Associated Papers
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra I et al.
International Journal of Molecular Sciences, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
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
High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ et al.
Journal of Inherited Metabolic Disease, 2007
McArdle disease: molecular genetic update.
Andreu AL et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.
Aquaron R et al.
Journal of Human Genetics, 2007
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C et al.
Human Mutation, 2006
[Neurological, dermatological and biological manifestations of porphyria variegata. A study of 3 families of Italian origin in Marseilles area].
Aquaron R et al.
Revue Neurologique, 1992
[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].
Fernandez-Cadenas I et al.
Revista De Neurologia, 0