1. Repositório Científico do Centro Hospitalar do Porto

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Issue DateTitleAuthor(s)TypeAccess Type
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
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
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
1-Jun-2017Corino de Andrade disease: mechanisms and impact on reproductionLopes, R.; Coelho, T.; Barros, A.; Sousa, M.articleopenAccess

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