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Author Title [ Type(Desc)] Year
Filters: Author is Lima, M.  [Clear All Filters]
Journal Article
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.
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, 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.
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.
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., 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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