Maria Francisca Coutinho
14PUBLICATIONS
36CO-AUTHORS
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Publications (14)
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|Mar 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
|May 07, 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
|Feb 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
|Nov 27, 2024
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.Hugo David, Jlenia Monfregola, Isaura Ribeiro
|Mar 28, 2024
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.Sofia Carvalho, Juliana Inês Santos, Luciana Moreira
|Nov 25, 2023
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.Marisa Encarnação, Isaura Ribeiro, Hugo David
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Frequent Collaborators
14 joint publications
Sandra Alves
10 joint publications
Marisa Encarnação
7 joint publications
Mariana Gonçalves
5 joint publications
Hugo David
4 joint publications
Maria João Prata
3 joint publications
Paulo Gaspar
3 joint publications
Maria Teresa Cardoso
3 joint publications
Ana Joana Duarte
2 joint publications
Hugo Rocha
2 joint publications
Isaura Ribeiro
