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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: weiss md. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Charcot-Marie-Tooth disease.
Carter GT, Weiss MD, Han JJ, Chance PF, England JD. Carter GT, et al. Among authors: weiss md. Curr Treat Options Neurol. 2008 Mar;10(2):94-102. doi: 10.1007/s11940-008-0011-3. Curr Treat Options Neurol. 2008. PMID: 18334132
Late-onset hereditary axonal neuropathies.
Bennett CL, Lawson VH, Brickell KL, Isaacs K, Seltzer W, Lipe HP, Weiss MD, Carter GT, Flanigan KM, Chance PF, Bird TD. Bennett CL, et al. Among authors: weiss md. Neurology. 2008 Jul 1;71(1):14-20. doi: 10.1212/01.wnl.0000304048.94023.73. Epub 2008 May 21. Neurology. 2008. PMID: 18495953
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, Wicklund M, Barohn RJ, Ensrud E, Griggs RC, Gronseth G, Amato AA; Guideline Development Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Narayanaswami P, et al. Neurology. 2014 Oct 14;83(16):1453-63. doi: 10.1212/WNL.0000000000000892. Neurology. 2014. PMID: 25313375 Free PMC article.
216 results