Gianina Ravenscroft
University of Western Australia
107 papers found
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The genetic landscape of axonal neuropathies in the middle-aged and elderly
UploadA novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Download from academic.oup.comA Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
UploadOvine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Download from doi.orgA homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
UploadTargeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Download from doi.orgTargeted gene panel use in 2249 neuromuscular patients
UploadCerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
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