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Maria Francisca Coutinho

Showing results (11-20 of 33) with videos related to

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Biomedicines|October 28, 2023
MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type CMarisa Encarnação, Hugo David, Maria Francisca Coutinho, et al.
International Journal of Molecular Sciences|October 14, 2023
Development of Engineered-U1 snRNA Therapies: Current StatusMariana Gonçalves, Juliana Inês Santos, Maria Francisca Coutinho, et al.
Genes|November 25, 2023
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative TranscriptsMarisa Encarnação, Isaura Ribeiro, Hugo David, et al.
World Journal of Pediatrics : WJP|January 20, 2017
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutationsSouad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 7, 2016
Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/betaMaria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, et al.
Gene|April 2, 2014
Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationShagun Aggarwal, Maria Francisca Coutinho, Ashwin B Dalal, et al.
Life (Basel, Switzerland)|May 28, 2022
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses ExampleJuliana Inês Santos, Mariana Gonçalves, Liliana Matos, et al.
Human Gene Therapy|April 15, 2020
Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA LevelLiliana Matos, Regina Vilela, Melissa Rocha, et al.
Indian Journal of Pediatrics|October 28, 2016
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular DiagnosisAnkur Singh, Rajniti Prasad, Aditya Kumar Gupta, et al.
Human Mutation|December 31, 2013
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)Raffaella De Pace, Maria Francisca Coutinho, Friedrich Koch-Nolte, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Biomedicines|October 28, 2023
MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type CMarisa Encarnação, Hugo David, Maria Francisca Coutinho, et al.
International Journal of Molecular Sciences|October 14, 2023
Development of Engineered-U1 snRNA Therapies: Current StatusMariana Gonçalves, Juliana Inês Santos, Maria Francisca Coutinho, et al.
Genes|November 25, 2023
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative TranscriptsMarisa Encarnação, Isaura Ribeiro, Hugo David, et al.
World Journal of Pediatrics : WJP|January 20, 2017
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutationsSouad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 7, 2016
Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/betaMaria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, et al.
Gene|April 2, 2014
Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationShagun Aggarwal, Maria Francisca Coutinho, Ashwin B Dalal, et al.
Life (Basel, Switzerland)|May 28, 2022
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses ExampleJuliana Inês Santos, Mariana Gonçalves, Liliana Matos, et al.
Human Gene Therapy|April 15, 2020
Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA LevelLiliana Matos, Regina Vilela, Melissa Rocha, et al.
Indian Journal of Pediatrics|October 28, 2016
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular DiagnosisAnkur Singh, Rajniti Prasad, Aditya Kumar Gupta, et al.
Human Mutation|December 31, 2013
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)Raffaella De Pace, Maria Francisca Coutinho, Friedrich Koch-Nolte, et al.
Pageof 4