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

Human mutation, 2015-07, Vol.36 (7), p.669-678

2015

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The Second Wind in McArdle Patients: Fitness Matters

Frontiers in physiology, 2021-10, Vol.12, p.744632-744632

2021

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Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

Journal of neuropathology and experimental neurology, 2016-05, Vol.75 (5), p.441-454

2016

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Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

The Journal of physiology, 2023-02, Vol.601 (3), p.551-566

2023

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McArdle Disease: A Unique Study Model in Sports Medicine

Sports medicine (Auckland), 2014-11, Vol.44 (11), p.1531-1544

2014

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Long-term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

Medicine and science in sports and exercise, 2022-08, Vol.54 (8), p.1231-1241

2022

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Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

Clinical nutrition (Edinburgh, Scotland), 2024-03, Vol.43 (3), p.692-700

2024

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Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance

Frontiers in neurology, 2020-06, Vol.11, p.541-541

2020

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Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

Journal of neuropathology and experimental neurology, 2016-05, Vol.75 (5), p.441-454

2016

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

The Journal of physiology, 2015-06, Vol.593 (12), p.2693-2706

2015

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Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse

Molecular genetics and metabolism, 2018-01, Vol.123 (1), p.21-27

2018

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

Brain (London, England : 1878), 2012-07, Vol.135 (Pt 7), p.2048-2057

2012

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Exercise and Preexercise Nutrition as Treatment for McArdle Disease

Medicine and science in sports and exercise, 2016-04, Vol.48 (4), p.673-679

2016

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Growth Factors Do Not Improve Muscle Function in Young or Adult mdx Mice

Biomedicines, 2022-01, Vol.10 (2), p.304

2022

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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

Disease models & mechanisms, 2015-05, Vol.8 (5), p.467-472

2015

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Differential glucose metabolism in mice and humans affected by McArdle disease

American journal of physiology. Regulatory, integrative and comparative physiology, 2016-08, Vol.311 (2), p.R307-R314

2016

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The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.221-230

2015

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Genes and exercise intolerance: insights from McArdle disease

Physiological genomics, 2016-02, Vol.48 (2), p.93-100

2016

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

Genetics in medicine, 2015-08, Vol.17 (8), p.679-680

2015

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Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies

Neuromuscular disorders : NMD, 2018-02, Vol.28 (2), p.137-143

2018

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Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life

Journal of neuromuscular diseases, 2024-01, Vol.11 (1), p.103-116

2024

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Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome

Biochimica et biophysica acta. Molecular basis of disease, 2017-01, Vol.1863 (1), p.182-187

2017

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Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants – Response

Neuromuscular disorders : NMD, 2018-04, Vol.28 (4), p.374-375

2018

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

Muscle & nerve, 2015-12, Vol.52 (6), p.1136-1137

2015

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

Genetics in medicine, 2016-11, Vol.18 (11), p.1128-1135

2016

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

The Second Wind in McArdle Patients: Fitness Matters

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

McArdle Disease: A Unique Study Model in Sports Medicine

Long-term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

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

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse

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

Exercise and Preexercise Nutrition as Treatment for McArdle Disease

Growth Factors Do Not Improve Muscle Function in Young or Adult mdx Mice

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

Differential glucose metabolism in mice and humans affected by McArdle disease

The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications

Genes and exercise intolerance: insights from McArdle disease

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

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies

Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants – Response

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

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

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