Browsing by Author Duarte, Ana Joana

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Issue DateTitleAuthor(s)TypeAccess Type
Sep-2011Allelic frequency of CHIT1 variants in the Portuguese populationDuarte, Ana Joana; Ribeiro, Diogo; Amaral, OlgaconferenceObjectrestrictedAccess
19-Dec-2014Cellular characterization of normal and mutant cystatin BDuarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, OlgaconferenceObjectrestrictedAccess
Jul-2015Characterization of a rare Unverricht-Lundborg disease mutationDuarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, OlgaarticleembargoedAccess
12-May-2016Doenças lisossomais de sobrecarga em Portugal: 10 anos de experiência em estudos moleculares no INSA (2006-2016)Coutinho, Maria Francisca; Duarte, Ana Joana; Matos, Liliana; Santos, Juliana Inês; Amaral, Olga; Alves, SandraarticleopenAccess
3-Apr-2013Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood SamplesRibeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; Amaral, OlgaarticleopenAccess
24-Oct-2013Genetic variation in a gene involved in glycosphingolipid lipid biosynthesisAmaral, Olga; Duarte, Ana Joana; Pinto, Eugenia; Ribeiro, I.; Lopes, Lurdes; Ribeiro, DiogoconferenceObjectclosedAccess
Sep-2011New splicing mutation in the cystatin B geneAmaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, JoãoconferenceObjectrestrictedAccess
21-Mar-2013Study of cellular localization of Cystatin B in Unverricht-Lundborg diseaseDuarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, OlgaconferenceObjectrestrictedAccess
Oct-2013Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B geneMatos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, SandraconferenceObject 9th Annual Meeting of the Oligonucleotide Therapeutics SocietyopenAccess
Dec-2011Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B genePinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, OlgaarticlerestrictedAccess