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Authors: Roisin Sullivan
Journal Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain, Volume 147, Issue 5, May 2024, Pages 1887–1898, https://doi.org/10.1093/brain/awad436
Published: 09 January 2024
Journal Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Brain, Volume 143, Issue 10, October 2020, Pages 2904–2910, https://doi.org/10.1093/brain/awaa263
Published: 25 October 2020
Journal Article
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Brain, Volume 143, Issue 9, September 2020, Pages 2673–2680, https://doi.org/10.1093/brain/awaa203
Published: 27 August 2020
Journal Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Brain, Volume 143, Issue 2, February 2020, Pages 480–490, https://doi.org/10.1093/brain/awz418
Published: 10 February 2020
