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Journal Article
Ramos, A., Raposo, M., Milà, M., Bettencourt, C., et al. (2016). Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias. Journal of Molecular Neuroscience, 58(1), 83 - 87.
Melo, A. R. V., Ramos, A., Kazachkova, N., Raposo, M., et al. (2016). Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3). Molecular Diagnosis and Therapy, 20(6), 617 - 622.
Bettencourt, C., Raposo, M., Ros, R., Montiel, R., et al. (2013). Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions. Journal of Molecular Neuroscience, 49(3), 539 - 543.
Amaral, A. F. S., Cymbron, T., Gärtner, F., Lima, M., & Rodrigues, A. S. (2009). Trace metals and over-expression of metallothioneins in bladder tumoral lesions: A case-control study. BMC Veterinary Research, 5.
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.
Bettencourt, B. F., Rocha, F. L., Alves, H., Amorim, R., et al. (2013). Protective effect of an ERAP1 haplotype in ankylosing spondylitis: Investigating non-MHC genes in HLA-B27-positive individuals. Rheumatology (United Kingdom), 52(12), 2168 - 2176.
Raposo, M., Bettencourt, C., Ramos, A., Kazachkova, N., et al. (2017). Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients. NeuroMolecular Medicine, 19(1), 41 - 45.
Kazachkova, N., Raposo, M., Ramos, A., Montiel, R., & Lima, M. (2017). Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease. Cerebellum, 16(5-6), 957 - 963.
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.
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.
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.
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.
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.
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.
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.
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.
Bettencourt, C., & Lima, M. (2011). Machado-Joseph disease: From first descriptions to new perspectives. Orphanet Journal of Rare Diseases, 6(1).
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).
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.
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., 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.

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