J. Arenas

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Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease

I. Ara, L. Alegre, A. Santalla, 2020, International journal of environmental research and public health.

Differential default mode network trajectories in asymptomatic individuals at risk for Alzheimer's disease

Michel Thiebaut de Schotten, O. Sporns, L. Schneider, 2019, Alzheimer's & Dementia.

SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells.

M. Zeviani, J. Arenas, Miguel Ángel Martín, 2021, Biochimica et biophysica acta. Bioenergetics.

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

J. Arenas, Miguel Ángel Martín, Dusanka Milenkovic, 2016, Cell reports.

Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes

F. Fontanesi, J. Arenas, Miguel Ángel Martín, 2020, The EMBO journal.

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

A. Santalla, A. Lucia, G. Nogales-Gadea, 2016, Medicine and science in sports and exercise.

Serum levels of β‐carotene, α‐carotene and vitamin A in patients with Alzheimer's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1999, European journal of neurology.

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

A. Santalla, A. Lucia, G. Nogales-Gadea, 2015, Human mutation.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

M. Castro‐Gago, J. Arenas, Miguel Ángel Martín, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2022, Journal of Neurology.

Mitochondrial activity is modulated by TNFα and IL-1β in normal human chondrocyte cells

B. Cillero-Pastor, J. Arenas, Miguel Ángel Martín, 2006 .

Mitochondrial respiratory activity is altered in osteoarthritic human articular chondrocytes.

M. D. de Andrés, J. Arenas, Miguel Ángel Martín, 2003, Arthritis and rheumatism.

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics‐based analysis in the McArdle mouse model

A. Lucia, J. Díez-Bermejo, G. Nogales-Gadea, 2018, Journal of Physiology.

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

J. Arenas, Miguel Ángel Martín, Y. Campos, 1996, Muscle & nerve.

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers

S. Dimauro, M. Zeviani, F. Santorelli, 1999, Neurology.

Renal pathology in children with mitochondrial diseases

J. Arenas, Miguel Ángel Martín, M. García-Silva, 2005, Pediatric Nephrology.

Exercise Benefits in Pulmonary Hypertension.

A. Lucia, J. Arenas, J. López, 2019, Journal of the American College of Cardiology.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

L. Pérez-Jurado, B. Merinero, M. Martínez-Pardo, 2010, Mitochondrion.

Mitochondrial complex I plays an essential role in human respirasome assembly.

F. Fontanesi, J. Arenas, Miguel Ángel Martín, 2012, Cell metabolism.

Blood-based systems biology biomarkers for next-generation clinical trials in Alzheimer’s disease 

H. Hampel, J. Woodcock, S. Lista, 2019, Dialogues in clinical neuroscience.

Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders

J. Arenas, Miguel Ángel Martín, D. Lora, 2021, International journal of molecular sciences.

One-year follow-up in a child with McArdle disease: exercise is medicine.

Margarita Pérez, A. Lucia, C. Foster, 2008, Pediatric neurology.

Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure.

J. Arenas, M. Gomez, Y. Campos, 2000, Biochimica et biophysica acta.

Carnitine in muscle, serum, and urine of nonprofessional athletes: Effects of physical exercise, training, and L‐carnitine administration

M. Zeviani, J. Arenas, S. Didonato, 1991, Muscle & nerve.

Can routine laboratory variables predict survival in COVID-19? An artificial neural network-based approach

A. Lucia, J. Arenas, Miguel Ángel Martín, 2020, Clinical chemistry and laboratory medicine.

Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation

M. Castro‐Gago, J. Arenas, M. Fuster, 2001, Journal of Inherited Metabolic Disease.

Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers

Michel Thiebaut de Schotten, O. Sporns, L. Schneider, 2020, Neurobiology of Aging.

Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis

J. Arenas, Miguel Ángel Martín, C. Navarro, 1996, Neurology.

Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2017, Human molecular genetics.

Correlation of sperm motility with mitochondrial enzymatic activities.

E. Ruiz-Pesini, J. Arenas, J. Montoya, 1998, Clinical chemistry.

Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease.

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2014, Biochimica et biophysica acta.

Serum levels of coenzyme Q10 in patients with Alzheimer's disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2000, Journal of Neural Transmission.

Respiratory chain enzyme activities in isolated mitochondria of lymphocytes from patients with Alzheimer's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1997, Neurology.

Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2010, BMC neurology.

Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse

D. Turnbull, A. Lucia, J. Arenas, 2020, Frontiers in Physiology.

Cerebrospinal fluid levels of alpha-tocopherol in amyotrophic lateral sclerosis

F. Jiménez-Jiménez, M. Ortı́-Pareja, J. Molina, 1998, Journal of Neural Transmission.

Cerebrospinal fluid levels of insulin in patients with Alzheimer's disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2002, Acta neurologica Scandinavica.

Serum levels of coenzyme Q10 in patients with amyotrophic lateral sclerosis

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2000, Journal of Neural Transmission.

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

J. Terradas, J. Arenas, Y. Campos, 1997, Neurology.

Brain Aβ load association and sexual dimorphism of plasma BACE1 concentrations in cognitively normal individuals at risk for AD

O. Sporns, L. Schneider, J. Lorenceau, 2019, Alzheimer's & Dementia.

MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

N. Blau, V. Ramaekers, A. Ormazabal, 2008, Neurology.

Defective hepatic mitochondrial respiratory chain in patients with nonalcoholic steatohepatitis

J. Arenas, Miguel Ángel Martín, M. Pérez-Carreras, 2003, Hepatology.

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

A. Lucia, J. Arenas, Miguel Ángel Martín, 2015, The Journal of physiology.

Title : Phenotype consequences of myophosphorylase dysfunction : insights from the McArdle mouse model . Running Title : McArdle mouse model

J. Arenas, Miguel, Astrid Brulla, 2015 .

Double trouble (McArdle's disease and myasthenia gravis): How can exercise help?

Margarita Pérez, A. Lucia, J. Arenas, 2007, Muscle & nerve.

Can patients with McArdle’s disease run?

A. Lucia, M. Pérez, J. Arenas, 2006, British Journal of Sports Medicine.

Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA

J. Arenas, D. Chinchón, Y. Campos, 1995, Acta neurologica Scandinavica.

Mitochondrial complex I plays an essential role in human respirasome assembly

F. Fontanesi, J. Arenas, Miguel Ángel Martín, 2012 .

Plasma carnitine insufficiency and effectiveness of L‐carnitine therapy in patients with mitochondril myopathy

J. Arenas, Y. Campos, G. Lorenzo, 1993, Muscle & nerve.

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

M. Castro‐Gago, J. Arenas, Miguel Ángel Martín, 2016, Brain and Development.

Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

C. Rodriguez-Lopez, I. Ara, A. Santalla, 2022, Medicine and science in sports and exercise.

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

A. Santalla, G. Nogales-Gadea, J. Arenas, 2021, Genes.

Mitochondrial gene expression and respiratory enzyme activities in cardiac diseases.

B. Bornstein, J. Arenas, R. Garesse, 1998, Biochimica et biophysica acta.

Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy

J. Arenas, M. Villanueva, Y. Campos, 1993, Muscle & nerve.

Respiratory chain enzymes in muscle of endurance athletes: effect of L-carnitine.

J. Arenas, G. Montanari, Y. Campos, 1992, Biochemical and biophysical research communications.

McArdle disease: Another systemic low-inflammation disorder?

Margarita Pérez, A. Lucia, J. Arenas, 2008, Neuroscience Letters.

Biological roles of L-carnitine in perinatal metabolism.

J. Arenas, Y. Campos, M. Martín, 1998, Early human development.

X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

R. Rodenburg, J. Smeitink, J. Arenas, 2007, Annals of neurology.

MiRNA-15b and miRNA-125b are associated with regional Aβ-PET and FDG-PET uptake in cognitively normal individuals with subjective memory complaints

O. Sporns, L. Schneider, J. Lorenceau, 2021, Translational Psychiatry.

Regulation of Mitochondrial Function by the Actin Cytoskeleton

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2021, Frontiers in Cell and Developmental Biology.

impair performance? world-class endurance athletes: does this mutation gene in AMPD1 Frequency of the C34T mutation of the

A. Lucia, J. Arenas, Miguel Ángel Martín, 2015 .

Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?

A. Lucia, J. Arenas, Miguel Ángel Martín, 2005, Journal of applied physiology.

Response to Letter to the Editor

L. Ruilope, A. Lucia, J. Arenas, 2021, Obesity reviews : an official journal of the International Association for the Study of Obesity.

Cerebrospinal fluid levels of non-neurotransmitter amino acids in patients with Alzheimer's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1998, Journal of Neural Transmission.

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis

J. Arenas, F. Cañadillas, F. Bustos, 2002, Muscle & nerve.

Serum levels of beta‐carotene, alpha‐carotene, and vitamin A in patients with amyotrophic lateral sclerosis

F. Jiménez-Jiménez, M. Ortı́-Pareja, J. Molina, 1999, Acta neurologica Scandinavica.

Soluble fms-like tyrosine kinase-1: a potential early predictor of respiratory failure in COVID-19 patients

A. Lucia, J. Arenas, Miguel Ángel Martín, 2021, Clinical chemistry and laboratory medicine.

Exercise capacity in a 78 year old patient with McArdle’s disease: it is never too late to start exercising

Margarita Pérez, A. Lucia, M. Pérez, 2006, British Journal of Sports Medicine.

Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

A. Lucia, G. Nogales-Gadea, J. Arenas, 2016, Genetics in Medicine.

Congenital Hydranencephalic-Hydrocephalic Syndrome Associated With Mitochondrial Dysfunction

M. Castro‐Gago, J. Arenas, A. Alonso, 1999, Journal of child neurology.

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines

B. Bornstein, J. Arenas, Miguel Ángel Martín, 2002, Human mutation.

Molecular analysis of Spanish patients with AMP deaminase deficiency

J. Arenas, Miguel Ángel Martín, C. Navarro, 2000, Muscle & nerve.

Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.

M. Zeviani, J. Arenas, Miguel Ángel Martín, 2022, Cell metabolism.

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

A. Santalla, G. Nogales-Gadea, J. Arenas, 2022, International journal of molecular sciences.

Missense mutations have unexpected consequences: The McArdle disease paradigm

A. Lucia, G. Nogales-Gadea, J. Arenas, 2018, Human mutation.

Effect of nitric oxide on mitochondrial activity of human synovial cells

B. Cillero-Pastor, J. Arenas, Miguel Ángel Martín, 2011, BMC musculoskeletal disorders.

AMPD1 Genotypes and Exercise Capacity in McArdle Patients

A. Lucia, M. Pérez, J. Arenas, 2007, International journal of sports medicine.

Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family

J. Molina, B. Bornstein, J. Arenas, 2001, Neurology.

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

S. Seneca, J. Arenas, Miguel Ángel Martín, 2015, Journal of proteomics.

Intestinal pseudo‐obstruction and urinary retention: cardinal features of a mitochondrial DNA‐related disease

J. Arenas, J. Guerra-Vales, A. García-Velasco, 2003, Journal of internal medicine.

Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction

J. Arenas, Miguel Ángel Martín, Sandra López-Calcerrada, 2020, Cells.

Abnormal carnitine distribution in the muscles of patients with idiopathic inflammatory myopathy.

J. Gómez-Reino, J. Arenas, M. R. Gonzalez-Crespo, 1996, Arthritis and rheumatism.

Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy.

J. Gómez-Reino, J. Arenas, Y. Campos, 1995, Annals of the rheumatic diseases.

Physical Exercise and Mitochondrial Disease: Insights From a Mouse Model

A. Lucia, J. Arenas, Miguel Ángel Martín, 2019, Front. Neurol..

Non-osteogenic muscle hypertrophy in children with McArdle disease

I. Ara, L. Alegre, A. Santalla, 2018, Journal of Inherited Metabolic Disease.

Effect of nitric oxide on mitochondrial respiratory activity of human articular chondrocytes

M. D. de Andrés, J. Arenas, F. Blanco, 2004, Annals of the rheumatic diseases.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

J. Arenas, Miguel Ángel Martín, F. Martínez-Azorín, 2016, neurogenetics.

Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, Human mutation.

Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects

P. Boya, J. Arenas, Miguel Ángel Martín, 2022, Antioxidants.

Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?

Margarita Pérez, A. Lucia, J. Arenas, 2009, Neuromuscular Disorders.

Nitric oxide compounds have different effects profiles on human articular chondrocyte metabolism

M. D. de Andrés, J. Arenas, Miguel Ángel Martín, 2013, Arthritis Research & Therapy.

Mobilisation of mesenchymal cells into blood in response to skeletal muscle injury

A. Lucia, J. Arenas, A. Andreu, 2006, British Journal of Sports Medicine.

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

J. Millán, F. Magdinier, J. Arenas, 2022, International journal of molecular sciences.

Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.

A. Lucia, J. Arenas, A. Moreno-Izquierdo, 2020, Stem cell research.

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

J. Arenas, C. Ayuso, Maria Inmaculada Martin-Merida, 2019, Stem cell research.

Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A.

A. Lucia, J. Arenas, R. Garesse, 2019, Stem cell research.

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

R. Fletterick, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases].

M. Castro‐Gago, J. Arenas, J. Eirís-Puñal, 1999, Revista de neurologia.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

P. Navas, E. Ruiz-Pesini, E. Trevisson, 2016, Mitochondrion.

Cerebrospinal fluid carnitine levels in patients with Alzheimer's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1998, Journal of the Neurological Sciences.

Mitochondrial DNA haplogroups: role in the prevalence and severity of knee osteoarthritis.

J. Arenas, F. Blanco, C. Fernández-Lôpez, 2008, Arthritis and rheumatism.

Physical exercise and epicardial adipose tissue: A systematic review and meta‐analysis of randomized controlled trials

L. Ruilope, A. Lucia, J. Arenas, 2020, Obesity reviews : an official journal of the International Association for the Study of Obesity.

Letters to the editor: Letters to the Editor

N. Chu, Chin‐Chang Huang, J. Slopis, 1991 .

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.

R. Carrozzo, F. Santorelli, J. Arenas, 2006, Genomics.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2014, Orphanet Journal of Rare Diseases.

Cerebrospinal fluid levels of alpha-tocopherol (vitamin E) in Alzheimer's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 2005, Journal of Neural Transmission.

Oxidative Stress in Skin Fibroblasts Cultures of Patients with Huntington’s Disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2006, Neurochemical Research.

Serum levels of coenzyme Q10 in patients with multiple sclerosis

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2000, Acta neurologica Scandinavica.

Serum levels of coenzyme Q10 in patients with Parkinson's disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2000, Journal of Neural Transmission.

Mitochondrial Complex III Deficiency of Nuclear Origin

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2013 .

Neurotransmitter amino acids in cerebrospinal fluid of patients with Alzheimer's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1998, Journal of Neural Transmission.

Respiratory chain enzyme activities in lymphocytes from untreated patients with Parkinson disease.

J. Molina, J. Arenas, Y. Campos, 1993, Clinical chemistry.

A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2015, Journal of the Neurological Sciences.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

J. Arenas, Miguel Ángel Martín, E. Rivas, 2019, Orphanet Journal of Rare Diseases.

Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

J. Arenas, D. Lora, J. García-García, 2022, Neuromuscular Disorders.

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2021, Journal of clinical medicine.

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2020, Journal of Medical Genetics.

[The use of cardiopulmonary exercise test in patients with mitochondrial myopathies].

J. Arenas, T. Montemayor, Y. Campos, 2000, Medicina clinica.

Mutation analysis in 16 patients with mtDNA depletion

E. Bertini, R. Carrozzo, N. Petit, 2003, Human mutation.

McArdle disease: molecular genetic update.

C. Bruno, G. Nogales-Gadea, J. Arenas, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.

Tsutomu Suzuki, J. Arenas, Y. Kirino, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

S. Seneca, J. Arenas, Miguel Ángel Martín, 2010, Human mutation.

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

R. Carrozzo, F. Santorelli, B. Bornstein, 2005, The Biochemical journal.

Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches

J. Arenas, M. E. Gallardo, Marta García-López, 2021, Genes.

Mitochondrial respiratory chain dysfunction: implications in neurodegeneration.

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2012, Free radical biology & medicine.

Mitochondrial disorders due to nuclear OXPHOS gene defects.

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2009, Advances in experimental medicine and biology.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

A. Lucia, J. Arenas, Miguel Ángel Martín, 2020, Genes.

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2019, Genes.

Genotype modulators of clinical severity in McArdle disease

Margarita Pérez, A. Lucia, J. Arenas, 2007, Neuroscience Letters.

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

A. Ribes, J. Arenas, B. Garavaglia, 1997, Pediatric neurology.

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

B. Merinero, J. Arenas, Miguel Ángel Martín, 2010, Biochimica et biophysica acta.

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

A. Lucia, G. Nogales-Gadea, J. Arenas, 2020, International journal of molecular sciences.

Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

J. Arenas, I. Aguilera, J. Bautista, 2000, Muscle & nerve.

[Multiple symmetrical lipomatosis with familial polineuropathy].

J. Arenas, Y. Aladro, C. Muñoz-Fernández, 2001, Revista de neurología (Ed. impresa).

Decreased cerebrospinal fluid levels of neutral and basic amino acids in patients with Parkinson's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1997, Journal of the Neurological Sciences.

[Multiple symmetric lipomatosis associated to polyneuropathology, atrophy of the cerebellum and mitochondrial cytopathy].

M. Castro‐Gago, J. Arenas, J. Eirís-Puñal, 2003, Revista de neurologia.

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients

Alejandro Lucia, Ana Cabello, Alberto Blazquez, 2007, Human mutation.

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

B. V. van Engelen, R. Wevers, J. Arenas, 2004, Annals of human genetics.

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

I. Férnandez-Cadenas, J. Arenas, J. Gámez, 2003, Neurology.

Resolution of a mispaired secondary structure intermediate could account for a novel micro‐insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

M. Krawczak, J. Arenas, Y. Campos, 2001, Clinical genetics.

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, Y. Campos, 2000, Neuromuscular Disorders.

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, J. Vílchez, 2000, Human mutation.

A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, Y. Campos, 2000, Neuromuscular Disorders.

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

J. Arenas, Miguel Ángel Martín, A. Cabello, 2000, Muscle & nerve.

McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient

J. Arenas, Miguel Ángel Martín, Y. Campos, 1999, Neuromuscular Disorders.

Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients

J. Arenas, A. Muñoz, F. Mateos, 1999, Neuroradiology.

Molecular Genetics of OXPHOS Disorders

J. Arenas, Miguel Ángel Martín, A. Blázquez, 2016 .

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.

J. Arenas, Miguel Ángel Martín, J. Docampo, 2019, Molecular genetics and metabolism.

Gene dosage effect in one family with myoclonic epilepsy and ragged‐red fibers (MERRF)

J. Arenas, A. Cruz-Martínez, J. Arpa, 1997, Acta neurologica Scandinavica.

Small GTPases of the Ras superfamily and glycogen phosphorylase regulation in T cells

A. Lucia, J. Arenas, Miguel Ángel Martín, 2019, Small GTPases.

The V368i mutation in Twinkle does not segregate with adPEO

V. Tiranti, M. Zeviani, J. Arenas, 2003, Annals of neurology.

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

A. Lucia, J. Arenas, Miguel Ángel Martín, 2015, Disease Models & Mechanisms.

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

J. Carretero, J. Arenas, Miguel Ángel Martín, 2007, Neuromuscular Disorders.

McArdle disease does not affect skeletal muscle fibre type profiles in humans

T. Noakes, A. Santalla, A. Lucia, 2014, Biology Open.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

J. Arenas, A. Delmiro, F. Martínez-Azorín, 2017, Clinical genetics.

Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria

J. Arenas, X. Montagutelli, A. Fontanellas, 2005, Experimental dermatology.

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2022, Genes.

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.

A. Ribes, J. Arenas, P. Briones, 1994, The Journal of pediatrics.

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

A. Lucia, G. Nogales-Gadea, J. Arenas, 2010, PloS one.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Eduardo Ruiz-Pesini, Cristina Ugalde, Jan A Smeitink, 2008, Human molecular genetics.

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency

J. Arenas, Miguel Ángel Martín, F. Bustos, 2000, Human mutation.

Molecular analysis in spanish patients with muscle carnitine palmitoyltransferase deficiency

J. Arenas, Miguel Ángel Martín, P. del Hoyo, 1999, Muscle & nerve.

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

S. Seneca, T. Gabaldón, J. Arenas, 2009, Mitochondrion.

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2009, Neuromuscular Disorders.

Respiratory‐chain enzyme activities in isolated mitochondria of lymphocytes from untreated Parkinson's disease patients

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1996, Neurology.

Role of European mitochondrial DNA haplogroups in the prevalence of hip osteoarthritis in Galicia, Northern Spain

J. Gómez-Reino, Antonio González, J. Arenas, 2009, Annals of the rheumatic diseases.

Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

M. Castro‐Gago, J. Arenas, J. Eirís-Puñal, 2001, Journal of child neurology.

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense‐mediated mRNA decay

A. Lucia, I. Férnandez-Cadenas, G. Nogales-Gadea, 2008, Human mutation.

Favorable Responses to Acute and Chronic Exercise in McArdle Patients

Margarita Pérez, A. Lucia, G. Nogales-Gadea, 2007, Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine.

Exercise training in mitochondrial myopathy: A randomized controlled trial

J. Arenas, P. Cejudo, T. Montemayor, 2005, Muscle & nerve.

trainingmuscle fiber adaptations with marathon

T. Noakes, G. Nogales-Gadea, J. Arenas, 2015 .

Histochemical study of the vastus lateralis muscle fibre types of athletes.

J. Arenas, A. Cabello, J. Ricoy, 1998, Journal of physiology and biochemistry.

Low versus high carbohydrates in the diet of the world‐class athlete: insights from McArdle's disease

A. Santalla, A. Lucia, G. Nogales-Gadea, 2017, The Journal of physiology.

Neurotransmitter amino acids in cerebrospinal fluid of patients with Parkinson's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1996, Journal of the Neurological Sciences.

Cerebrospinal fluid cyclic guanosine 3′5′ monophosphate levels in Parkinson's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1998, Journal of the Neurological Sciences.

Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.

A. Lucia, J. Arenas, A. Santos-Lozano, 2016, Clinical nutrition.

strength in humans Linkage of myostatin pathway genes with knee

D. Lambrechts, G. Beunen, J. Aerssens, 2015 .

Absence of p.R50X Pygm read-through in McArdle disease cellular models

A. Lucia, J. Arenas, Miguel Ángel Martín, 2019, Disease Models & Mechanisms.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

B. Bornstein, J. Arenas, Miguel Ángel Martín, 2006, Archives of neurology.

Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats

J. Arenas, Miguel Ángel Martín, A. Pérez-Castillo, 2001, Journal of neurochemistry.

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

M. Castro‐Gago, J. García-Peñas, J. Arenas, 1998, Neuromuscular Disorders.

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy

J. Arenas, Y. Campos, A. Cabello, 2007, Neuromuscular Disorders.

Prevalence and progression of mitochondrial diseases: A study of 50 patients

J. Arenas, Miguel Ángel Martín, A. Cruz-Martínez, 2003, Muscle & nerve.

Mutation Analysis in 16 Patients With mtDNA

E. Bertini, R. Carrozzo, N. Petit, 2003 .

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

J. Arenas, Y. Campos, A. Cabello, 1995, Pediatric neurology.

Leber's Congenital Amaurosis Associated With Mitochondrial Dysfunction

J. Arenas, Y. Campos, Manuel Castro-Gago, 1996, Journal of child neurology.

Apolipoprotein E polymorphism and carotid atherosclerosis in patients with coronary disease.

J. Arenas, Miguel Ángel Martín, A. Gómez de la Cámara, 2004, International journal of cardiology.

[Neuro-ophthalmology in mitochondrial disorders].

J. Arenas, M. Martín, 2002, Archivos de la Sociedad Espanola de Oftalmologia.

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

T. Gabaldón, J. Arenas, Miguel Ángel Martín, 2010, PloS one.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

J. Arenas, Miguel Ángel Martín, P. Briones, 2005, Archives of neurology.

Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.

A. Lucia, J. Arenas, Miguel Ángel Martín, 2020, Molecular genetics and metabolism.

Free radicals‐mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA

J. Arenas, J. Montoya, A. Solano, 2005, FEBS letters.

Complex I Defect in muscle from patients with Huntington's disease

J. Arenas, Miguel Ángel Martín, A. Cabello, 1998, Annals of neurology.

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

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2023, International journal of molecular sciences.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

J. Arenas, Miguel Ángel Martín, F. Martínez-Azorín, 2015, neurogenetics.

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE

J. Arenas, A. Andreu, R. Garesse, 2005, Neuromuscular Disorders.

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE

J. Arenas, A. Andreu, Y. Campos, 2004, Neurology.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, BMC Nephrology.

Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity

J. Arenas, A. Cruz-Martínez, J. Arpa, 1994, Acta neurologica Scandinavica.

NARP-MILS syndrome caused by 8993 T > G mitochondrial DNA mutation: a clinical, genetic and neuropathological study

J. Arenas, I. Ferrer, M. Olivé, 2006, Acta Neuropathologica.

Effects of l‐carnitine on the pyruvate dehydrogenase complex and carnitine palmitoyl transferase activities in muscle of endurance athletes

J. Arenas, J. Villalón, Y. Campos, 1994, FEBS letters.

Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene

B. Bornstein, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

A mitochondrial tRNALys gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

J. Arenas, Miguel Ángel Martín, Y. Campos, 2000, Neuromuscular Disorders.

A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

J. Arenas, Miguel Ángel Martín, A. Hernández-Laín, 2016, Muscle & nerve.

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

J. Arenas, Y. Campos, A. Cabello, 1997, Biochemical and biophysical research communications.

Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-alpha in L929 cells.

P. Navas, B. Bornstein, J. Arenas, 2003, The Biochemical journal.

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.

A. Lucia, G. Nogales-Gadea, J. Arenas, 2016, Medicine and science in sports and exercise.

Mitochondrial activity is modulated by TNFalpha and IL-1beta in normal human chondrocyte cells.

B. Cillero-Pastor, J. Arenas, F. Blanco, 2006, Osteoarthritis and cartilage.

Cerebrospinal fluid levels of alpha-tocopherol (vitamin E) in Parkinson's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 2005, Journal of Neural Transmission.

A novel mutation in the mitochondrial MTND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.

E. Ruiz-Pesini, J. Arenas, Miguel Ángel Martín, 2019, Mitochondrion.

Genes and exercise intolerance: insights from McArdle disease.

A. Santalla, A. Lucia, G. Nogales-Gadea, 2016, Physiological genomics.

McArdle disease: what do neurologists need to know?

Alejandro Lucia, Margarita Pérez, A. Lucia, 2008, Nature Clinical Practice Neurology.

Molecular genetics of McArdle’s disease

G. Nogales-Gadea, J. Arenas, A. Andreu, 2007, Current neurology and neuroscience reports.

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

A. Santalla, Margarita Pérez, A. Lucia, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients

T. Noakes, Margarita Pérez, A. Lucia, 2010, European Journal of Applied Physiology.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

A. Lucia, G. Nogales-Gadea, J. Arenas, 2008, Journal of Medical Genetics.

The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease

Margarita Pérez, A. Lucia, G. Nogales-Gadea, 2007, Neuromuscular Disorders.

The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease

A. Lucia, M. Pérez, J. Arenas, 2007, British Journal of Sports Medicine.

Exercise Capacity in a Child With McArdle Disease

Margarita Pérez, A. Lucia, J. Arenas, 2007, Journal of child neurology.

Novel mutation in the PYGM gene resulting in McArdle disease.

A. Lucia, I. Férnandez-Cadenas, J. Arenas, 2006, Archives of neurology.

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene

E. Gallardo, I. Férnandez-Cadenas, J. Arenas, 2005, Neuroscience Letters.

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

I. Férnandez-Cadenas, J. Arenas, Miguel Ángel Martín, 2003, Muscle & nerve.

Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

Isabel Aguilera, Yolanda Campos, J. Arenas, 2001, Journal of the Neurological Sciences.

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain

J. Arenas, Miguel Ángel Martín, Y. Campos, 1998, Journal of the Neurological Sciences.

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of ‘double trouble’

J. Arenas, Miguel Ángel Martín, Y. Campos, 1997, Neuromuscular Disorders.

Cerebrospinal fluid levels of alpha-tocopherol in patients with multiple sclerosis

F. Jiménez-Jiménez, M. Ortı́-Pareja, J. Molina, 1998, Neuroscience Letters.

Cerebrospinal fluid carnitine levels in patients with Parkinson's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1997, Journal of the Neurological Sciences.

Plasma levels of nitrates in patients with Parkinson's disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 1994, Journal of the Neurological Sciences.

A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy

J. Arenas, A. Andreu, R. Garesse, 2001, Neuromuscular Disorders.

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

A. Lucia, G. Nogales-Gadea, J. Arenas, 2015, Muscle & nerve.

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

A. Santalla, G. Nogales-Gadea, J. Arenas, 2022, Molecular metabolism.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

A. Santalla, Margarita Pérez, A. Lucia, 2017, BMC Genomics.

How Wide are Mitochondria Involved in Exercise Intolerance

S. Dimauro, J. Arenas, Miguel Ángel Martín, 2002 .

Are elite endurance athletes genetically predisposed to lower disease risk?

A. Lucia, J. Arenas, J. Ruiz, 2010, Physiological genomics.

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.

J. Arredondo, M. Cervera, B. Bornstein, 2012, Mitochondrion.

Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

J. Arenas, Miguel Ángel Martín, T. Tuñón, 2000, Neuromuscular Disorders.

Cerebrospinal fluid nitrate levels in patients with Parkinson's disease

J. Benito-León, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1996, Acta neurologica Scandinavica.

Plasma LDH: A specific biomarker for lung affectation in COVID-19?

A. Lucia, J. Arenas, Miguel Ángel Martín, 2021, Practical Laboratory Medicine.

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

J. Arenas, Miguel Ángel Martín, C. Fiuza-Luces, 2023, International journal of molecular sciences.

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes

J. Arenas, A. Astudillo, Y. Campos, 2003, Neuromuscular Disorders.

[Molecular genetics of disorders of the mitochondrial respiratory chain].

J. Arenas, Y. Campos, M. Martín, 2002, Revista de neurologia.

Normal cerebrospinal fluid levels of insulin in patients with Parkinson's disease

F. Jiménez-Jiménez, J. Molina, J. Arenas, 2000, Journal of Neural Transmission.

Cerebrospinal Fluid Nitrate Levels in Patients with Multiple Sclerosis

F. Jiménez-Jiménez, M. Ortı́-Pareja, J. Molina, 1999, European Neurology.

Respiratory chain enzyme activities in spermatozoa from untreated Parkinson's disease patients

E. Ruiz-Pesini, F. Jiménez-Jiménez, M. Ortı́-Pareja, 1999, Journal of Neural Transmission.

The second wind phenomenon in very young McArdle’s patients

María Fernández del Valle, Margarita Pérez, A. Lucia, 2009, Neuromuscular Disorders.

Muscle dysfunction in elderly individuals with hip fracture.

J. Gómez-Reino, J. Arenas, M. R. Gonzalez-Crespo, 1999, The Journal of rheumatology.

Genotype distributions in top-level soccer players: a role for ACE?

A. Lucia, J. Arenas, J. Ruiz, 2009, International journal of sports medicine.

C34T mutation of the AMPD1 gene in an elite white runner

A. Lucia, J. Arenas, Miguel Ángel Martín, 2009, BMJ Case Reports.

World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes

Carlos A. Muniesa, A. Lucia, J. Arenas, 2008, British Journal of Sports Medicine.

C34T mutation of the AMPD1 gene in an elite white runner

A. Lucia, J. Arenas, A. S. San Juan, 2006, British Journal of Sports Medicine.

Clinical variability associated with the mutation at nucleotide position 8344 of the mitochondrial DNA

J. Arenas, Y. Campos, A. Cabello, 1996, Journal of Inherited Metabolic Disease.

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

A. Lucia, G. Nogales-Gadea, J. Arenas, 2012, Brain : a journal of neurology.

Muscle fiber type proportion and size is not altered in mcardle disease

A. Lucia, J. Arenas, Miguel Ángel Martín, 2017, Muscle & nerve.

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease

Alejandro Lucia, Antoni L. Andreu, A. Lucia, 2012, PloS one.

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2022, Journal of Neurology.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

A. Lucia, G. Nogales-Gadea, J. Arenas, 2019, Scientific Reports.

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease

A. Lucia, G. Nogales-Gadea, J. Arenas, 2015, Genetics in Medicine.

What isn't taught in medical schools: the William Wordsworth lesson

Margarita Pérez, A. Lucia, J. Arenas, 2008, Nature Clinical Practice Cardiovascular Medicine.

Strenuous endurance exercise improves life expectancy: it's in our genes

A. Lucia, J. Arenas, J. Ruiz, 2010, British Journal of Sports Medicine.

Mitochondrial Disease and Stroke

J. Arenas, A. Gil-Peralta, I. Aguilera, 2001, Stroke.

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.

E. Ruiz-Pesini, A. Lucia, G. Nogales-Gadea, 2011, Mitochondrion.

Prospective study of serum and urinary nitrate levels in patients with systemic lupus erythematosus.

J. Gómez-Reino, E. Martı́n-Mola, J. Arenas, 1998, British journal of rheumatology.

High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2023 .

Serum levels of nitrates in focal cerebral ischemia

F. Jiménez-Jiménez, J. Molina, J. Arenas, 1995, European journal of neurology.

Future avenues for Alzheimer's disease detection and therapy: liquid biopsy, intracellular signaling modulation, systems pharmacology drug discovery

O. Sporns, L. Schneider, J. Lorenceau, 2020, Neuropharmacology.

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.

A. Torroni, A. Achilli, R. Scozzari, 2003, American journal of human genetics.

The Use of Single Base Extension (SBE) for the Assessment of European Mitochondrial DNA Haplogroups in Galician Population

J. Arenas, F. Blanco, I. Rego, 2008 .

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

A. Lucia, G. Nogales-Gadea, J. Arenas, 2012, AGE.

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

A. Santalla, A. Lucia, G. Nogales-Gadea, 2015, Human mutation.

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

R. Fletterick, J. Arenas, Miguel Ángel Martín, 2001, Annals of neurology.

Serum levels of nitrates in focal cerebral ischemia

F. Jiménez-Jiménez, J. Molina, J. Arenas, 1995, European journal of neurology.

Differential default mode network trajectories in asymptomatic individuals at risk for Alzheimer's disease

Michel Thiebaut de Schotten, O. Sporns, L. Schneider, 2019, Alzheimer's & Dementia.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

A. Lucia, G. Nogales-Gadea, J. Arenas, 2019, Scientific Reports.

Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene.

J. Arenas, M. García-Silva, Y. Campos, 2012, Mitochondrion.

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

S. Seneca, J. Arenas, Miguel Ángel Martín, 2015, Journal of proteomics.