Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes - Temudo, T.; Santos, M.; Ramos, E.; Dias, K.; Vieira, J.P.; Moreira, A.; Calado, E.; Carrilho, I.; Oliveira, G.; Levy, A.; Barbot, C.; Fonseca, M.; et al. (Brain and Development, 2011)

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients - Oliveira, J.; Santos, R.; Soares-Silva, I.; Jorge, P.; Vieira, E.; Oliveira, M.E.; Moreira, A.; Coelho, T.; Ferreira, J.C.; Fonseca, M.J.; Barbosa, C.; Prats, I.; et al. (Clinical Genetics, 2008)

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type - Temudo, T.; Ramos, E.; Dias, K.; Barbot, C.; Vieira, J.P.; Moreira, A.; Calado, E.; Carrilho, I.; Oliveira, G.; Levy, A.; Fonseca, M.; Cabral, A.; et al. (Movement Disorders, 2008)

Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations - Temudo, T.; Oliveira, P.; Santos, M.; Dias, K.; Vieira, J.; Moreira, A.; Calado, E.; Carrilho, I.; Oliveira, G.; Levy, A.; Barbot, C.; Fonseca, M.; et al. (Neurology, 2007)