Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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
[McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
Delmont E et al.
Revue Neurologique, 2008
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
Select a paper to view details