Psychometric Testing of Three Chinese Online-Related Addictive Behavior Instruments among Hong Kong University Students
Yam, Chun-Wai, Pakpour, Amir H., Griffiths, Mark D., Yau, Wai-Yan, Lo, Cheuk-Long Matthew, Ng, Jennifer M. T., Lin, Chung-Ying, Leung, Hildie
Published in Psychiatric quarterly (01.03.2019)
Published in Psychiatric quarterly (01.03.2019)
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Journal Article
Spinocerebellar ataxia: an update
Sullivan, Roisin, Yau, Wai Yan, O’Connor, Emer, Houlden, Henry
Published in Journal of neurology (01.02.2019)
Published in Journal of neurology (01.02.2019)
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Journal Article
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry
Published in Nature genetics (01.04.2019)
Published in Nature genetics (01.04.2019)
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Journal Article
Targeted Molecular Therapeutics for Parkinson's Disease: A Role for Antisense Oligonucleotides?
Li, Dunhui, Mastaglia, Frank L., Yau, Wai Yan, Chen, Shengdi, Wilton, Steve D., Akkari, Patrick A.
Published in Movement disorders (01.11.2022)
Published in Movement disorders (01.11.2022)
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Journal Article
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Beecroft, Sarah J, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y, Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G, Houlden, Henry, Reilly, Mary M, Roxburgh, Richard H
Published in Brain (London, England : 1878) (01.09.2020)
Published in Brain (London, England : 1878) (01.09.2020)
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Journal Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Journal Article
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy
Yau, Wai Yan, Sullivan, Roisin, Chen, Zhongbo, Lynch, David S., Vandrovcova, Jana, Wood, Nicholas W., Houlden, Henry
Published in Annals of neurology (01.09.2020)
Published in Annals of neurology (01.09.2020)
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Journal Article
RFC1-related ataxia is a mimic of early multiple system atrophy
Sullivan, Roisin, Yau, Wai Yan, Chelban, Viorica, Rossi, Salvatore, Dominik, Natalia, O'Connor, Emer, Hardy, John, Wood, Nicholas, Cortese, Andrea, Houlden, Henry
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.04.2021)
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Journal Article
DNA repair in trinucleotide repeat ataxias
Yau, Wai Yan, O'Connor, Emer, Sullivan, Roisin, Akijian, Layan, Wood, Nicholas W.
Published in The FEBS journal (01.10.2018)
Published in The FEBS journal (01.10.2018)
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Journal Article
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders
Yau, Wai Yan, Vandrovcova, Jana, Sullivan, Roisin, Chen, Zhongbo, Zecchinelli, Anna, Cilia, Roberto, Stefano, Duga, Murray, Malgorzata, Carmona, Susana, Chelban, Viorica, Ishiura, Hiroyuki, Tsuji, Shoji, Jaunmuktane, Zane, Turner, Chris, Wood, Nicholas W., Houlden, Henry
Published in Movement disorders (01.01.2021)
Published in Movement disorders (01.01.2021)
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Journal Article
Reply to: “Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions”
Sullivan, Roisin, Yau, Wai Yan, Chelban, Viorica, Rossi, Salvatore, O'Connor, Emer, Wood, Nicholas W., Cortese, Andrea, Houlden, Henry
Published in Movement disorders (01.10.2020)
Published in Movement disorders (01.10.2020)
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Journal Article
POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation
Yau, Wai Yan, Ashton, Catherine, Mulroy, Eoin, Foltynie, Thomas, Limousin, Patricia, Vandrovcova, Jana, Verma, Kunal P., Stell, Rick, Davis, Mark, Lamont, Phillipa
Published in Annals of clinical and translational neurology (01.06.2024)
Published in Annals of clinical and translational neurology (01.06.2024)
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Journal Article
Neuronal intranuclear inclusion disease is genetically heterogeneous
Chen, Zhongbo, Yan Yau, Wai, Jaunmuktane, Zane, Tucci, Arianna, Sivakumar, Prasanth, Gagliano Taliun, Sarah A., Turner, Chris, Efthymiou, Stephanie, Ibáñez, Kristina, Sullivan, Roisin, Bibi, Farah, Athanasiou‐Fragkouli, Alkyoni, Bourinaris, Thomas, Zhang, David, Revesz, Tamas, Lashley, Tammaryn, DeTure, Michael, Dickson, Dennis W., Josephs, Keith A., Gelpi, Ellen, Kovacs, Gabor G., Halliday, Glenda, Rowe, Dominic B., Blair, Ian, Tienari, Pentti J., Suomalainen, Anu, Fox, Nick C., Wood, Nicholas W., Lees, Andrew J., Haltia, Matti J., Hardy, John, Ryten, Mina, Vandrovcova, Jana, Houlden, Henry
Published in Annals of clinical and translational neurology (01.09.2020)
Published in Annals of clinical and translational neurology (01.09.2020)
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Journal Article
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
Luo, Huihui, Gustavsson, Emil K, Macpherson, Hannah, Dominik, Natalia, Zhelcheska, Kristina, Montgomery, Kylie, Anderson, Claire, Yau, Wai Yan, Efthymiou, Stephanie, Turner, Chris, DeTure, Michael, Dickson, Dennis W, Josephs, Keith A, Revesz, Tamas, Lashley, Tammaryn, Halliday, Glenda, Rowe, Dominic B, McCann, Emily, Blair, Ian, Lees, Andrew J, Tienari, Pentti J, Suomalainen, Anu, Molina-Porcel, Laura, Kovacs, Gabor G, Gelpi, Ellen, Hardy, John, Haltia, Matti J, Tucci, Arianna, Jaunmuktane, Zane, Ryten, Mina, Houlden, Henry, Chen, Zhongbo
Published in Acta neuropathologica communications (02.01.2024)
Published in Acta neuropathologica communications (02.01.2024)
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