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Found 10 publications

Combined high flow nasal cannula and negative pressure ventilation as a novel respiratory approach in a patient with acute respiratory failure and limb-girdle muscular dystrophy.

Anti-HMGCR antibodies and asymptomatic hyperCKemia. A case report.

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.

TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports.

Structure, function, and pathology of protein O-glucosyltransferases.

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.

Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

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