Sequeiros, J., Ramos, E. M., Cerqueira, J., Costa, M. C., et al. (2010). Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population. Clinical Genetics, 78(4), 381 - 387.

MacIel, P., Cruz, V. T., Constante, M., Iniesta, I., et al. (2005). Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology, 65(4), 603 - 605.

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.