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Showing results 1 to 17 of 17
Issue DateTitleAuthor(s)TypeAccess Type
1-Jun-2017Corino de Andrade disease: mechanisms and impact on reproductionLopes, R.; Coelho, T.; Barros, A.; Sousa, M.articleopenAccess
2015Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose studySuhr, O.; Coelho, T.; Buades, J.; Pouget, J.; Conceicao, I.; Berk, J.; Schmidt, H.; Waddington-Cruz, M.; Campistol, J.; Bettencourt, B.; Vaishnaw, A.; Gollob, J.; Adams, D.articleopenAccess
3-Oct-2017Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin GeneGonçalves, A.; Oliveira, J.; Coelho, T.; Taipa, R.; Melo-Pires, M.; Sousa, M.; Santos, R.articleopenAccess
Jun-2007Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant geneMUNAR‐QUÉS, M.; MASJUAN, J.; COELHO, T; MOREIRA, P.; VIADER‐FARRÉ, C.; SARAIVA, M.J.articleopenAccess
2017Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onsetSantos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A.articleopenAccess
Sep-2007Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.MARINI, C.; MEI, D.; TEMUDO, T.; FERRARI, A.; BUTI, D.; DRAVET, C.; DIAS, A.; MOREIRA, A.; CALADO, E.; SERI, S.; NEVILLE, B.; NARBONA, J.; REID, E.; MICHELUCCI, R.; SICCA, F.; CROSS, H.; GUERRINI, R.articleopenAccess
2013Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathyCoelho, T.; Maia, L.; Martins-Silva, A.; Cruz, M.; Planté-Bordeneuve, V.; Suhr, O.; Conceição, I.; Schmidt, H.; Trigo, P.; Kelly, J.; Labaudinière, R.; Chan, J.; Packman, J.; Grogan, D.articleopenAccess
Jun-2016Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin AmyloidosisCoelho, T.; Merlini, G.; Bulawa, C.; Fleming, J.; Judge, D.; Kelly, J.; Maurer, M.; Planté-Bordeneuve, V.; Labaudinière, R.; Mundayat, R.; Riley, S.; Lombardo, I.; Huertas, P.articleopenAccess
15-Jul-2008A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndromeBalreira, A.; Gaspar, P.; Caiola, D.; Chaves, J.; Beirão, I.; Lima, J.; Azevedo, J.; Miranda, M.articleopenAccess
2014Optimism on quality of life in Portuguese chronic patients: moderator/mediator?Vilhena, E.; Pais-Ribeiro, J.; Silva, I.; Pedro, L.; Meneses, R.; Cardoso, H.; Martins-Silva, A.; Mendonça, D.articleopenAccess
2016Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific SignaturesKurian, S.; Novais, M.; Whisenant, T.; Gelbart, T.; Buxbaum, J.; Kelly, J.; Coelho, T.; Salomon, D.articleopenAccess
2014Prevalence of use of preimplantation genetic diagnosis in Unidade Clínica de Paramiloidose from Centro Hospitalar do PortoValdrez, K.; Alves, E.; Coelho, T.; Silva, S.articleopenAccess
2014Psychosocial factors as predictors of quality of life in chronic Portuguese patientsVilhena, E.; Pais-Ribeiro, J.; Silva, I.; Pedro, E.; Meneses, R.; Cardoso, H.; Martins-Silva, A.; Mendonça, D.articleopenAccess
1-Nov-2014The efficacy and safety of natalizumab for the treatment of multiple sclerosis in Portugal: a retrospective studySousa, L.; de Sa, J.; Sa, M.; Cerqueira, J.; Martins-Silva, A.articleopenAccess
2017Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathyAdams, D.; Suhr, O.; Dyck, P.; Litchy, W.; Leahy, R.; Chen, J.; Gollob, J.; Coelho, T.articleopenAccess
16-Jan-2014Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patientsMartins-da-Silva, António; Lopes, João; Ramalheira, João; Carvalho, Cláudia; Cunha, Daniela; Costa, Paulo P; Silva, M BertaarticleopenAccess
2014Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese PatientSeca, M.; Ferreira, N.; Coelho, T.articleopenAccess