Percorrer por autor Alves, Sandra

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DataTítuloAutor(es)TipoAcesso
Abr-2012Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta PatientCoutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Wibrand, F.; Lund, A.M.; Johansen, K.B.; Prata, Maria João; Alves, SandraarticleopenAccess
20-Out-2011Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patientCoutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Quental, Sofia; Flemming, W; Lund, AM; Johansen, KB; Prata, Maria João; Alves, SandraarticlerestrictedAccess
Set-2011Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient [Poster]Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Flemming, Wibrand; Lund, Allan M; Johansen, Klaus B; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
Set-2011Biochemical analysis of GNPTAB missense mutations associated with ML IIda Silva Santos, Liliana; Coutinho, Maria Francisca; Girisha, Katta Mohan; Lacerda, Lúcia; Tappino, Barbara; Stefano, Regis; Filocammo, Mirella; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
Set-2009Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type IICoutinho, Maria Francisca; Encarnação, Marisa; Gomes, Rui; Prata, Maria João; Bargal, Ruth; Filocammo, Mirella; RaasRothschild, A.; Tappino, Barbara; Alves, SandraconferenceObjectrestrictedAccess
Dez-2015Data in support of a functional 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.; Pérez, Belén; Alves, SandraarticleopenAccess
Out-2015Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disordersAlves, Sandra; Pérez, Belén; Desviat, Lourdes; Matos, LilianaarticlerestrictedAccess
19-Mar-2015Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disordersMatos, Liliana; Alves, SandraconferenceObjectrestrictedAccess
12-Mai-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
Nov-2010Evidences of large deletions in patients with the Lysosomal Storage Diseases Mucolipidosis type II and III: experimental approaches for picking up both homozygous and heterozygous casesCoutinho, Maria Francisca; Encarnação, Marisa; Carvalho, Filipa; Lacerda, Lúcia; Willbrand, Flemming; Ribeiro, Helena; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
18-Ago-2015From rare to common and back again: 60 years of lysosomal dysfunctionCoutinho, Maria Francisca; Alves, SandraarticleembargoedAccess
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, SandraarticleembargoedAccess
12-Mar-2013Genética e cérebro na "fábrica de perguntas"Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, LilianaotheropenAccess
2012Glycosaminoglycan storage disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, SandraarticleopenAccess
5-Out-2011Glycosaminoglycan Storage Disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, SandraarticleopenAccess
1-Mar-2011Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patientsCoutinho, Maria Francisca; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Baptista, Estela; Ribeiro, Helena; Prata, Maria João; Alves, SandraarticlerestrictedAccess
19-Mar-2015Lysosome revisited – Connecting Rare and Common IllnessesCoutinho, Maria Francisca; Alves, SandraarticlerestrictedAccess
Dez-2011Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.Coutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
23-Dez-2011Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.Coutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
Set-2013Molecular analyses of genes involved in mannose 6-phosphate independent traffickingCoutinho, Maria Francisca; Lacerda, Lúcia; Pinto, Eugénia; Ribeiro, Helena; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess