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Lista de obras de Miguel Angel Martín

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

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

artículo científico publicado en 2000

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

artículo científico publicado en 2000

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

AMPD1 genotypes and exercise capacity in McArdle patients.

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado el 18 de septiembre de 1997

Biological roles of L-carnitine in perinatal metabolism.

artículo científico publicado en 1998

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

artículo científico publicado en 2014

C34T mutation of the AMPD1 gene in an elite white runner

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Can patients with McArdle's disease run?

artículo científico publicado en 2007

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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].

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Favorable responses to acute and chronic exercise in McArdle patients

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico

Genotype modulators of clinical severity in McArdle disease.

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

artículo científico publicado en 2018

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

artículo científico publicado en 2022

Impact of the mitochondrial genetic background in complex III deficiency

artículo científico publicado en 2010

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 1999

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Missense mutations have unexpected consequences: The McArdle disease paradigm

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Mitochondrial disorders due to nuclear OXPHOS gene defects.

artículo científico publicado en 2009

Mitochondrial respiratory chain dysfunction: implications in neurodegeneration.

artículo científico

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.

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2001

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Non-osteogenic muscle hypertrophy in children with McArdle disease.

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Novel mutation in the PYGM gene resulting in McArdle disease.

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Renal pathology in children with mitochondrial diseases

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Retrospective natural history of thymidine kinase 2 deficiency.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

artículo científico publicado en 2000

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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.

artículo científico publicado en 2002

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2001

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Understanding mitochondrial diseases

artículo científico publicado en 2017

When should a nephrologist suspect a mitochondrial disease?

artículo científico publicado en 2015

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

artículo científico publicado en 2013

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015