Szmulewicz DJ - Search Results

1

Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Halmagyi GM, Storey E. Szmulewicz DJ, et al. Neurol Clin Pract. 2016 Feb;6(1):61-68. doi: 10.1212/CPJ.0000000000000215. Neurol Clin Pract. 2016. PMID: 26918204 Free PMC article. Review.

2

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report.

Szmulewicz DJ, Merchant SN, Halmagyi GM. Szmulewicz DJ, et al. Otol Neurotol. 2011 Oct;32(8):e63-5. doi: 10.1097/MAO.0b013e318210b719. Otol Neurotol. 2011. PMID: 21451431 Free PMC article. No abstract available.

3

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

Szmulewicz DJ, Waterston JA, Halmagyi GM, Mossman S, Chancellor AM, McLean CA, Storey E. Szmulewicz DJ, et al. Neurology. 2011 May 31;76(22):1903-10. doi: 10.1212/WNL.0b013e31821d746e. Neurology. 2011. PMID: 21624989 Free PMC article.

4

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.

Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E. Szmulewicz DJ, et al. Ann N Y Acad Sci. 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. Ann N Y Acad Sci. 2011. PMID: 21950986 Review.

5

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS.

Szmulewicz DJ, McLean CA, Rodriguez ML, Chancellor AM, Mossman S, Lamont D, Roberts L, Storey E, Halmagyi GM. Szmulewicz DJ, et al. Neurology. 2014 Apr 22;82(16):1410-5. doi: 10.1212/WNL.0000000000000352. Epub 2014 Mar 28. Neurology. 2014. PMID: 24682971 Free PMC article.

6

Auditory neuropathy in individuals with Type 1 diabetes.

Rance G, Chisari D, O'Hare F, Roberts L, Shaw J, Jandeleit-Dahm K, Szmulewicz D. Rance G, et al. J Neurol. 2014 Aug;261(8):1531-6. doi: 10.1007/s00415-014-7371-2. Epub 2014 May 21. J Neurol. 2014. PMID: 24846202

7

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.

Szmulewicz DJ, Seiderer L, Halmagyi GM, Storey E, Roberts L. Szmulewicz DJ, et al. Muscle Nerve. 2015 Apr;51(4):600-3. doi: 10.1002/mus.24422. Epub 2015 Jan 5. Muscle Nerve. 2015. PMID: 25130975

8

CANVAS an update: clinical presentation, investigation and management.

Szmulewicz DJ, McLean CA, MacDougall HG, Roberts L, Storey E, Halmagyi GM. Szmulewicz DJ, et al. J Vestib Res. 2014;24(5-6):465-74. doi: 10.3233/VES-140536. J Vestib Res. 2014. PMID: 25564090 Review.

9

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

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: szmulewicz dj. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.

10

The Pathology of the Vestibular System in CANVAS.

Ishai R, Seyyedi M, Chancellor AM, McLean CA, Rodriguez ML, Halmagyi GM, Nadol JB Jr, Szmulewicz DJ, Quesnel AM. Ishai R, et al. Among authors: szmulewicz dj. Otol Neurotol. 2021 Mar 1;42(3):e332-e340. doi: 10.1097/MAO.0000000000002985. Otol Neurotol. 2021. PMID: 33492056 Free PMC article.

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