Joaquı́n Arenas

Centre for Biomedical Network Research on Rare Diseases — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index12.3kcitations379works5.02yr avg
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Research Topics

Mitochondrial Function and Pathology(157), Metabolism and Genetic Disorders(132), Glycogen Storage Diseases and Myoclonus(91), ATP Synthase and ATPases Research(55), Genetics and Neurodevelopmental Disorders(41)

Publications379 total

Cardiovascular involvement in glycogen storage diseases
Nature Reviews Cardiology·2025
Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies
Molecular Genetics and Metabolism·2025· 9 citedOpen Access
Aerobic capacity and muscle proteome: Insights from a mouse model
Experimental Physiology·2024· 1 citedOpen Access
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
International Journal of Molecular Sciences·2024· 3 citedOpen Access
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Neurology Genetics·2024· 12 citedOpen Access
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
Neuroradiology·2023· 4 cited
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene
Biomedicines·2023· 2 citedOpen Access
Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
International Journal of Molecular Sciences·2023· 1 citedOpen Access
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
International Journal of Molecular Sciences·2023· 10 citedOpen Access
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Molecular Metabolism·2022· 10 citedOpen Access
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
International Journal of Molecular Sciences·2022· 8 citedOpen Access
High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome
European Journal of Neurology·2022· 12 cited
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Genes·2022· 8 citedOpen Access
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch
Cell Metabolism·2022· 88 cited
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
Neuromuscular Disorders·2022· 8 citedOpen Access
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
International Journal of Molecular Sciences·2022· 2 citedOpen Access
Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects
Antioxidants·2022· 1 citedOpen Access
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
Journal of Neurology·2022· 12 citedOpen Access
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
Genes·2021· 6 citedOpen Access
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
Journal of Clinical Medicine·2021· 10 citedOpen Access
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Frequent Co-authors

Miguel A. Martı́n(30), Yolanda Campos(15), Carlos Rubio-Terrés(13), Cristina Ugalde(9), Alejandro Lucía(7), Antoni L. Andreu(7), Pilar del Hoyo(6), María Morán(5), Gisela Nogales‐Gadea(5), Margarita Pérez(5), Félix Javier Jiménez‐Jiménez(5), Alberto Blázquez(5), Francisco J. Blanco(4), Inés García‐Consuegra(4), Ana Cabello(4), M Ortı́-Pareja(4), Teresa Gasalla(4), Julián Benito‐León(4), Rafael Garesse(3), Eduardo Ruiz‐Pesini(3)