Wai Yan Yau

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Obsessive Compulsive Disorder

Dna Methylation

Deep Brain Stimulation

Top Venues

Annals of clinical and translational neurology

Neurology. Genetics

Annals of neurology

Journal of neurology, neurosurgery, and psychiatry

This page only lists publications with an associated author ORCID identifier.

Publications

Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation. Annals of clinical and translational neurology (2024)
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation. Annals of clinical and translational neurology 11 (6) (2024)
Lisa Hui, Pema Hayman, Ali Buckland, Michael Collingwood Fahey, David A Mackey, Andrew John Mallett, Daniel R Schweitzer, Clare P Stuart, Wai Yan Yau, John Chrisodoulou
Pregnancy in women with mitochondrial disease-A literature review and suggested guidance for preconception and pregnancy care. The Australian & New Zealand journal of obstetrics & gynaecology (2024)
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation. Annals of clinical and translational neurology 11 (6) (2024)
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation. Annals of clinical and translational neurology 11 (6) (2024)
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation. Annals of clinical and translational neurology 11 (6) (2024)
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Jana Vandrovcova, Wai Yan Yau, Jae So Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. Neurology. Genetics 10 (3) (2024)
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Jana Vandrovcova, Wai Yan Yau, Jae So Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. Neurology. Genetics 10 (3) (2024)
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Jana Vandrovcova, Wai Yan Yau, Jae So Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study. Neurology. Genetics 10 (3) (2024)
Roisin Sullivan, Wai Yan Yau, Viorica Chelban, Salvatore Rossi, Natalia Dominik, Emer O'Connor, John Hardy, Nicholas Wood, Andreas Cortese, Henry Houlden
RFC1-related ataxia is a mimic of early multiple system atrophy. Journal of neurology, neurosurgery, and psychiatry (2021)
Wai Yan Yau, Zhongbo Chen, Roisin Sullivan, Jana Vandrovcova, Henry Houlden
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant? Annals of clinical and translational neurology 8 (4) (2021)
Wai Yan Yau, Roisin Sullivan, Clarissa Rocca, Elisa Cali, Jana Vandrovcova, Nicholas W Wood, Henry Houlden
NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent. Annals of neurology 89 (3) (2021)
Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A Gagliano Taliun, Chris Turner, Stephanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou-Fragkouli, Thomas Bourinaris, David Zhang, Tamas Revesz, Tammaryn Lashley, Michael DeTure, Gourisankar Ghosh, Keith Anthony Josephs, Ellen Gelpi, Gábor G Kovács, Glenda Halliday, Dominic B Rowe, Ian Blair, Pentti J Tienari, Anu Suomalainen, Nick C Fox, Nicholas W Wood, Andrew J Lees, Matti J Haltia, null null, John Hardy, Mina Ryten, Jana Vandrovcova, Henry Houlden
Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of clinical and translational neurology 7 (9) (2020)
Wai Yan Yau, Roisin Sullivan, Zhongbo Chen, David S Lynch, Jana Vandrovcova, Nicholas W Wood, Henry Houlden
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy. Annals of neurology 88 (3) (2020)
Wai Yan Yau, Marzena J Fabis-Pedrini, Allan G Kermode
Fabry heterozygote mimicking multiple sclerosis. BMJ case reports 2017 (2017)