McLean CA - Search Results

1

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. Among authors: mclean ca. Neurology. 2011 May 31;76(22):1903-10. doi: 10.1212/WNL.0b013e31821d746e. Neurology. 2011. PMID: 21624989 Free PMC article.

2

The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.

McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenáková L, Brown P. McLean CA, et al. Neurology. 1997 Aug;49(2):552-8. doi: 10.1212/wnl.49.2.552. Neurology. 1997. PMID: 9270595

3

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

Smith MJ, Gardner RJ, Knight MA, Forrest SM, Beyreuther K, Storey E, McLean CA, Cotton RG, Cappal R, Masters CL. Smith MJ, et al. Among authors: mclean ca. Neuroreport. 1999 Feb 25;10(3):503-7. doi: 10.1097/00001756-199902250-00011. Neuroreport. 1999. PMID: 10208579

4

Novel prion protein insert mutation associated with prolonged neurodegenerative illness.

Lewis V, Collins S, Hill AF, Boyd A, McLean CA, Smith M, Masters CL. Lewis V, et al. Among authors: mclean ca. Neurology. 2003 May 27;60(10):1620-4. doi: 10.1212/01.wnl.0000065887.14609.0e. Neurology. 2003. PMID: 12771252

5

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. Among authors: mclean ca. 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.

6

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. Among authors: mclean ca. Neurology. 2014 Apr 22;82(16):1410-5. doi: 10.1212/WNL.0000000000000352. Epub 2014 Mar 28. Neurology. 2014. PMID: 24682971 Free PMC article.

7

CANVAS an update: clinical presentation, investigation and management.

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

8

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: mclean ca. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.

9

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. Among authors: mclean ca. Neurol Clin Pract. 2016 Feb;6(1):61-68. doi: 10.1212/CPJ.0000000000000215. Neurol Clin Pract. 2016. PMID: 26918204 Free PMC article. Review.

10

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: mclean ca. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.

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