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Brain, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2847 - 2858
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 2139 - 10
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2018, Volume 41, Issue 6, pp. 1027 - 1035
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of... 
RELIABILITY | UPDATE | PYGM MUTATIONS | PAIN | WINGATE ANAEROBIC TEST | GENE | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY
Journal Article
European Journal of Neurology, ISSN 1351-5101, 07/2015, Volume 22, Issue 7, pp. 1056 - 1061
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2014, Volume 73, Issue Suppl 2, pp. 1017 - 1018
Background Myositis-specific auto-antibodies (Ab) include those directed against aminoacyl-tRNA synthetases (ARS), signal recognition particle (SRP) and... 
Journal Article
Journal Article
Medicine & Science in Sports & Exercise, ISSN 0195-9131, 04/2016, Volume 48, Issue 4, pp. 673 - 679
Journal Article
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 07/2019, Volume 6, Issue 7, pp. 1214 - 1224
Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in... 
FEATURE-SELECTION | SKELETAL-MUSCLE | DYSTROPHY | QUANTITATIVE PCR | PLASMA MICRORNAS | MIR-206 | ENZYME REPLACEMENT THERAPY | EXPRESSION | NEUROSCIENCES | CLINICAL NEUROLOGY | Musculoskeletal system | Enzymes | Statistical analysis | Cardiomyopathy | Biopsy | MicroRNAs | Biomarkers | Muscle function | Mutation | Gene expression | Patients
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2016, Volume 11, Issue 10, p. e0163493
Journal Article