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Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.
Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. Shy M, et al. J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28. J Neurol Neurosurg Psychiatry. 2018. PMID: 28754666 Free PMC article. No abstract available.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. Among authors: shy m. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.
Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group. Lewis RA, et al. Among authors: shy me. JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178. JAMA Neurol. 2013. PMID: 23797954 Free PMC article. Clinical Trial.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Fridman V, et al. Among authors: shy rr, shy me. Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11. Neurology. 2020. PMID: 32047073 Free PMC article.
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Panosyan FB, et al. Among authors: shy me. Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768847 Free PMC article. Clinical Trial.
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. Züchner S, et al. Among authors: shy m. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797. Ann Neurol. 2006. PMID: 16437557
Update on Charcot-Marie-Tooth disease.
Gutmann L, Shy M. Gutmann L, et al. Among authors: shy m. Curr Opin Neurol. 2015 Oct;28(5):462-7. doi: 10.1097/WCO.0000000000000237. Curr Opin Neurol. 2015. PMID: 26263471 Review.
307 results