Gianina Ravenscroft
University of Western Australia
107 papers found
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A CMT family with AD and AR inheritance of a MME variant
UploadRecessive MYH7-related myopathy in two families
UploadAltered myogenesis and premature senescence underlie human TRIM32-related myopathy
Download from doi.orgBiallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Download from doi.orgRecent advances in understanding congenital myopathies
Download from doi.orgCongenital Titinopathy: Comprehensive characterization and pathogenic insights
UploadRyanodine receptor type 3 (RYR3 ) as a novel gene associated with a myopathy with nemaline bodies
UploadMutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
UploadBi-allelic mutations in MYL1 cause a severe congenital myopathy
UploadWhat prospective parents need to know about gene tests such as ‘prepair’
UploadTOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor
UploadAtp1a1 Represents a Significant Novel Dominant Cmt2 Gene
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