Percorrer por assunto Lysosomal Storage Disorders

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DataTítuloAutor(es)TipoAcesso
19-Mar-2015Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disordersMatos, Liliana; Alves, SandraconferenceObjectrestrictedAccess
Nov-2017Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis IIMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
22-Mar-2017Development of antisense U1 snRNA-mediated therapeutic strategies to modulate splicing in lysosomal storage disordersMatos, LilianalectureopenAccess
Dez-2015Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R.; Perez, Belén; Alves, SandraarticleopenAccess
Out-2017Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid BreakdownAerts, Johannes M.; Ferraz, Maria J.; Mirzaian, Mina; Gaspar, Paulo; Oussoren, Saskia V.; Wisse, Patrick; Kuo, Chi-Lin; Lelieveld, Lindsey T.; Kytidou, Kassiani; Hazeu, Marc D.; Boer, Daphne E.C.; Meijer, Rianne; van der Lienden, Martijn J.C.; Chao, Daniela H.M.; Gabriel, Tanit L.; Aten, Jan; Overkleeft, Herman S.; van Eijk, Marco; Boot, Rolf G.; Marques, André R.A.articleembargoedAccess
2007Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygousCherif, W.; Ben Turkia, H.; Tebib, N.; Amaral, O.; Ben Rhouma, F.; Abdelmoula MS, M.S.; Azzouz, H.; Caillaud, C.; Sà Miranda, M.C.; Abdelhak, S.; Ben Dridi, M.F.articlerestrictedAccess
8-Mai-2017Splicing therapeutics for patients affected by lysosomal storage disordersMatos, Liliana; Gonçalves, Vânia; Canals, Isaac; Jordan, Peter; Grinberg, Daniel; Pérez, Belén; Prata, Maria João; Alves, SandraconferenceObjectopenAccess
Set-2017Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutationMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess