1. Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE

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Issue DateTitleAuthor(s)TypeAccess Type
2015Cerebrospinal Fluid Synaptic Proteins as Useful Biomarkers in Tyrosine Hydroxylase DeficiencyOrtez, C; Duarte, S; Ormazábal, A; Serrano, M; Pérez, A; Pons, R; Pineda, M; Yapici, Z; Fernández-Álvarez, E; Domingo-Jiménez, R; De Castro, P; Artuch, R; García-Cazorla, AarticleopenAccess
2014Importância das Alterações Cutâneas no Diagnóstico de Doenças NeurológicasMateus, AM; Silva, R; Conceição, C; Vieira, JParticleopenAccess
2012Defeitos do Tubo Neural e Medula Ancorada na Criança e Adolescente. Um Olhar Neurológico…Calado, E; Marreiros, H; Loff, CotheropenAccess
2012Infecção a Enterovírus 71... Ameaça de Saúde Pública EmergenteVenâncio, P; Casimiro, A; Oliveira, M; Valente, R; Brito, MJ; Silva, R; Conceição, C; Ventura, LconferenceObjectopenAccess
2012Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young ChildSobreira, I; Sousa, C; Raposo, A; Soares, MR; Soudo, AP; Dias, AIarticleopenAccess
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
May-2014Autism Spectrum Disorder Secondary to Enterovirus EncephalitisMarques, F; Brito, MJ; Conde, M; Pinto, M; Moreira, AarticleopenAccess
2011Síndrome de Guillain-Barré em Idade Pediátrica. Protocolo de ActuaçãoSampaio, MJ; Figueiroa, S; Temudo, T; Gomes, S; Janeiro, P; Silva, RarticleopenAccess

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