Marisa Alexandra Rego da Encarnação
AuthID: R-004-TQA
1
TITLE: Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos; Esmeralda Martins; Maria João Prata ; Luís Pereira de Almeida ; Sandra Alves; ...More
PUBLISHED: 2024, SOURCE: International Journal of Molecular Sciences, VOLUME: 25, ISSUE: 6
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos; Esmeralda Martins; Maria João Prata ; Luís Pereira de Almeida ; Sandra Alves; ...More
PUBLISHED: 2024, SOURCE: International Journal of Molecular Sciences, VOLUME: 25, ISSUE: 6
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TITLE: Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos; Esmeralda Martins; Maria João Prata ; Luís Pereira de Almeida; Sandra Alves; ...More
PUBLISHED: 2024
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha; Marisa Encarnação; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos; Esmeralda Martins; Maria João Prata ; Luís Pereira de Almeida; Sandra Alves; ...More
PUBLISHED: 2024
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TITLE: Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA
AUTHORS: Hammerschmidt, Tatiane Grazieli; Encarnacao, Marisa; Faverzani, Jessica Lamberty; Lopes, Franciele de Fatima; de Oliveira, Fabiano Poswar; de Sousa, Carolina Fischinger Moura; Ribeiro, Isaura; Alves, Sandra; Giugliani, Roberto; Vargas, Carmen Regla;
PUBLISHED: 2023, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 735
AUTHORS: Hammerschmidt, Tatiane Grazieli; Encarnacao, Marisa; Faverzani, Jessica Lamberty; Lopes, Franciele de Fatima; de Oliveira, Fabiano Poswar; de Sousa, Carolina Fischinger Moura; Ribeiro, Isaura; Alves, Sandra; Giugliani, Roberto; Vargas, Carmen Regla;
PUBLISHED: 2023, SOURCE: ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, VOLUME: 735
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TITLE: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step Towards Understanding and Treating Mucopolysaccharidoses
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho;
PUBLISHED: 2023
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho;
PUBLISHED: 2023
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TITLE: Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho;
PUBLISHED: 2023, SOURCE: Biomedicines, VOLUME: 11, ISSUE: 4
AUTHORS: Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho;
PUBLISHED: 2023, SOURCE: Biomedicines, VOLUME: 11, ISSUE: 4
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TITLE: MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C
AUTHORS: Marisa Encarnação; Hugo David; Maria Francisca Coutinho; Luciana Moreira; Sandra Alves;
PUBLISHED: 2023, SOURCE: Biomedicines, VOLUME: 11, ISSUE: 10
AUTHORS: Marisa Encarnação; Hugo David; Maria Francisca Coutinho; Luciana Moreira; Sandra Alves;
PUBLISHED: 2023, SOURCE: Biomedicines, VOLUME: 11, ISSUE: 10
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TITLE: Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
AUTHORS: Marisa Encarnação; Isaura Ribeiro ; Hugo David; Maria Francisca Coutinho; Dulce Quelhas ; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
AUTHORS: Marisa Encarnação; Isaura Ribeiro ; Hugo David; Maria Francisca Coutinho; Dulce Quelhas ; Sandra Alves;
PUBLISHED: 2023, SOURCE: Genes, VOLUME: 14, ISSUE: 11
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TITLE: Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI-Indirect Proof of Principle on Its Pathogenicity Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
AUTHORS: Coutinho, MF; Encarnacao, M; Matos, L; Silva, L; Ribeiro, D; Santos, JI; Prata, MJ ; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: DIAGNOSTICS, VOLUME: 10, ISSUE: 2
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TITLE: NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
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TITLE: Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants Full Text
AUTHORS: Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; Esmeralda Martins ; Maria Teresa Cardoso ; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2020, SOURCE: International Journal of Molecular Sciences, VOLUME: 21, ISSUE: 17
AUTHORS: Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; Esmeralda Martins ; Maria Teresa Cardoso ; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2020, SOURCE: International Journal of Molecular Sciences, VOLUME: 21, ISSUE: 17
