Associated Papers
Searching for Clues in the Diagnosis of McArdle Disease.
Uysal SP et al.
Cureus, 2025
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
McArdle's Disease: A Differential Diagnosis of Metabolic Myopathies.
Nascimento J et al.
Cureus, 2024
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Da Silva JD et al.
Pediatric Research, 2024
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L et al.
Jimd Reports, 2023
Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation.
Molenaar JP et al.
Neuromuscular Disorders : Nmd, 2023
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
Serrano-Lorenzo P et al.
Genes, 2022
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra I et al.
International Journal of Molecular Sciences, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Pizzamiglio C et al.
Journal of Inherited Metabolic Disease, 2021
Molecular diagnosis of McArdle disease using whole-exome sequencing.
Kang JH et al.
Experimental and Therapeutic Medicine, 2021
Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.
Migocka-Patrzałek M et al.
Cells, 2021
Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
Danti FR et al.
Frontiers in Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Scalco RS et al.
Orphanet Journal of Rare Diseases, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.
Lorenzoni PJ et al.
Acta Neurologica Belgica, 2020
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.
Joshi PR et al.
Biomedicines, 2020
The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.
Migocka-Patrzałek M et al.
The International Journal of Biochemistry & Cell Biology, 2020
PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.
Carvalho AAS et al.
Plos One, 2020
McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.
Llavero F et al.
International Journal of Molecular Sciences, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Pigment Nephropathy in a Patient With PYGM Gene Mutation.
Mamidi V et al.
Kidney International Reports, 2019
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Mahroo OA et al.
Ophthalmology, 2019
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J et al.
Journal of Inherited Metabolic Disease, 2018
Missense mutations have unexpected consequences: The McArdle disease paradigm.
García-Consuegra I et al.
Human Mutation, 2018
Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.
Balasubramanian M et al.
Molecular Genetics and Metabolism Reports, 2018
Clinical utility gene card for McArdle disease.
Taylor RL et al.
European Journal of Human Genetics : Ejhg, 2018
Metabolic myopathies: a practical approach.
Lilleker JB et al.
Practical Neurology, 2018
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G et al.
Neuromuscular Disorders : Nmd, 2017
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.
De Castro M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Nogales-Gadea G et al.
Human Mutation, 2015
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
Nogales-Gadea G et al.
Journal of Inherited Metabolic Disease, 2015
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.
Park HJ et al.
Journal of Korean Medical Science, 2014
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 2013
Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon.
Birch KE et al.
Neuromuscular Disorders : Nmd, 2013
Myopathic causes of exercise intolerance with rhabdomyolysis.
Quinlivan R et al.
Developmental Medicine and Child Neurology, 2012
McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Haimi Cohen Y et al.
Molecular Genetics and Metabolism, 2012
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
Lucia A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.
Nogales-Gadea G et al.
Plos One, 2012
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Vieitez I et al.
Neuromuscular Disorders : Nmd, 2011
McArdle disease: a clinical review.
Quinlivan R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms.
Capacchione JF et al.
Anesthesiology, 2010
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
Vissing J et al.
Brain : a Journal of Neurology, 2009