecules, and Diseases, 41(1), 134 - 135.
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.
Costa, E., Lima, M., Alves, J. M., Rocha, S., et al. (2008). Inflammation, T-cell phenotype, and inflammatory cytokines in chronic kidney disease patients under hemodialysis and its relationship to resistance to recombinant human erythropoietin therapy. Journal of Clinical Immunology, 28(3), 268 - 275.
Costa, M., Cruz, E., Oliveira, S., Benes, V., et al. (2015). Lymphocyte gene expression signatures from patients and mouse models of hereditary hemochromatosis reveal a function of hfe as a negative regulator of cd8+ t-Lymphocyte activation and differentiation in vivo. PLoS ONE, 10(4).
Bettencourt, C., & Lima, M. (2011). Machado-Joseph disease: From first descriptions to new perspectives. Orphanet Journal of Rare Diseases, 6(1).
Santos, C., Fregel, R., Cabrera, V. M., González, A. M., et al. (2010). Mitochondrial DNA patterns in the macaronesia Islands: Variation within and among archipelagos. American Journal of Physical Anthropology, 141(4), 610 - 619.
A. Paula, D. Cruz, Leitão, C., Marques, O., Rosa, A. M., et al. (2017). Molecular characterization of CD44+/CD24−/Ck+/CD45−cells in benign and malignant breast lesions. Virchows Archiv, 470(3), 311 - 322.
Pereira, R., Costa, E., Gonçalves, M., Miranda, V., et al. (2010). Neutrophil and monocyte activation in chronic kidney disease patients under hemodialysis and its relationship with resistance to recombinant human erythropoietin and to the hemodialysis procedure. Hemodialysis International, 14(3), 295 - 301.
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.
Bettencourt, C., Santos, C., Coutinho, P., Rizzu, P., et al. (2011). Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report. BMC Neurology, 11.
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.
Couto, D., Sousa, R., Andrade, L., Leander, M., et al. (2015). Polyacrylic acid coated and non-coated iron oxide nanoparticles are not genotoxic to human T lymphocytes. Toxicology Letters, 234(2), 67 - 73.

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