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Author Title [ Type(Desc)] Year
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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.
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.
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.
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.
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., 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.
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.
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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