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List of works by Joaquín Arenas

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

scientific article published in January 2018

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

scientific article published on 01 January 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 novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.

scientific article published on 23 March 2007

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

scientific article

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

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

scientific article published on 01 November 1996

Amylase levels in pleural effusions: a consecutive unselected series of 841 patients.

scientific article published in February 2002

Are elite endurance athletes genetically predisposed to lower disease risk?

scientific article published on 22 December 2009

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

article

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

scientific article published on 28 January 2011

Arylsulfatase A in urine of patients with urothelial tumors

scientific article published on 01 January 1988

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

scientific article

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

scientific article published on 01 September 1997

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

Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity

scientific article published on 01 October 1994

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

Carnitine in muscle, serum, and urine of nonprofessional athletes: effects of physical exercise, training, and L-carnitine administration.

scientific article published on July 1991

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

scientific article published in August 2010

Cerebrospinal fluid carnitine levels in patients with Alzheimer's disease.

scientific article published in March 1998

Cerebrospinal fluid carnitine levels in patients with Parkinson's disease

scientific article published on 01 February 1997

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

scientific article published on February 18, 1998

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

scientific article published on 01 January 1997

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

scholarly article by José Antonio Moreno Molina et al published November 1997 in Journal of Neural Transmission

Cerebrospinal fluid levels of alpha-tocopherol in amyotrophic lateral sclerosis

scientific article published on 01 January 1998

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

scientific article published on 01 June 1998

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

scientific article published in December 2002

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

scientific article published on January 1, 1998

Cerebrospinal fluid nitrate levels in patients with Alzheimer's disease.

scientific article published in December 1996

Cerebrospinal fluid nitrate levels in patients with multiple sclerosis

scientific article published on 01 January 1999

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

scientific article published on November 7, 2011

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

scientific article published on 01 January 1995

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

scientific article published on 01 January 1996

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

scientific article

Complex I defect in muscle from patients with Huntington's disease.

scientific article published in March 1998

Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction.

scientific article published in February 1999

Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.

scientific article published in November 2001

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

Cyclosporine nephrotoxicity and rejection crisis: diagnosis by urinary enzyme excretion

scientific article published on 01 January 1996

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

scientific article published on September 10, 1997

Defective hepatic mitochondrial respiratory chain in patients with nonalcoholic steatohepatitis ⬇️

scientific article published on October 1, 2003

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

scientific article

Diffuse fatty liver in familial heterozygous hypobetalipoproteinemia

scientific article published on 01 July 1997

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

scientific article published on 01 June 2006

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

scientific article published on 15 February 2009

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

Effects of L-carnitine on erythrocyte acyl-CoA, free CoA, and glycerophospholipid acyltransferase in uremia

scientific article published on 01 March 1998

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

scientific article published on 01 March 1994

Exercise Capacity in a Child With McArdle Disease

scientific article published on 01 July 2007

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

Exercise training in mitochondrial myopathy: a randomized controlled trial

scientific article published on 01 September 2005

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 glucose transporter‐2, glucokinase and mitochondrial glycerolphosphate dehydrogenase in pancreatic islets during rat ontogenesis ⬇️

scientific article published on January 1, 2002

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

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

scientific article published on 01 December 2005

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

article

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

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

scientific article published on 21 November 2005

Impact of the mitochondrial genetic background in complex III deficiency

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

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

scientific article published on 01 March 2003

Introduction to the Plan Nacional de Investigación, Desarrollo e Innovación 2008-2011: the strategic action on health

scientific article published on 01 February 2008

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

scientific article

L-Carnitine in dialysis, more than a commercial affair

scientific article published on 01 September 2000

L-carnitine normalizes the reduced carnitine palmitoyl transferase activity in red cells from haemodialysis patients

scientific article published on 01 June 1997

Leber's congenital amaurosis associated with mitochondrial dysfunction

scientific article published on 01 March 1996

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

scientific article

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

scientific article published on 01 August 1997

Levels of nitric oxide are markedly increased in cerebrospinal fluid from patients with severe head injury

scientific article published on 01 January 2000

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

scientific article published on 01 April 2000

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

scientific article published in May 2017

Macro creatine kinase type 2 in a patient with prostatic carcinoma

scientific article published on 01 August 1991

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: what do neurologists need to know?

scientific article published on October 2008

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

scientific article published in July 1995

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

scientific article

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

scientific article published in November 2001

Mitochondrial Disease and Stroke ⬇️

scientific article published on November 1, 2001

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 complex I plays an essential role in human respirasome assembly

scientific article published on 16 February 2012

Mitochondrial diseases associated with cerebral folate deficiency.

scientific article published in April 2008

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

scientific article published on 01 December 1999

Mitochondrial disorders due to nuclear OXPHOS gene defects.

scientific article published on January 2009

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

scientific article

Mitochondrial gene expression and respiratory enzyme activities in cardiac diseases

scientific article published on 01 February 1998

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 in Spanish patients with muscle carnitine palmitoyltransferase deficiency

scientific article published on 01 July 1999

Molecular analysis of Spanish patients with AMP deaminase deficiency

scientific article published on 01 August 2000

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 genetics of McArdle's disease.

scientific article

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

scientific article published on 01 November 2001

Multiple deletions of mitochondrial DNA in muscle from a patient with benign progressive external ophthalmoplegia

scientific article published on 01 January 1996

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

scientific article published on 31 March 2016

Muscle carnitine deficiency associated with zidovudine-induced mitochondrial myopathy.

scientific article published on October 1994

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

Mutation analysis in 16 patients with mtDNA depletion.

scientific article published in April 2003

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

scientific article published on 01 November 2000

Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil.

scientific article published in January 2003

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

scientific article

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

scientific article published on 01 December 1998

Nephrotic Proteinuria Without Hypoalbuminemia: Clinical Characteristics and Response to Angiotensin-Converting Enzyme Inhibition

scientific article published on 01 March 1991

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

scientific article published on January 1, 1998

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

scientific article published on 01 September 1996

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

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

scientific article published on 01 January 2000

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

Oculopharyngeal muscular dystrophy and mitochondrial abnormalities

scientific article published on 01 September 1992

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

scientific article

Oxidative stress in skin fibroblasts cultures of patients with Huntington's disease.

scientific article published on 30 August 2006

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

scientific article published on 21 April 2009

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

scientific article published on 18 May 2015

Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy

scientific article published on 01 February 1993

Plasma levels of nitrates in patients with Parkinson's disease

scientific article published on 01 December 1994

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

scientific article published in March 2003

Reduced carnitine palmitoyl transferase activity and altered acyl-trafficking in red blood cells from hemodialysis patients

scientific article published on 01 January 1996

Renal pathology in children with mitochondrial diseases

scientific article published on 24 June 2005

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

article

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

scientific article published on 01 January 1999

Respiratory chain enzyme defects in patients with idiopathic inflammatory myopathy.

scientific article

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

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

scientific article published on 01 October 1992

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

article

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

scientific article published on 30 June 2016

Serum CK-BB as a tumor marker in patients with carcinoma confirmed histologically

scientific article published on 01 June 1989

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

scientific article published in May 1999

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

scientific article published on 01 January 2000

Serum levels of coenzyme Q10 in patients with amyotrophic lateral sclerosis

scientific article published on 01 January 2000

Serum levels of coenzyme Q10 in patients with multiple sclerosis

scientific article published on 01 March 2000

Serum levels of nitrates in focal cerebral ischemia

scientific article published on 01 July 1995

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

scientific article published on 01 January 2000

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

scientific article published on 01 October 1996

Sirolimus does not exhibit nephrotoxicity compared to cyclosporine in renal transplant recipients.

scientific article published on May 2002

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

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

scientific article

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

scientific article published on 01 November 2003

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

scientific article published on 01 February 1996

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

scientific article published on 27 September 2010

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

scientific article published in September 1997

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

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 V368i mutation in Twinkle does not segregate with AdPEO

scientific article (publication date: February 2003)

The association of acetyl-L-carnitine with glucose and lipid metabolism in human muscle in vivo: the effect of hyperinsulinemia

scientific article published on 01 December 1997

The forgotten clinical investigation ⬇️

scientific article published on December 13, 2012

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

scientific article published on 3 June 2016

The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes

scientific article published on 01 July 2000

The second wind phenomenon in very young McArdle’s patients

scientific article published on 27 May 2009

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

scientific article

Tubular function in patients with hypokalemia induced by sirolimus after renal transplantation ⬇️

scientific article published on May 1, 2003

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

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy

scientific article published on April 2003

Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA

scientific article published on 01 January 1994

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

scientific article published on 9 September 2005

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

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

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

scientific article

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

scientific article

Xanthine Oxidase Pathway and Muscle Damage. Insights from McArdle Disease

scientific article

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

scientific article published on 23 June 2010

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