Showing 1 - 5 results of 5 for search 'Juliana Inês Santos', query time: 0.03s Refine Results
  1. 1
    Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders

    Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders by Maria Francisca Coutinho, Juliana Inês Santos, Liliana Matos, Sandra Alves

    Published 2016-11-01
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  2. 2
    Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

    Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example by Juliana Inês Santos, Mariana Gonçalves, Liliana Matos, Luciana Moreira, Sofia Carvalho, Maria João Prata, Maria Francisca Coutinho, Sandra Alves

    Published 2022-04-01
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  3. 3
    Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

    Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses by Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Mariana Gonçalves, Hugo David, Liliana Matos, Marisa Encarnação, Sandra Alves, Maria Francisca Coutinho

    Published 2023-04-01
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  4. 4
    Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

    Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity by Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, Lisbeth Silva, Diogo Ribeiro, Juliana Inês Santos, Maria João Prata, Laura Vilarinho, Sandra Alves

    Published 2020-01-01
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  5. 5
    NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

    NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient by Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves

    Published 2020-11-01
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