Search Results - "Durban, Ashley N"
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Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
Published in Disease models & mechanisms (01-11-2012)“…Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is…”
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Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
Published in Human molecular genetics (15-02-2012)“…X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid…”
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Expression Pattern of Id Proteins in Medulloblastoma
Published in Pathology oncology research (01-07-2013)“…Inhibitor of DNA binding or inhibitor of differentiation (Id) proteins are up regulated in a variety of neoplasms, particularly in association with high-grade,…”
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