Associated Papers
Investigating the genetic susceptibility to exertional heat illness.
Gardner L et al.
Journal of Medical Genetics, 2020
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Qin L et al.
The Journal of Molecular Diagnostics : Jmd, 2016
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
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
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
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
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