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Author Title [ Type(Desc)] Year
Filters: Author is Jardim, L.B.  [Clear All Filters]
Journal Article
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).
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.
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., et al. (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology, 64(10), 1502 - 1508.
Saute, J. A. M., Donis, K. C., Serrano-Munuera, C., Genis, D., et al. (2012). Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials. Cerebellum, 11(2), 488 - 504.
Martins, S., Coutinho, P., Silveira, I., Giunti, P., et al. (2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(4), 439 - 446.
Ramos, E. M., Martins, S., Alonso, I., Emmel, V. E., et al. (2010). Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 524 - 531.
Cecchin, C. R., Pires, A. P., Rieder, C. R., Monte, T. L., et al. (2006). Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. Community Genetics, 10(1), 19 - 26.
Emmel, V. E., Alonso, I., Jardim, L. B., Saraiva-Pereira, M. L., & Sequeiros, J. (2011). Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?. Clinical Genetics, 79(1), 100 - 102.
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.
Prestes, P. R., Saraiva-Pereira, M. L., Silveira, I., Sequeiros, J., & Jardim, L. B. (2008). Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population. Annals of Human Genetics, 72(1), 57 - 64.
Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., et al. (2006). Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology, 66(10), 1602 - 1604.
Sequeiros, J., Santos, C., & Jardim, L. B. (2009). Response to Tumas et al. Clinical Genetics, 75(2), 208.
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.
Gheno, T. C., Furtado, G. V., Saute, J. A. M., Donis, K. C., et al. (2017). Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil. European Journal of Neurology, 24(7), 892 - e36.
Trott, A., Jardim, L. B., Ludwig, H. T., Saute, J. A. M., et al. (2006). Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]. Clinical Genetics, 70(2), 173 - 176.

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