Gianina Ravenscroft
University of Western Australia
107 papers found
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Download from doi.orgCardiac -actin over-expression therapy in dominant ACTA1 disease
Download from academic.oup.comSkeletal muscle α-actin diseases (actinopathies): Pathology and mechanisms
Download from link.springer.comNemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation
Download from www.researchgate.netMutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
Download from doi.orgDominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
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