McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

Cardiorespiratory Fitness, Physical Activity, and Quality of Life in Patients with McArdle Disease

(2015) DIEGO MUNGUÍA-IZQUIERDO et al.   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications

(2014) Gisela Nogales-Gadea et al.   JOURNAL OF INHERITED METABOLIC DISEASE

McArdle Disease: A Unique Study Model in Sports Medicine

(2014) Alfredo Santalla et al.   SPORTS MEDICINE

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits

(2014) Alfredo Santalla et al.   Frontiers in Aging Neuroscience

Clinical and Molecular Characterization of Mcardle’s Disease in Brazilian Patients

(2013) Juliana Gurgel-Giannetti et al.   NEUROMOLECULAR MEDICINE

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

(2012) Gisela Nogales-Gadea et al.   BRAIN

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

(2012) Jing Wang et al.   GENETICS IN MEDICINE

Resistance (Weight Lifting) Training in an Adolescent With McArdle Disease

(2012) Sergio García-Benítez et al.   JOURNAL OF CHILD NEUROLOGY

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

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

McArdle disease: A novel mutation in Jewish families from the Caucasus region

(2012) Yishai Haimi Cohen et al.   MOLECULAR GENETICS AND METABOLISM

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

(2012) Kathryn E. Birch et al.   NEUROMUSCULAR DISORDERS

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)

(2011) F. Miteff et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

(2011) Y. Wu et al.   MOLECULAR GENETICS AND METABOLISM

Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

(2011) Shinya Sato et al.   MUSCLE & NERVE

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

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

(2010) Gisela Nogales-Gadea et al.   PLoS One

High-resolution Melting Facilitates Mutation Screening ofPYGMin Patients with McArdle Disease

(2009) Morten Duno et al.   ANNALS OF HUMAN GENETICS

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

(2009) J. Vissing et al.   BRAIN

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

(2009) I Garcia-Consuegra et al.   JOURNAL OF MEDICAL GENETICS

Permanent muscle weakness in MCArdle disease

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

Effect of Oral Sucrose Shortly Before Exercise on Work Capacity in McArdle Disease

(2008) Susanne Tvede Andersen et al.   ARCHIVES OF NEUROLOGY

Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity

(2008) S T Andersen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novel PYGM mutation in a Korean patient with McArdle disease: The role of nonsense-mediated mRNA decay

(2008) Eun Hee Sohn et al.   NEUROMUSCULAR DISORDERS

One-Year Follow-Up in a Child With McArdle Disease: Exercise is Medicine

(2008) Margarita Pérez et al.   PEDIATRIC NEUROLOGY

Maladie de McArdle (glycogénose de type V) : étude clinique, biochimique et génétique d’une cohorte de cinq patients français

(2008) E. Delmont et al.   REVUE NEUROLOGIQUE

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

Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease

(2007) Andrea Martinuzzi et al.   MUSCLE & NERVE