Sandra Alves

16PUBLICATIONS

55CO-AUTHORS

Medical biochemistry - lipidsNeurology and neuromuscular diseasesAutoimmunityMedical molecular engineering of nucleic acids and proteinsCellular nervous system

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Publications (16)

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|Jun 18, 2026

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.

|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

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Frequent Collaborators

14 joint publications

Maria Francisca Coutinho

10 joint publications

Marisa Encarnação

Mariana Gonçalves

Hugo David

Maria João Prata

Ana Joana Duarte

Maria Teresa Cardoso

Paulo Gaspar

Hugo Rocha

Isaura Ribeiro

Frequent Collaborators

14 joint publications

Maria Francisca Coutinho

10 joint publications

Marisa Encarnação

7 joint publications

Mariana Gonçalves

5 joint publications

Hugo David