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Author Title [ Type(Asc)] Year
Filters: Author is Loureiro, J.L.  [Clear All Filters]
Journal Article
Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez-Ugalde, A., et al. (2017). A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics, 101(1), 87 - 103.
Loureiro, J. L., Miller-Fleming, L., Thieleke-Matos, C., Magalhães, P., et al. (2009). Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurologica Scandinavica, 119(2), 113 - 118.
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.
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.
Conceiço Pereira, M., Loureiro, J. L., Pinto-Basto, J., Brando, E., et al. (2012). Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations. Genetics in Medicine, 14(1), 143 - 151.
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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