Joaquin Arenas

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 96 publications

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Journal: Mitochondrion

Published: November 21, 2025

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Journal: Neurology. Genetics

Published: July 11, 2025

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Journal: Journal of inherited metabolic disease

Published: June 11, 2025

Cardiovascular involvement in glycogen storage diseases.

Cardiovascular involvement in glycogen storage diseases.

Journal: Nature reviews. Cardiology

Published: May 12, 2025

Aerobic capacity and muscle proteome: Insights from a mouse model.

Aerobic capacity and muscle proteome: Insights from a mouse model.

Journal: Experimental physiology

Published: September 13, 2024

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Journal: Molecular genetics and metabolism

Published: August 23, 2024

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

Journal: International journal of molecular sciences

Published: May 05, 2024

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Journal: Neurology. Genetics

Published: December 04, 2023

Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene.

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

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.

Journal: Neuroradiology

Published: July 12, 2023

Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse.

Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse.

Journal: International journal of molecular sciences

Published: May 21, 2023

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

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

Showing 1-12 of 96

Last Updated: 09/26/2026