Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra I et al.
International Journal of Molecular Sciences, 2022
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
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
Park HJ et al.
Clinical Genetics, 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
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
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
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