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
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
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
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
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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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
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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Journal Article
Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Szmulewicz, David J., Seiderer, Linda, Halmagyi, G. Michael, Storey, Elsdon, Roberts, Leslie
Published in Muscle & nerve (01.04.2015)
Published in Muscle & nerve (01.04.2015)
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Journal Article
Quantification of Axial Abnormality Due to Cerebellar Ataxia with Inertial Measurements
Nguyen, Nhan, Phan, Dung, Pathirana, Pubudu N, Horne, Malcolm, Power, Laura, Szmulewicz, David
Published in Sensors (Basel, Switzerland) (24.08.2018)
Published in Sensors (Basel, Switzerland) (24.08.2018)
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Journal Article
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/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 (01.06.2023)
Published in American journal of human genetics (01.06.2023)
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Journal Article
Balance Deficits due to Cerebellar Ataxia: A Machine Learning and Cloud-Based Approach
Ngo, Thang, Pathirana, Pubudu N., Horne, Malcolm K., Power, Laura, Szmulewicz, David J., Milne, Sarah C., Corben, Louise A., Roberts, Melissa, Delatycki, Martin B.
Published in IEEE transactions on biomedical engineering (01.05.2021)
Published in IEEE transactions on biomedical engineering (01.05.2021)
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Journal Article
Objective Assessment of Progression and Disease Characterization of Friedreich Ataxia via an Instrumented Drinking Cup: Preliminary Results
Krishna, Ragil, Pathirana, Pubudu N., Horne, Malcolm K., Szmulewicz, David J., Corben, Louise A.
Published in IEEE transactions on neural systems and rehabilitation engineering (2021)
Published in IEEE transactions on neural systems and rehabilitation engineering (2021)
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