Marisa Encarnação

10PUBLICATIONS
27CO-AUTHORS
Neurology and neuromuscular diseasesAutoimmunityMedical molecular engineering of nucleic acids and proteinsCellular nervous systemRegenerative medicine (incl. stem cells)
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Publications (10)

|Mar 28, 2026
ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 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

10 joint publications

Maria Francisca Coutinho

10 joint publications

Sandra Alves

5 joint publications

Hugo David

5 joint publications

Mariana Gonçalves