W

Researcher Profile

Wai Yan Yau

3

Publications

801

Citations

10

Co-Authors

2

Active Years

Publications

Open Access Journal Article Brain Feb 01, 2020

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese · Stefano Tozza · Wai Yan Yau · Salvatore Rossi +38 more

10.1093/brain/awz418 207 citations

Journal Article Brain Oct 01, 2020

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K Scriba · Sarah J Beecroft · Joshua S Clayton · Andrea Cortese +16 more

10.1093/brain/awaa263 89 citations

Journal Article Nature Genetics Mar 29, 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese · Roberto Simone · Roisin Sullivan · Jana Vandrovcova +26 more

10.1038/s41588-019-0372-4 505 citations

Publication Timeline

2020

2

2019

1

Frequent Co-Authors

Roisin Sullivan

Grazia Devigili

Phillipa J Lamont

Stephan Züchner

Gianina Ravenscroft

Stephanie Efthymiou