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Biomedicines
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May 16, 2023
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, et al.
Diagnostics (Basel, Switzerland)
|
January 25, 2020
Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity
Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, et al.
International Journal of Molecular Sciences
|
September 5, 2020
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
Marisa Encarnação, Maria Francisca Coutinho, Lisbeth Silva, et al.
International Journal of Molecular Sciences
|
August 14, 2020
Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach
Maria Francisca Coutinho, Juliana Inês Santos, Liliana S Mendonça, et al.
JIMD Reports
|
February 23, 2013
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
Maria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, et al.
International Journal of Molecular Sciences
|
November 27, 2024
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease
Hugo David, Jlenia Monfregola, Isaura Ribeiro, et al.
Genes
|
March 28, 2026
ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the <i>NPC1</i> Gene
Beatriz Monteiro, Maria Inês Peixoto, Juan Darío Ortigoza-Escobar, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease
Maria Eduarda Moutinho, Mariana Gonçalves, Ana Joana Duarte, et al.
International Journal of Molecular Sciences
|
February 13, 2025
mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis
Juliana Inês Santos, Mariana Gonçalves, Matilde Barbosa Almeida, et al.
Molecular Genetics & Genomic Medicine
|
September 15, 2020
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Biomedicines
|
May 16, 2023
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses
Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, et al.
Diagnostics (Basel, Switzerland)
|
January 25, 2020
Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity
Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, et al.
International Journal of Molecular Sciences
|
September 5, 2020
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
Marisa Encarnação, Maria Francisca Coutinho, Lisbeth Silva, et al.
International Journal of Molecular Sciences
|
August 14, 2020
Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach
Maria Francisca Coutinho, Juliana Inês Santos, Liliana S Mendonça, et al.
JIMD Reports
|
February 23, 2013
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
Maria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, et al.
International Journal of Molecular Sciences
|
November 27, 2024
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease
Hugo David, Jlenia Monfregola, Isaura Ribeiro, et al.
Genes
|
March 28, 2026
ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the <i>NPC1</i> Gene
Beatriz Monteiro, Maria Inês Peixoto, Juan Darío Ortigoza-Escobar, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease
Maria Eduarda Moutinho, Mariana Gonçalves, Ana Joana Duarte, et al.
International Journal of Molecular Sciences
|
February 13, 2025
mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis
Juliana Inês Santos, Mariana Gonçalves, Matilde Barbosa Almeida, et al.
Molecular Genetics & Genomic Medicine
|
September 15, 2020
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, et al.
Page
of 4