1. Repositório Aberto da Universidade do Porto

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Issue DateTitleAuthor(s)Type
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
2005MtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased riskGoios, A; Nogueira, C; Pereira, C; Vilarinho, L; Amorim, A; Pereira, LArtigo em Revista Científica Internacional
2013Familial Aggregation of Cluster HeadacheCruz, S; Lemos, C; Monteiro, JMArtigo em Revista Científica Internacional
2013Frequency of TERT promoter mutations in human cancersVinagre, J; Almeida, A; Pópulo, H; Batista, R; Lyra, J; Pinto, V; Coelho, R; Celestino, R; Prazeres, H; Lima, L; Melo, M; Rocha, AG; Preto, A; Castro, P; Castro, L; Pardal, F; Lopes, JM; Santos, LL; Reis, RM; Cameselle-Teijeiro, JM; Sobrinho-Simões, M; Lima, J; Máximo, V; Soares, PArtigo em Revista Científica Internacional
2018FoxM1 repression during human aging leads to mitotic decline and aneuploidy-driven full senescenceMacedo, JC; Vaz, S; Bakker, B; Ribeiro, R; Bakker, P; Escandell, J; Ferreira, M; Medema, R; Foijer, F; Logarinho, EArtigo em Revista Científica Internacional
2019Lipid antigen presentation by CD1b and CD1d in lysosomal storage disease patientsPereira, CS; Perez-Cabezas, B; Ribeiro, H; Maia, M; Cardoso, M; Dias, AF; Azevedo, O; Ferreira, M; Garcia, P; Rodrigues, E; Castro-Chaves, P; Martins, E; Aguiar, P; Pineda, M; Amraoui, Y; Fecarotta, S; Leão-Teles, E; Deng, S; Savage, P; Macedo, MFArtigo em Revista Científica Internacional
2019High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadismGonçalves, CI; Patriarca, FM; Aragüés, JM; Carvalho, D; Fonseca, F; Martins, S; Marques, O; Pereira, BD; Martinez-de-Oliveira, J; Lemos, MCArtigo em Revista Científica Internacional

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