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.

Martins, S., Calafell, F., Wong, V. C. N., Sequeiros, J., & Amorim, A. (2006). A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European Journal of Human Genetics, 14(8), 932 - 940.