1. Ruano L, Melo C, Silva MC, Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42(3):174–183
2. Lima M, Bruges-Armas J, Bettencourt C (2012) Non-mendelian genetic aspects in spinocerebellar ataxias (scas): the case of Machado-Joseph disease (MJD). Spinocerebellar Ataxia, InTech
3. Coutinho P (1992) Doença de Machado-Joseph: Tentativa de definição. PhD dissertation, Universidade do Porto
4. Lima M, Mayer F, Coutinho P, Abade A (1997) Prevalence, geographic distribution, and genealogical investigation of Machado-Joseph disease in the Azores (Portugal). Hum Biol 69(3):383–391
5. Lima M, Mayer FM, Coutinho P, Abade A (1998) Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal). Hum Biol Int Rec Res 70(6):1011–1023