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Author Title [ Type(Asc)] Year
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Journal Article
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.
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.
Esteves, T., Durr, A., Mundwiller, E., Loureiro, J. L., et al. (2014). Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics, 94(2), 268 - 277.
Bettencourt, C., Hensman-Moss, D., Flower, M., Wiethoff, S., et al. (2016). DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Annals of Neurology, 79(6), 983 - 990.
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.
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.

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