Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias - Morais, S.; Raymond, L.; Mairey, M.; Coutinho, P.; Brandão, E.; Ribeiro, P.; Loureiro, J.L.; Sequeiros, J.; Brice, A.; Alonso, I.; Stevanin, G. (European Journal of Human Genetics, 2017)

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia - Seixas, A.I.; Loureiro, J.R.; Costa, C.; Ordóñez-Ugalde, A.; Marcelino, H.; Oliveira, C.L.; Loureiro, J.L.; Dhingra, A.; Brandão, E.; Cruz, V.T.; Timóteo, A.; Quintáns, B.; et al. (American Journal of Human Genetics, 2017)

Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey - Loureiro, J.L.; Brandão, E.; Ruano, L.; Brandão, A.F.; Lopes, A. M.; Thieleke-Matos, C.; Miller-Fleming, L.; Cruz, V.T.; Barbosa, M.; Silveira, I.; Stevanin, G.; Pinto-Basto, J.; et al. (JAMA Neurology, 2013)