Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
Sep-2011	New splicing mutation in the cystatin B gene	Amaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, João
Jun-2001	Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations	Ribeiro, Isaura; Marcao, Ana; Amaral, Olga; Sá Miranda, M.C,; Vanier, M.T,; Millat, Gilles
Mar-2012	Os nossos micromundos	Amaral, Olga
23-Nov-2012	Reversing the effect of the IDUA GENE W402X mutation?	Ribeiro, Diogo; Amaral, Olga
21-Mar-2013	Study of cellular localization of Cystatin B in Unverricht-Lundborg disease	Duarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, Olga
1996	Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the Portuguese	Amaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C.
Oct-2013	Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene	9th Annual Meeting of the Oligonucleotide Therapeutics Society; Matos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, Sandra
Dec-2011	Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene	Pinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, Olga
Aug-2011	Unverricht–lundborg disease: report of a new mutation	Freitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.

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