Export 10 results:
Author Title [ Type(Asc)] Year
Filters: Author is Stevanin, G.  [Clear All Filters]
Journal Article
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.
Stevanin, G., Paternotte, C., Coutinho, P., Klebe, S., et al. (2007). A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology, 68(21), 1837 - 1840.
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.
Morais, S., Raymond, L., Mairey, M., Coutinho, P., et al. (2017). Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics, 25(11), 1217 - 1228.
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.
Loureiro, J. L., Brandão, E., Ruano, L., Brandão, A. F., et al. (2013). Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey. JAMA Neurology, 70(4), 481 - 487.
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., et al. (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology, 64(10), 1502 - 1508.
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.

Home | Site Map | Contacts | Credits | Privacy & Cookies | Intranet | Social Networks |


rua alfredo allen, 208, 4200-135 porto - portugal | tel +351 220 408 800 | email: info@i3s.up.pt | © copyright 2010 ibmc