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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.Plos One|March 10, 2020
An optimised saliva collection method to produce high-yield, high-quality RNA for translational researchRoisin Sullivan, Susan Heavey, David G Graham, et al.Plos One|May 19, 2025
Vibrio harveyi plasmids as drivers of virulence in barramundi (Lates calcarifer)Roisin Sullivan, Joy A Becker, Ruth N Zadoks, 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.NPJ Parkinson'S Disease|May 24, 2024
Profiling complex repeat expansions in RFC1 in Parkinson's diseasePilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, 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|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.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.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 3