Nogueira, C., Meschini, M. C., Nesti, C., Garcia, P., et al. (2015). A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic Aciduria. Journal of Child Neurology, 30(2), 228 - 232.

Ferreira, M., Torraco, A., Rizza, T., Fattori, F., et al. (2011). Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1. Neurogenetics, 12(1), 9 - 17.

Stevanin, G., Santorelli, F. M., Azzedine, H., Coutinho, P., et al. (2007). Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Genetics, 39(3), 366 - 372.