Associated Papers
Camptocormia as a feature of Mc Ardle's disease: A case report.
Nicolas M et al.
Molecular Genetics and Metabolism Reports, 2025
Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.
Stalter J et al.
Journal of Medical Case Reports, 2024
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.
Famili DT et al.
Neuromuscular Disorders : Nmd, 2023
Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.
Unger A et al.
International Journal of Molecular Sciences, 2023
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.
Joshi PR et al.
Biomedicines, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Mahroo OA et al.
Ophthalmology, 2019
Missense mutations have unexpected consequences: The McArdle disease paradigm.
García-Consuegra I et al.
Human Mutation, 2018
Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.
Nabavi Nouri M et al.
Clinical Case Reports, 2018
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
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
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Duno M et al.
Annals of Human 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
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
Aquaron R et al.
Neuromuscular Disorders : Nmd, 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