David J. Szmulewicz

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 164 citations · Full text

Life Sciences, Neurology, Neuroscience +10

Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome

David J. Szmulewicz, John Waterston, G. Michael Halmágyi et al. · Neurology · 2011 · 147 citations · Full text

Medicine, Neurology, Neuroscience +16

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

David J. Szmulewicz, Catriona McLean, Michael Rodriguez et al. · Neurology · 2014 · 125 citations · Full text

Medicine, Neurology, Neuroscience +17

Characteristics of assessment and treatment in Benign Paroxysmal Positional Vertigo (BPPV)

Laura Power, Katherine J. Murray, David J. Szmulewicz · Journal of Vestibular Research · 2019 · 82 citations · Full text

Medicine, Otolaryngology, Otology +12