Sandra F. Alves

Lisbon, 1300477, Portugal

Last Updated: 09/26/2026

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Found 52 publications

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

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

Journal: Orphanet journal of rare diseases
Published: March 11, 2026

The p.Ala1035Val variant in Niemann-Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect.

The p.Ala1035Val variant in Niemann-Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect.

Journal: Molecular genetics and metabolism
Published: January 29, 2026

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene.

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene.

Journal: Genes
Published: January 16, 2026

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Journal: International journal of molecular sciences
Published: January 27, 2025

mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

Journal: International journal of molecular sciences
Published: January 03, 2025

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.

Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.

Journal: International journal of molecular sciences
Published: October 10, 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.

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.

Journal: International journal of molecular sciences
Published: December 29, 2023

Very-early detection of atrial fibrillation after ablation evaluated by a wearable ECG-patch predicts late blanking period recurrence: Preliminary data from a prospective registry.

Very-early detection of atrial fibrillation after ablation evaluated by a wearable ECG-patch predicts late blanking period recurrence: Preliminary data from a prospective registry.

Journal: International journal of cardiology. Heart & vasculature
Published: December 10, 2023

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Journal: Genes
Published: September 29, 2023

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.

Journal: Biomedicines
Published: August 22, 2023

Development of Engineered-U1 snRNA Therapies: Current Status.

Development of Engineered-U1 snRNA Therapies: Current Status.

Journal: International journal of molecular sciences
Published: August 17, 2023

Leukocyte Imbalances in Mucopolysaccharidoses Patients.

Leukocyte Imbalances in Mucopolysaccharidoses Patients.

Journal: Biomedicines
Published: May 26, 2023
Showing 1-12 of 52

Last Updated: 09/26/2026