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Parkinsonism & Related Disorders|May 8, 2024
PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case reportWai Yan Yau, Srimathy Vijayan, Gianina Ravenscroft
Journal of Neurology|October 5, 2018
Spinocerebellar ataxia: an updateRoisin Sullivan, Wai Yan Yau, Emer O'Connor, et al.
BMJ Case Reports|June 4, 2017
Fabry heterozygote mimicking multiple sclerosisWai Yan Yau, Marzena J Fabis-Pedrini, Allan G Kermode
NPJ Parkinson'S Disease|March 4, 2025
A personalised and comprehensive approach is required to suppress or replenish SNCA for Parkinson's diseaseDunhui Li, Wai Yan Yau, Shengdi Chen, et al.
The FEBS Journal|August 29, 2018
DNA repair in trinucleotide repeat ataxiasWai Yan Yau, Emer O'Connor, Roisin Sullivan, et al.
Practical Neurology|August 14, 2021
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspectsAndrea Cortese, Riccardo Curro', Elisa Vegezzi, et al.
Annals of Clinical and Translational Neurology|May 3, 2024
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulationWai Yan Yau, Catherine Ashton, Eoin Mulroy, et al.
The Psychiatric Quarterly|October 18, 2018
Psychometric Testing of Three Chinese Online-Related Addictive Behavior Instruments among Hong Kong University StudentsChun-Wai Yam, Amir H Pakpour, Mark D Griffiths, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology|September 11, 2024
Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy careLisa Hui, Pema Hayman, Ali Buckland, et al.
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