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Journal Article
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., 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.
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., 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.
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., 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.
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.

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