Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia - Boukhris, A.; Schule, R.; Loureiro, J.L.; Lourenço, C.M.; Mundwiller, E.; Gonzalez, M. A.; Charles, P.; Gauthier, J.; Rekik, I.; Acosta Lebrigio, R.F.; Gaussen, M.; Speziani, F.; et al. (American Journal of Human Genetics, 2013)

Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients - Anheim, M.; Monga, B.; Fleury, M.; Charles, P.; Barbot, C.; Salih, M.; Delaunoy, J.P.; Fritsch, M.; Arning, L.; Synofzik, M.; Schöls, L.; Sequeiros, J.; et al. (Brain, 2009)

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum - Stevanin, G.; Santorelli, F.M.; Azzedine, H.; Coutinho, P.; Chomilier, J.; Denora, P.S.; Martin, E.; Ouvrard-Hernandez, A.-M.; Tessa, A.; Bouslam, N.; Lossos, A.; Charles, P.; et al. (Nature Genetics, 2007)