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A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol (2014) 1.03

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hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00

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Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibers. Am J Pathol (2011) 0.84

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord (2011) 0.84

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Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. Pediatr Neurol (2012) 0.82

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IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Neuromuscul Disord (2005) 0.82

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Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. Neuromuscul Disord (2009) 0.79

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Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. Neuromuscul Disord (2012) 0.78

Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis. Chem Biol Interact (2012) 0.78

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Titinopathies: what happens when a big gene mutates in a big family? Neurology (2005) 0.75

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A 46-year-old woman with severe weakness following acute respiratory distress syndrome. Neurology (2007) 0.75