Martin, E., Schüle, R., Smets, K., Rastetter, A., et al. (2013). Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. American Journal of Human Genetics, 92(2), 238 - 244.

Anheim, M., Monga, B., Fleury, M., Charles, P., et al. (2009). Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(10), 2688 - 2698.

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.