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Moreira, M. - C., Klur, S., Watanabe, M., Németh, A. H., et al. (2004). Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics, 36(3), 225 - 227.
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.
Martindale, J. E., Seneca, S., Wieczorek, S., & Sequeiros, J. (2012). Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations. Human Mutation, 33(9), 1359 - 1365.
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.
Temudo, T., Oliveira, P., Santos, M., Dias, K., et al. (2007). Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations. Neurology, 68(15), 1183 - 1187.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2015). Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2016). Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling, 25(1), 79 - 89.

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