Miguel Ángel Martín

发表

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.

A New Condition in McArdle Disease: Poor Bone Health—Benefits of an Active Lifestyle

I. Ara, L. Alegre, A. Santalla, 2018, Medicine and science in sports and exercise.

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.

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.

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

I. Ara, A. Lucia, I. Rodríguez-Gómez, 2018, Medicine and science in sports and exercise.

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, The Journal of physiology.

Renal pathology in children with mitochondrial diseases

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

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.

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.

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

Miguel Ángel Martín, C. Jiménez-Mallebrera, A. Hernández-Laín, 2021, Molecular genetics and metabolism reports.

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 Respiration Controls Lysosomal Function during Inflammatory T Cell Responses.

J. Redondo, J. Falcón-Pérez, J. Enríquez, 2015, Cell metabolism.

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.

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

Miguel Ángel Martín, A. Delmiro, I. García‐Consuegra, 2021, International journal of molecular sciences.

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.

Resistance (Weight Lifting) Training in an Adolescent With McArdle Disease

F. Naclerio, A. Lucia, Miguel Ángel Martín, 2013, Journal of child neurology.

Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral Sclerosis

E. Pegoraro, J. M. Cano, Miguel Ángel Martín, 2019, Aging and disease.

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

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

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.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

Mitochondrial complex I plays an essential role in human respirasome assembly

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

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.

McArdle disease: Another systemic low-inflammation disorder?

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

X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

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

Polymorphisms influencing muscle phenotypes in North-African and Spanish populations

A. Lucia, Miguel Ángel Martín, N. Harich, 2012, Annals of human biology.

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.

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.

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Miguel Ángel Martín, C. Paradas, M. Madruga-Garrido, 2021, Orphanet Journal of Rare Diseases.

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.

iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis

Miguel Ángel Martín, J. Fafián-Labora, P. Fernández-Pernas, 2015, Stem Cell Research & Therapy.

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.

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

M. Castro‐Gago, Miguel Ángel Martín, I. García‐Consuegra, 2011, Journal of child neurology.

mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

M. Alegre, M. Avila, J. Oyarzábal, 2021, Molecular Therapy. Nucleic Acids.

Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.

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

When should a nephrologist suspect a mitochondrial disease?

T. Cavero, Miguel Ángel Martín, M. Praga, 2015, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

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.

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

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

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.

Physical Exercise and Mitochondrial Disease: Insights From a Mouse Model

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

Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

Miguel Ángel Martín, C. Domínguez-González, V. Villena Garrido, 2020, BMJ open respiratory research.

Rhodamine-based sensor for real-time imaging of mitochondrial ATP in living fibroblasts

Víctor G Almendro-Vedia, Miguel Ángel Martín, M. Lillo, 2017, Biochimica et biophysica acta. Bioenergetics.

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.

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, Journal of clinical medicine.

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.

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.

Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies

Miguel Ángel Martín, A. Hernández-Laín, C. Domínguez-González, 2021, Neurology.

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.

A. Lucia, Miguel Ángel Martín, R. Garesse, 2017, 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.

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.

P. Navas, B. Bornstein, R. Artuch, 2009, Clinical biochemistry.

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

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

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

A. Schambach, C. Kung, Shengfang Jin, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

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.

Pathogenetic and Prognostic Implications of Increased Mitochondrial Content in Multiple Myeloma

N. Bolli, M. Samur, Y. Tai, 2021, Cancers.

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.

Mitochondrial Complex III Deficiency of Nuclear Origin

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

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.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

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.

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Miguel Ángel Martín, J. A. Cabezas, C. Paradas, 2021, Neuromuscular Disorders.

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

E. Ruiz-Pesini, R. Artuch, Miguel Ángel Martín, 2021, Genes.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

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.

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

B. Bornstein, Miguel Ángel Martín, E. García-Arumí, 2015, Neurology.

Increased dNTP pools rescue mtDNA depletion in human POLG‐deficient fibroblasts

Miguel Ángel Martín, E. García-Arumí, A. Lombès, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2010 .

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.

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.

Role of FAST Kinase Domains 3 (FASTKD3) in Post-transcriptional Regulation of Mitochondrial Gene Expression*

Alexis A. Jourdain, J. Martinou, Miguel Ángel Martín, 2016, The Journal of Biological Chemistry.

Genotype modulators of clinical severity in McArdle disease

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

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.

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.

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.

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

Miguel Ángel Martín, M. Montero, C. Ayuso, 2016, PloS one.

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.

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.

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

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

Muscle MRI in McArdle Disease

Miguel Ángel Martín, J. Vissing, F. Granata, 2022, Neurology.

The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I

Miguel Ángel Martín, A. Delmiro, P. Serrano-Lorenzo, 2018, The Journal of Immunology.

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.

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

M. Errami, Miguel Ángel Martín, M. Casado, 2018, Scientific Reports.

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.

Aβ accumulation in choroid plexus is associated with mitochondrial-induced apoptosis

I. Ferrer, Miguel Ángel Martín, E. Carro, 2010, Neurobiology of Aging.

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.

Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver

T. Saheki, E. Calvo, J. Vázquez, 2023, Molecular genetics and metabolism reports.

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.

iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis

Miguel Ángel Martín, J. Fafián-Labora, P. Fernández-Pernas, 2015, Stem Cell Research & Therapy.

Quantitative analysis of proteins of metabolism by reverse phase protein microarrays identifies potential biomarkers of rare neuromuscular diseases

Miguel Ángel Martín, J. Cuezva, F. Santacatterina, 2015, Journal of Translational Medicine.

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.

trainingmuscle fiber adaptations with marathon

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

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.

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

Miguel Ángel Martín, J. Ehinger, E. Elmér, 2020, International journal of molecular sciences.

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.

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

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

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress

Miguel Ángel Martín, E. García-Arumí, E. Gallardo, 2018, Free radical biology & medicine.

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.

Molecular analysis of Spanish patients with AMP deaminase deficiency

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

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

M. Zeviani, F. Tort, A. Ribes, 2020, Molecular genetics and metabolism.

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.

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.

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.

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

Miguel Ángel Martín, D. Lora, P. Serrano-Lorenzo, 2023, Journal of clinical medicine.

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.

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

E. Ruiz-Pesini, Miguel Ángel Martín, E. García-Arumí, 2022, Antioxidants.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Miguel Ángel Martín, M. Moreno-García, A. Arteche-López, 2021, European Journal of Human Genetics.

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.

Intracellular expression of Tat alters mitochondrial functions in T cells: a potential mechanism to understand mitochondrial damage during HIV-1 replication

E. Calvo, Miguel Ángel Martín, D. Muriaux, 2015, Retrovirology.

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.

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.

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.

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.

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

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

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 carnitine levels in patients with Parkinson's disease

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

A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation

E. Ruiz-Pesini, Miguel Ángel Martín, J. Montoya, 2010, Journal of Neurology Neurosurgery & Psychiatry.

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

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

Quantitative analysis of proteins of metabolism by reverse phase protein microarrays identifies potential biomarkers of rare neuromuscular diseases

Miguel Ángel Martín, J. Cuezva, F. Santacatterina, 2015, Journal of Translational Medicine.

Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency

Miguel Ángel Martín, M. García-Silva, A. Martínez de Aragón, 2021, JIMD reports.

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

M. Vorgerd, C. Bruno, A. Santalla, 2020, Orphanet Journal of Rare Diseases.

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 .

The ‘McArdle paradox’: exercise is a good advice for the exercise intolerant

A. Lucia, Miguel Ángel Martín, A. Andreu, 2012, British Journal of Sports Medicine.

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.

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

Miguel Ángel Martín, A. Hernández-Laín, C. Domínguez-González, 2023, Journal of clinical medicine.

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.

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

C. Marco-Marín, Miguel Ángel Martín, I. Azorín, 2022, Neuropathology and applied neurobiology.

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.

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.

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

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

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features.

B. Bornstein, P. García-Pavía, Miguel Ángel Martín, 2013, Circulation journal : official journal of the Japanese Circulation Society.

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 .

Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

M. Errami, Miguel Ángel Martín, M. Casado, 2018, Scientific Reports.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

Miguel Ángel Martín, Á. Hernández-Martín, S. Palencia-Pérez, 2023, Genes.

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

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

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

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.

Aβ accumulation in choroid plexus is associated with mitochondrial-induced apoptosis

I. Ferrer, Miguel Ángel Martín, E. Carro, 2010, Neurobiology of Aging.

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.

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.

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

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

Resistance (Weight Lifting) Training in an Adolescent With McArdle Disease

F. Naclerio, A. Lucia, Miguel Ángel Martín, 2013, Journal of child neurology.