Sandra Cooper
0000-0002-7314-5097
University of Sydney
5 papers found
Refreshing results…
Lmod2 is necessary for effective skeletal muscle contraction
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
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