Showing results (11-20 of 19) with videos related to
Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 7, 2020
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement DisordersWai Yan Yau, Jana Vandrovcova, Roisin Sullivan, et al.Brain : a Journal of Neurology|August 28, 2020
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder alleleSarah J Beecroft, Andrea Cortese, Roisin Sullivan, et al.Neurology. Genetics|May 23, 2024
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide StudySeungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.Nature Genetics|April 28, 2019
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.Annals of Clinical and Translational Neurology|August 11, 2020
Neuronal intranuclear inclusion disease is genetically heterogeneousZhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, et al.Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.Pageof 2