Renaud, M., Tranchant, C., Martin, J. V. T., Mochel, F., et al. (2017). A recessive ataxia diagnosis algorithm for the next generation sequencing era. Annals of Neurology, 82(6), 892 - 899.

Boukhris, A., Schule, R., Loureiro, J. L., Lourenço, C. M., et al. (2013). Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. American Journal of Human Genetics, 93(1), 118 - 123.