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Issue DateTitleAuthor(s)TypeAccess Type
2014Importância das Alterações Cutâneas no Diagnóstico de Doenças NeurológicasMateus, AM; Silva, R; Conceição, C; Vieira, JParticleopenAccess
2006Neurocisticercose em Idade PediátricaFerreira, M; Brito, MJ; Vieira, JP; Salgueiro, AB; Machado, MCarticleopenAccess
2014Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotypes Associated with Upregulated Type I Interferon SignalingRice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, M; Chouchane, M; Cimaz, R; Collins, AM; Cordeiro, N; Dale, R; Davidson, J; De Waele, L; Desguerre, I; Faivre, L; Fazzi, E; Isidor, B; Lagae, L; Latchman, A; Lebon, P; Li, C; Livingston, J; Lourenço, C; Mancardi, MM; Masurel-Paulet, A; McInnes, I; Menezes, M; Mignot, C; O’Sullivan, J; Orcesi, S; Picco, P; Riva, E; Robinson, R; Rodriguez, D; Salvatici, E; Scott, C; Szybowska, M; Tolmie, J; Vanderver, A; Vanhulle, C; Vieira, JP; Webb, K; Whitney, R; Williams, S; Wolfe, L; M Zuberi, S; Hur, S; Crow, YarticleopenAccess
2015Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leading to Epigenetic Changes and Overexpression of the MECP2 GeneVieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, ParticleopenAccess
2011Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine PhenotypesTemudo, T; Santos, M; Ramos, E; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G; Levy, A; Barbot, C; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M; Fernandes, A; Epplen, JT; Sequeiros, J; Maciel, ParticleopenAccess
2008Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental RetardationSantos, M; Yan, J; Temudo, T; Oliveira, G; Vieira, JP; Fen, J; Sommer, S; Maciel, ParticleopenAccess
2006Epilepsy and Deletions at Chromosome 2q24Pereira, S; Vieira, JP; Cau, P; Genton, P; Szepetowski, ParticleopenAccess
2009Evaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of TreatmentTemudo, T; Rios, M; Prior, C; Carrilho, I; Santos, M; Maciel, P; Sequeiros, J; Fonseca, M; Monteiro, J; Cabral, P; Vieira, JP; Ormazabal, A; Artuch, RarticleopenAccess
2006Short-Lasting Headaches in ChildrenVieira, JP; Salgueiro, AB; Alfaro, MarticleopenAccess
Sep-2006The BOLD Effect of Interictal Spike Activity in Childhood Occipital Lobe EpilepsyLeal, A; Dias, AI; Vieira, JP; Secca, M; Jordão, CarticleopenAccess