Associated Papers
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Da Silva JD et al.
Pediatric Research, 2024
A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis.
Teles JS et al.
Cureus, 2023
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene.
Cerrada V et al.
Biomedicines, 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
[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].
Vidal-Sanahuja R et al.
Revista De Neurologia, 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
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.
Iacono S et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
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
Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.
Cerrada V et al.
Stem Cell Research, 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
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
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
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Maltese PE et al.
Genetics and Molecular Research : Gmr, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
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
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
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
Permanent muscle weakness in McArdle disease.
Nadaj-Pakleza AA et al.
Muscle & Nerve, 2009
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?
González-Freire M et al.
Neuromuscular Disorders : Nmd, 2009
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
García-Consuegra I et al.
Journal of Medical Genetics, 2009
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
Nogales-Gadea G et al.
Human Mutation, 2008
The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease.
Lucia A et al.
Neuromuscular Disorders : Nmd, 2007
Genotype modulators of clinical severity in McArdle disease.
Rubio JC et al.
Neuroscience Letters, 2007
McArdle disease: molecular genetic update.
Andreu AL et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Deschauer M et al.
Journal of Neurology, 2007
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
Molecular genetics of McArdle's disease.
Nogales-Gadea G et al.
Current Neurology and Neuroscience Reports, 2007
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C et al.
Human Mutation, 2006
[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].
Fernandez-Cadenas I et al.
Revista De Neurologia, 0
Glycogen storage disease type V (Mc Ardle's disease): a report on three cases.
Krishnamoorthy N et al.
Neurology India, 0