Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

(2012) Alejandro Lucia et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations

(2011) Irene Vieitez et al.   NEUROMUSCULAR DISORDERS

McArdle disease: a clinical review

(2010) R. Quinlivan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease

(2009) J. Vissing et al.   BRAIN

Permanent muscle weakness in MCArdle disease

(2009) Aleksandra A. Nadaj-Pakleza et al.   MUSCLE & NERVE

Activated Protein C is Neuroprotective and Mediates New Blood Vessel Formation and Neurogenesis After Controlled Cortical Impact

(2009) Anthony L. Petraglia et al.   NEUROSURGERY

The Glucagon-Like Peptide-1 Receptor Regulates Endogenous Glucose Production and Muscle Glucose Uptake Independent of Its Incretin Action

(2008) Julio E. Ayala et al.   ENDOCRINOLOGY

McArdle disease: what do neurologists need to know?

(2008) Alejandro Lucia et al.   Nature clinical practice. Neurology

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

(2007) Gisela Nogales-Gadea et al.   HUMAN MUTATION