Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS
Szmulewicz, David J, McLean, Catriona A, Rodriguez, Michael L, Chancellor, Andrew M, Mossman, Stuart, Lamont, Duncan, Roberts, Leslie, Storey, Elsdon, Halmagyi, G Michael
Published in Neurology (22.04.2014)
Published in Neurology (22.04.2014)
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Journal Article
Machine Learning Based Scoring System to Predict the Risk and Severity of Ataxic Speech Using Different Speech Tasks
Kashyap, Bipasha, Pathirana, Pubudu N., Horne, Malcolm, Power, Laura, Szmulewicz, David J
Published in IEEE transactions on neural systems and rehabilitation engineering (01.01.2023)
Published in IEEE transactions on neural systems and rehabilitation engineering (01.01.2023)
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Journal Article
Quantitative Evaluation of Cerebellar Ataxia Through Automated Assessment of Upper Limb Movements
Tran, Ha, Pathirana, Pubudu N., Horne, Malcolm, Power, Laura, Szmulewicz, David J.
Published in IEEE transactions on neural systems and rehabilitation engineering (01.05.2019)
Published in IEEE transactions on neural systems and rehabilitation engineering (01.05.2019)
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Journal Article
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data
Rafehi, Haloom, Szmulewicz, David J., Pope, Kate, Wallis, Mathew, Christodoulou, John, White, Susan M., Delatycki, Martin B., Lockhart, Paul J., Bahlo, Melanie
Published in Movement disorders (01.09.2020)
Published in Movement disorders (01.09.2020)
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Journal Article
Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor
Ngo, Thang, Nguyen, Dinh C., Pathirana, Pubudu N., Corben, Louise A., Delatycki, Martin B., Horne, Malcolm, Szmulewicz, David J., Roberts, Melissa
Published in IEEE transactions on neural systems and rehabilitation engineering (2022)
Published in IEEE transactions on neural systems and rehabilitation engineering (2022)
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Journal Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis
Szmulewicz, David J., Waterston, John A., MacDougall, Hamish G., Mossman, Stuart, Chancellor, Andrew M., McLean, Catriona A., Merchant, Saumil, Patrikios, Peter, Halmagyi, G. Michael, Storey, Elsdon
Published in Annals of the New York Academy of Sciences (01.09.2011)
Published in Annals of the New York Academy of Sciences (01.09.2011)
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A comprehensive scheme for the objective upper body assessments of subjects with cerebellar ataxia
Tran, Ha, Nguyen, Khoa D, Pathirana, Pubudu N, Horne, Malcolm K, Power, Laura, Szmulewicz, David J
Published in Journal of neuroengineering and rehabilitation (04.12.2020)
Published in Journal of neuroengineering and rehabilitation (04.12.2020)
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Technological Evolution in the Instrumentation of Ataxia Severity Measurement
Ngo, Thang, Pathirana, Pubudu N., Horne, Malcolm K., Corben, Louise A., Harding, Ian H., Szmulewicz, David J.
Published in IEEE access (01.01.2023)
Published in IEEE access (01.01.2023)
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Journal Article
Characteristics of assessment and treatment in Benign Paroxysmal Positional Vertigo (BPPV)
Power, Laura, Murray, Katherine, Szmulewicz, David J
Published in Journal of vestibular research (01.01.2020)
Published in Journal of vestibular research (01.01.2020)
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Journal Article
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
Rafehi, Haloom, Read, Justin, Szmulewicz, David J, Davies, Kayli C, Snell, Penny, Fearnley, Liam G, Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F, Munro, Jacob E, Ngo, Kathie J, Chen, Luke, Wallis, Mathew J, Butler, Ernest G, Kumar, Kishore R, Wu, Kathy Hc, Tomlinson, Susan E, Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A, Roberts, Leslie J, Fogel, Brent L, Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B, Bahlo, Melanie, Lockhart, Paul J
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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Journal Article
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Journal Article
Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B
Borsche, Max, Thomsen, Mirja, Szmulewicz, David J., Lübbers, Bente, Hinrichs, Frauke, Lockhart, Paul J., Lohmann, Katja, Helmchen, Christoph, Brüggemann, Norbert
Published in Journal of neurology (01.02.2024)
Published in Journal of neurology (01.02.2024)
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