1. Repositório Aberto da Universidade do Porto

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Issue DateTitleAuthor(s)Type
2015Machado-Joseph disease in a Nigerian family: mutational origin and review of the literatureOgun, SA; Martins, S; Adebayo, PB; Dawodu, CO; Sequeiros, J; Finkel, MFArtigo em Revista Científica Internacional
2017A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.Seixas, AI; Loureiro, JR; Costa, C; Ordóñez-Ugalde, A; Marcelino, H; Oliveira, CL; Loureiro, JL; Dhingra, A; Brandão, E; Cruz, VT; Timóteo, A; Quintáns, B; Rouleau, GA; Rizzu, P; Carracedo, A; Bessa, J; Heutink, P; Sequeiros, J; Sobrido, MJ; Coutinho, P; Silveira, IArtigo em Revista Científica Internacional
2015Clonal evolution of CD8+ T cell responses against latent viruses: relationship among phenotype, localization, and functionRemmerswaal, EB; Klarenbeek, PL; Alves, NL; Doorenspleet, ME; Schaik, BD; Esveldt, RE; Idu, MM; Leeuwen, EM; der, Bom-Baylon, N; Kampen, AH; Koch, SD; Pircher, H; Bemelman, FJ; Ten, Brinke, A; Baas, F; Ten, Berge, IJ; Lier, RA; de, Vries, NArtigo em Revista Científica Internacional
2013A founder SDHB mutation in Portuguese paraganglioma patientsMartins, RG; Nunes, JB; Máximo, V; Soares, P; Peixoto, J; Catarino, T; Rito, T; Soares, P; Pereira, L; Sobrinho-Simões, M; Santos, AP; Couto, J; Henrique, R; Matos-Loureiro, J; Dias, P; Torres, I; Lima, JArtigo em Revista Científica Internacional
2011Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversityPereira, L; Soares, P; Radivojac, P; Li, B; Samuels, DCArtigo em Revista Científica Internacional
2006Islands inside an island: reproductive isolates on Jerba IslandLoueslati, BY; Cherni, L; Enaafaa, H; Khodjet el Khil, H; Pereira, L; Amorim, A; Ben Ayed, F; El Gaaied, AArtigo em Revista Científica Internacional
2014Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelinationSilva, TF; Eira, J; Lopes, AT; Malheiro, AR; Sousa, V; Luoma, A; Avila, RL; Wanders, RJ; Just, WW; Kirschner, DA; Sousa, MM; Brites, PArtigo em Revista Científica Internacional
2014Dysregulation of T cell receptor N-glycosylation: A molecular mechanism involved in ulcerative colitisDias, A; Dourado, J; Lago, P; Cabral, J; Marcos-Pinto, R; Salgueiro, P; Almeida, CR; Carvalho, S; Fonseca, S; Lima, M; Vilanova, M; Dinis-Ribeiro, M; Reis, CA; Pinho, SSArtigo em Revista Científica Internacional
2016Resolving the ancestry of Austronesian-speaking populationsSoares, P; Trejaut, JA; Rito, T; Cavadas, B; Hill, C; Eng, KK; Mormina, M; Brandão, A; Fraser, RM; Wang, T-Y; Loo, J-H; Snell, C; Ko, T-M; Amorim, A; Pala, M; Macaulay, V; Bulbeck, D; Wilson, JF; Gusmão, L; Pereira, L; Oppenheimer, S; Lin, M; Richards, MBArtigo em Revista Científica Internacional
2017Caveolin-1-mediated internalization of the vitamin C transporter SVCT2 in microglia triggers an inflammatory phenotypePortugal, CC; Socodato, R; Canedo, T; Silva, CM; Martins, T; Coreixas, VS; Loiola, EC; Gess, B; Röhr, D; Santiago, AR; Young, P; Minshall, RD; Paes-de-Carvalho, R; Ambrósio, AF; Relvas, JBArtigo em Revista Científica Internacional

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