Ines Consuegra-Garcia
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
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Found 15 publications
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene.
Journal: Biomedicines
Published: July 27, 2023
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Journal: International journal of molecular sciences
Published: November 09, 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Journal: International journal of molecular sciences
Published: October 04, 2022
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
Journal: International journal of molecular sciences
Published: December 28, 2021
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
Journal: International journal of molecular sciences
Published: April 06, 2021
TFAM-deficient mouse skin fibroblasts - an ex vivo model of mitochondrial dysfunction.
Journal: Disease models & mechanisms
Published: March 04, 2021
Tumor-Stromal Interactions in a Co-Culture Model of Human Pancreatic Adenocarcinoma Cells and Fibroblasts and Their Connection with Tumor Spread.
Journal: Biomedicines
Published: March 01, 2021
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Journal: Human mutation
Published: May 03, 2018
Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.
Journal: Medicine and science in sports and exercise
Published: April 01, 2016
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 16, 2015
Last Updated: 09/26/2026