DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases - Bettencourt, C.; Hensman-Moss, D.; Flower, M.; Wiethoff, S.; Brice, A.; Goizet, C.; Stevanin, G.; Koutsis, G.; Karadima, G.; Panas, M.; Yescas-Gómez, P.; García-Velázquez, L.E.; et al. (Annals of Neurology, 2016)

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia - Esteves, T.; Durr, A.; Mundwiller, E.; Loureiro, J.L.; Boutry, M.; Gonzalez, M. A.; Gauthier, J.; El-Hachimi, K.H.; Depienne, C.; Muriel, M.-P.; Acosta Lebrigio, R.F.; Gaussen, M.; et al. (American Journal of Human Genetics, 2014)

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)

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia - Martin, E.; Schüle, R.; Smets, K.; Rastetter, A.; Boukhris, A.; Loureiro, J.L.; Gonzalez, M. A.; Mundwiller, E.; Deconinck, T.; Wessner, M.; Jornea, L.; Oteyza, A. C.; 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)