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A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.
Academic Article
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Cardiomyopathy of limb-girdle muscular dystrophy.
Academic Article
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Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B.
Academic Article
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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Academic Article
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Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A).
Academic Article
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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Academic Article
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Precise therapeutic gene correction by a simple nuclease-induced double-stranded break.
Academic Article
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Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
Academic Article
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