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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.
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.
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.
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.
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.
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.
Bettencourt, C., & Lima, M. (2011). Machado-Joseph disease: From first descriptions to new perspectives. Orphanet Journal of Rare Diseases, 6(1).
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.
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.
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.
Bettencourt, C., Quintáns, B., Ros, R., Ampuero, I., et al. (2012). Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias. Human Mutation, 33(9), 1315 - 1323.
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.
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.
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.

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