Associated Papers
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
Villarreal-Salazar M et al.
Genes, 2021
Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.
Lorenzoni PJ et al.
Acta Neurologica Belgica, 2020
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
Genetic testing for phenotype-causing variants in sheep and goats.
Lühken G
Molecular and Cellular Probes, 2012
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C et al.
Human Mutation, 2006
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