Browsing by Author Vilarinho, L.

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Showing results 10 to 22 of 22 < previous 
Issue DateTitleAuthor(s)TypeAccess Type
Feb-2012Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsMartins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.articleopenAccess
15-Oct-2013Mitochondria proteome profiling: a comparative analysis between gel- and gel-free approachesFerreira, R.; Rocha, H.; Almeida, V.; Padrão, A.L.; Santa, C.; Vilarinho, L.; Amado, F.; Vitorino, R.articleembargoedAccess
Nov-2010Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiencyUrreizti, R.; Moya-García, A. A.; Pino-Ángeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M.A.; Pérez-Dueñas, B.; Pineda, M.; González, V.; Artuch, R.; Baldellou, A.; Vilarinho, L.; Fowler, B.; Ribes, A.; Sánchez-Jiménez, F.; Grinberg, D.; Balcells, S.articlerestrictedAccess
2011Molecular investigation of pediatric portuguese patients with sensorineural hearing lossNogueira, C.; Coutinho, M.; Pereira, C.; Tessa, A.; Santorelli, F.M.; Vilarinho, L.articleopenAccess
2012Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in DrosophilaAlves, E.; Henriques, B.J.; Rogrigues, J.V.; Prudêncio, P.; Rocha, H.; Vilarinho, L.; Martinho, R.G.; Gomes, C.M.articlerestrictedAccess
Sep-2013Novel mutation in the mitochondrial transfer RNACys gene in a childAlmeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L.conferenceObjectopenAccess
20-Mar-2014A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic AciduriaNogueira, Célia; Meschini, M.C.; Nesti, C.; Garcia, P.; Diogo, L.; Valongo, C.; Costa, R.; Videira, A.; Vilarinho, L.; Santorelli, F.M.articleembargoedAccess
May-2013Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyNogueira, C.; Barros, J.; Sá, M.J.; Azevedo L, L.; Taipa, R.; Torraco, A.; Meschini, M.C.; Verrigni, D.; Nesti, C.; Rizza, T.; Teixeira, João Paulo; Carrozzo, R.; Pires, M.M.; Vilarinho, L.; Santorelli, F.M.articleembargoedAccess
2012Nuclear-Mitochondrial Intergenomic Communication DisordersAlmeida, L.S.; Nogueira, C.; Vilarinho, L.bookPartopenAccess
2011Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1Ferreira, M.; Torraco, A.; Rizza, T.; Fattori, F.; Meschini, M.C.; Castana, C.; Go, N.E.; Nargang, F.E.; Duarte, M.; Piemonte, F.; Dionisi-Vici, C.; Videira, A.; Vilarinho, L.; Santorelli, F.M.; Carrozzo, R.; Bertini, E.articlerestrictedAccess
2011Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutationsFerreira, M.; Evangelista, T.; Almeida, L.S.; Martins, J.; Macario, M.C.; Martins, E.; Moleirinho, A.; Azevedo, L.; Vilarinho, L.; Santorelli, F.M.articlerestrictedAccess
6-Jul-2013Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalVentura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.; Ramos, R.; Rocha, H.; Lopes, A.; Fonseca, H.; Gaspar, A.; Diogo, L.; Martins, E.; Leão-Teles, E.; Vilarinho, L.; Tavares de Almeida, I.articleembargoedAccess
15-Sep-2013Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patientsFerreira, F.; Esteves, S.; Almeida, L.S.; Gaspar, A.; da Costa CD, Janeiro P.; Bandeira, A.; Martins, E.S.; Teles, E.L.; Garcia, P.; Azevedo, L.; Vilarinho, L.articleembargoedAccess