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Issue DateTitleAuthor(s)
21-Mar-2013Study of cellular localization of Cystatin B in Unverricht-Lundborg diseaseDuarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, Olga
1996Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the PortugueseAmaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C.
Oct-2013Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene9th Annual Meeting of the Oligonucleotide Therapeutics Society; Matos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, Sandra
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, Olga
Aug-2011Unverricht–lundborg disease: report of a new mutationFreitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.
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