Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

No abstract is available for this paper.

• Publication year

  2016

• Venue

  Journal of Neuropathology and Experimental Neurology

• Publication date

  2016-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/jnen/nlw018PMID 27030740
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• looking for a compensation mechanism in McArdle disease

  2015cited by this paper
• Pathological characteristics of glycogen storage disease III in skeletal muscle.

  2015cited by this paper
• 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

  2015cited by this paper
• Investigating sodium valproate as a treatment for McArdle disease in sheep.

  2015cited by this paper
• Severe axial myopathy in McArdle disease.

  2014cited by this paper
• Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease.

  2014cited by this paper
• A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease

  2012cited by this paper
• Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

  2012cited by this paper
• Single fiber analyses of glycogen-related proteins reveal their differential association with glycogen in rat skeletal muscle.

  2012influential reference
• Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

  2012cited by this paper
• Fiber types in mammalian skeletal muscles.

  2011influential reference
• McArdle disease: a clinical review

  2010cited by this paper
• McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

  2006cited by this paper
• Functional polymorphisms in dopamine and serotonin pathway genes

  2006cited by this paper
• The effect of oral sucrose on exercise tolerance in patients with McArdle's disease.

  2003cited by this paper
• Role of 5′AMP‐activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease

  2002cited by this paper
• McArdle's Disease: The Unsolved Mystery of the Reappearing Enzyme

  1999cited by this paper
• Effects of reduced muscle glycogen concentration on force, Ca2+ release and contractile protein function in intact mouse skeletal muscle.

  1997cited by this paper
• Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).

  1993cited by this paper
• McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.

  1993cited by this paper
• Effect of deficient muscular glycogenolysis on extramuscular fuel production in exercise.

  1992cited by this paper
• THE mdx MOUSE SKELETAL MUSCLE MYOPATHY: I. A HISTOLOGICAL, MORPHOMETRIC AND BIOCHEMICAL INVESTIGATION

  1988cited by this paper
• McArdle disease

  1979cited by this paper
• Fuel homeostasis in exercise.

  1975cited by this paper
• Contracture of phosphorylase deficient muscle.

  1968cited by this paper
• MYOPATHY DUE TO A DEFECT IN MUSCLE GLYCOGEN BREAKDOWN

  1951cited by this paper

• 281st ENMC international workshop: 2nd ENMC workshop on exercise training in muscle diseases; towards consensus-based recommendations on exercise prescription and outcome measures. Hoofddorp, The Netherlands, 4-6 October 2024.

  2025cites this paper
• Metabolic aspects of glycogenolysis with special attention to McArdle disease.

  2024cites this paper
• Aerobic capacity and muscle proteome: Insights from a mouse model

  2024cites this paper
• Slow or fast: Implications of myofibre type and associated differences for manifestation of neuromuscular disorders

  2023cites this paper
• Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy.

  2023cites this paper
• Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

  2022cites this paper
• Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

  2022cites this paper
• Muscle MRI in McArdle Disease

  2022cites this paper
• Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

  2022cites this paper
• No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial

  2021cites this paper
• Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

  2021influential citation
• Extreme Hypoxia Causing Brady-Arrythmias During Apnea in Elite Breath-Hold Divers

  2021cites this paper
• Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?

  2021cites this paper
• Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

  2020cites this paper
• Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance

  2020cites this paper
• New Surgical Model for Bone–Muscle Injury Reveals Age and Gender-Related Healing Patterns in the 5 Lipoxygenase (5LO) Knockout Mouse

  2020cites this paper
• Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

  2020cites this paper
• Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

  2019cites this paper
• Københavns Universitet Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle

  2019cites this paper
• POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

  2019cites this paper
• Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

  2019cites this paper
• Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics‐based analysis in the McArdle mouse model

  2018cites this paper
• Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole‐body homeostasis

  2018cites this paper
• Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

  2018cites this paper
• Glycogen Synthesis in Glycogenin 1–Deficient Patients: A Role for Glycogenin 2 in Muscle

  2017cites this paper
• Quantification of Cardiomyocyte Alignment from Three-Dimensional (3D) Confocal Microscopy of Engineered Tissue

  2017cites this paper
• Differential glucose metabolism in mice and humans affected by McArdle disease.

  2016cites this paper