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List of works by Miguel Angel Martín

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

scientific article published on 01 April 2010

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

scientific article published in January 2018

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

scientific article published on 10 October 2019

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

scientific article published on 01 August 2000

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

scientific article published on 11 May 2016

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

scientific article published on 01 February 2000

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

scientific article published on 01 October 2000

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

scientific article published on 01 July 2001

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

scientific article

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

scientific article published on 2 September 2015

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

scientific article

AMPD1 genotypes and exercise capacity in McArdle patients.

scientific article published on 9 August 2007

Abeta accumulation in choroid plexus is associated with mitochondrial-induced apoptosis.

scientific article published on 5 October 2008

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

scientific article published on 13 January 2020

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

scientific article published on 19 August 2020

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

article

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

scientific article

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

scientific article published on 01 January 2006

Bilateral Striatal Necrosis and MELAS Associated with a New T3308C Mutation in the Mitochondrial ND1 Gene ⬇️

scientific article published on September 18, 1997

Biological roles of L-carnitine in perinatal metabolism.

scientific article

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

scientific article published on 02 April 2014

C34T mutation of the AMPD1 gene in an elite white runner

scientific article published on 23 January 2009

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

scientific article published on 17 August 2016

Can patients with McArdle's disease run?

scientific article

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

scientific article published on 20 August 2013

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

scientific article published in August 2010

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

scientific article published on 11 March 2020

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

scientific article published on 03 December 2008

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

scientific article

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

scientific article

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

scientific article published on 01 November 2018

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

scientific article

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

scientific article published on 18 January 2018

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

scientific article published on 20 August 2018

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

scientific article

Does the C34T Mutation in AMPD1 Alter Exercise Capacity in the Elderly?

scientific article published on 01 June 2006

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

scientific article published on 01 September 2001

Effect of nitric oxide on mitochondrial activity of human synovial cells.

scientific article

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

scientific article published in March 2005

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

scientific article published on 28 July 2017

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

scientific article

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

scientific article published on August 2006

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

scientific article published on 20 June 2014

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

scientific article

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

scientific article published on 01 February 2008

Favorable responses to acute and chronic exercise in McArdle patients

scientific article published on 01 July 2007

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

scientific article published on 7 October 2015

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

scientific article

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

article

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

scientific article

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

scientific article published on 01 November 2019

Genes and exercise intolerance: insights from McArdle disease

scientific article published on 13 October 2015

Genotype modulators of clinical severity in McArdle disease.

scientific article published on 21 June 2007

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

scientific article

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

scientific article

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

scientific article published on 8 January 2018

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

scientific article published on 22 April 2022

Impact of the mitochondrial genetic background in complex III deficiency

scientific article

In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 April 2010

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

scientific article

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

scientific article

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

scientific article published on 26 March 2019

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

scientific article published in May 2017

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

scientific article published on 20 June 2018

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

scientific article published on 19 March 2010

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

scientific article published on 03 June 2015

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

scientific article

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

scientific article published on 01 May 1999

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

scientific article published on 05 July 2007

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

scientific article published on 24 September 2015

Missense mutations have unexpected consequences: The McArdle disease paradigm

scientific article published on 26 July 2018

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

scientific article published on 19 September 2008

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

scientific article published on 30 April 2020

Mitochondrial Respiration Controls Lysosomal Function during Inflammatory T Cell Responses.

scientific article published on 19 August 2015

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

scientific article published on 5 May 2006

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

scientific article

Mitochondrial disorders due to nuclear OXPHOS gene defects.

scientific article published on January 2009

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

scientific article published on November 1, 2001

Mitochondrial respiratory chain dysfunction: implications in neurodegeneration.

scientific article published on 14 May 2012

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

scientific article published on 01 October 2011

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

scientific article published on 28 June 2006

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

scientific article

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

scientific article published on 01 August 2002

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

scientific article published on 01 November 2001

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

scientific article published on 31 March 2016

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

scientific article published on 11 November 2016

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

scientific article published on 7 January 2018

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

scientific article published on 01 November 2000

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

scientific article

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

scientific article

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

scientific article published on 28 September 2016

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

scientific article

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

scientific article

Non-osteogenic muscle hypertrophy in children with McArdle disease.

scientific article published on 28 March 2018

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

scientific article published on 26 July 2020

Novel mutation in the PYGM gene resulting in McArdle disease.

scientific article

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

scientific article published on 01 March 2009

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

scientific article

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

scientific article published on 21 April 2009

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

scientific article published in 2021

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

scientific article published on 18 May 2015

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

scientific article published on 17 December 2020

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

scientific article published on 22 February 2011

Renal pathology in children with mitochondrial diseases

scientific article published on 24 June 2005

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

scientific article published on 18 April 2017

Retrospective natural history of thymidine kinase 2 deficiency.

scientific article

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

scientific article published on 22 September 2017

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

scientific article published on 27 October 2016

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

scientific article

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

scientific article published on 01 January 2000

Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation

scientific article published on 01 December 1999

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.

scientific article published on 11 March 2015

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

scientific article published in June 2000

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

scientific article published on 25 February 2016

Termination factor-mediated DNA loop between termination and initiation sites drives mitochondrial rRNA synthesis

scientific article published on 01 December 2005

The 'McArdle paradox': exercise is a good advice for the exercise intolerant.

scientific article

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

article

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

scientific article published on March 2002

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

scientific article published on 6 July 2007

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

scientific article published on 3 June 2016

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

scientific article

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

scientific article published in September 2003

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

scientific article

Understanding mitochondrial diseases

scientific article published on 16 March 2017

When should a nephrologist suspect a mitochondrial disease?

scientific article

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome

scientific article published on 10 October 2013

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

scientific article

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

scientific article published on 23 June 2010

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

scientific article published on 12 June 2015

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