Percorrer por autor Coutinho, Maria Francisca

Índice: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
ou inserir as letras iniciais:  
Mostrar resultados 1-20 de 55.  próximo >
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
Dez-2008Caracterização genotípica de doentes portugueses com patologias associadas ao complexo multienzimático lisossomal: sialidose e galactosialidoseCoutinho, Maria FranciscamasterThesisrestrictedAccess
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
17-Jan-2017Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065Coutinho, Maria Francisca; Santos, Juliana Inês; Alves, SandraarticleopenAccess
Mar-2017Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage DiseasesCoutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; Ribeiro, Diogo; Alves, SandraconferenceObjectopenAccess
Set-2017Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTCMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
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
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
Mar-2017Genetically modulated substrate reduction therapyCoutinho, Maria Francisca; Santos, Juliana Inês; Matos, Liliana; Alves, SandraconferenceObjectopenAccess
Set-2017Genetically modulated Substrate Reduction Therapy for Mucopolysaccharidoses – in vitro studiesCoutinho, Maria Francisca; Santos, Juliana Inês; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
Nov-2017Genetically Modulated Substrate Reduction Therapy for Sanfilippo syndrome – proof of principleSantos, Juliana Inês; Coutinho, Maria Francisca; Alves, SandraconferenceObjectopenAccess
2012Glycosaminoglycan storage disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, SandraarticleopenAccess
5-Out-2011Glycosaminoglycan Storage Disorders: a reviewCoutinho, Maria Francisca; Lacerda, Lúcia; Alves, SandraarticleopenAccess
Fev-2017I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular DiagnosisSingh, Ankur; Prasad, Rajniti; Gupta, Aditya Kumar; Sharma, Anil; Alves, Sandra; Coutinho, Maria Francisca; Kapoor, Seema; Mishra, Om PrakasharticleembargoedAccess
8-Mai-2017Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in MucopolysaccharidosesCoutinho, Maria Francisca; Santos, Juliana Inês; Alves, SandraconferenceObjectopenAccess