Balance function assessment and management GP Jacobson, NT Shepard, K Barin, K Janky, DL McCaslin plural publishing, 2020 | 287 | 2020 |
Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics 105 (1), 151-165, 2019 | 239 | 2019 |
Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome DJ Szmulewicz, JA Waterston, GM Halmagyi, S Mossman, AM Chancellor, ... Neurology 76 (22), 1903-1910, 2011 | 182 | 2011 |
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video‐oculographic diagnosis DJ Szmulewicz, JA Waterston, HG MacDougall, S Mossman, ... Annals of the New York Academy of Sciences 1233 (1), 139-147, 2011 | 174 | 2011 |
Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) DJ Szmulewicz, L Roberts, CA McLean, HG MacDougall, GM Halmagyi, ... Neurology: Clinical Practice 6 (1), 61-68, 2016 | 145 | 2016 |
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 H Rafehi, J Read, DJ Szmulewicz, KC Davies, P Snell, LG Fearnley, ... The American Journal of Human Genetics 110 (1), 105-119, 2023 | 140 | 2023 |
Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS DJ Szmulewicz, CA McLean, ML Rodriguez, AM Chancellor, S Mossman, ... Neurology 82 (16), 1410-1415, 2014 | 123 | 2014 |
CANVAS an update: clinical presentation, investigation and management DJ Szmulewicz, CA McLean, HG MacDougall, L Roberts, E Storey, ... Journal of vestibular research 24 (5-6), 465-474, 2014 | 105 | 2014 |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report DJ Szmulewicz, SN Merchant, GM Halmagyi Otology & Neurotology 32 (8), e63-e65, 2011 | 78 | 2011 |
Clinical characteristics and treatment choice in vestibular migraine L Power, W Shute, B McOwan, K Murray, D Szmulewicz Journal of Clinical Neuroscience 52, 50-53, 2018 | 68 | 2018 |
The video head impulse test (vHIT) IS Curthoys, HG MacDougall, LA McGarvie, KP Weber, D Szmulewicz, ... Balance function assessment and management, 391-430, 2014 | 60 | 2014 |
Characteristics of assessment and treatment in benign paroxysmal positional vertigo (BPPV) L Power, K Murray, DJ Szmulewicz Journal of Vestibular Research 30 (1), 55-62, 2020 | 56 | 2020 |
Auditory neuropathy in individuals with Type 1 diabetes G Rance, D Chisari, F O’Hare, L Roberts, J Shaw, K Jandeleit-Dahm, ... Journal of neurology 261, 1531-1536, 2014 | 52 | 2014 |
Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome DJ Szmulewicz, L Seiderer, GM Halmagyi, E Storey, L Roberts Muscle & Nerve 51 (4), 600-603, 2015 | 50 | 2015 |
Quantitative assessment of cerebellar ataxia, through automated limb functional tests R Krishna, PN Pathirana, M Horne, L Power, DJ Szmulewicz Journal of neuroengineering and rehabilitation 16, 1-15, 2019 | 49 | 2019 |
Quantification of axial abnormality due to cerebellar ataxia with inertial measurements N Nguyen, D Phan, PN Pathirana, M Horne, L Power, D Szmulewicz Sensors 18 (9), 2791, 2018 | 45 | 2018 |
Consensus on virtual management of vestibular disorders: urgent versus expedited care AG Shaikh, A Bronstein, S Carmona, YH Cha, C Cho, FF Ghasia, D Gold, ... The Cerebellum 20, 4-8, 2021 | 43 | 2021 |
A random forest approach for quantifying gait ataxia with truncal and peripheral measurements using multiple wearable sensors D Phan, N Nguyen, PN Pathirana, M Horne, L Power, D Szmulewicz IEEE Sensors Journal 20 (2), 723-734, 2019 | 40 | 2019 |
RFC1-Related Disease: Molecular and Clinical Insights K Davies, DJ Szmulewicz, LA Corben, M Delatycki, PJ Lockhart Neurology: Genetics 8 (5), e200016, 2022 | 36 | 2022 |
Objective assessment of cerebellar ataxia: A comprehensive and refined approach B Kashyap, D Phan, PN Pathirana, M Horne, L Power, D Szmulewicz Scientific reports 10 (1), 9493, 2020 | 30 | 2020 |