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27 results on '"Lemckert, Frances A."'

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1. Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

2. A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre

3. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

4. Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy

6. Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor

9. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

10. Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

16. Divergent Regulation of the Sarcomere and the Cytoskeleton

17. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

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