Lourdes Ruiz Desviat

13PUBLICATIONS
22CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Pacific Peoples diet and nutritionInfant and child healthGene and molecular therapyNeonatology
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Publications (13)

|Nov 21, 2025
Oligonucleotides targeting the 3' splice site downstream of a microexon as an innovative therapy for autism.

Ainhoa Martinez-Pizarro, Sara Picó, Mar Alvárez

|Apr 30, 2025
Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes.

Anabel Cámara-Checa, Mar Álvarez, Josu Rapún

|Mar 05, 2025
Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research.

Emilio M García-Tenorio, Mar Álvarez, Mónica Gallego-Bonhomme

|Oct 25, 2024
Exploring RNA therapeutics for urea cycle disorders.

Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R Desviat

|Apr 09, 2024
Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria.

Ainhoa Martínez-Pizarro, Mar Álvarez, Maja Dembic

|Mar 23, 2024
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez

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Frequent Collaborators

5 joint publications

Eva Richard

2 joint publications

Belén Pérez

2 joint publications

Brage S Andresen

2 joint publications

Mar Álvarez