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Page 1
Rapidly progressive dementia and ataxia in an elderly man.
Ahmed RM, Halmagyi GM, Rodriguez ML. Ahmed RM, et al. Among authors: rodriguez ml. Pract Neurol. 2013 Jun;13(3):165-73. doi: 10.1136/practneurol-2012-000443. Epub 2013 Mar 13. Pract Neurol. 2013. PMID: 23487816 Free PMC article. No abstract available.
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: rodriguez ml. Neurology. 2014 Apr 22;82(16):1410-5. doi: 10.1212/WNL.0000000000000352. Epub 2014 Mar 28. Neurology. 2014. PMID: 24682971 Free PMC article.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Rossor AM, et al. Among authors: rodriguez ml. Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14. Brain. 2015. PMID: 25497877 Free PMC article.
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Rossor AM, et al. Among authors: rodriguez ml. Brain. 2015 Nov;138(Pt 11):e392. doi: 10.1093/brain/awv160. Epub 2015 Jun 10. Brain. 2015. PMID: 26063657 Free PMC article. No abstract available.
Invasive Fungal Sinusitis Presenting as Acute Posterior Ischemic Optic Neuropathy.
Ghabrial R, Ananda A, van Hal SJ, Thompson EO, Larsen SR, Heydon P, Gupta R, Cherepanoff S, Rodriguez M, Halmagyi GM. Ghabrial R, et al. Neuroophthalmology. 2017 Nov 7;42(4):209-214. doi: 10.1080/01658107.2017.1392581. eCollection 2018 Aug. Neuroophthalmology. 2017. PMID: 30042790 Free PMC article.
298 results