Below are the most recent publications written about "Charcot-Marie-Tooth Disease" by people in Profiles.
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Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ, Herrmann DN, Burns J. Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure. Neurology. 2024 Feb 13; 102(3):e207963.
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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.
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Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ. Reliability of the Charcot-Marie-Tooth functional outcome measure. J Peripher Nerv Syst. 2020 09; 25(3):288-291.
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Chen Y, Fang F, Kidwell KM, Vangipuram K, Marcath LA, Gersch CL, Rae JM, Hayes DF, Lavoie Smith EM, Henry NL, Beutler AS, Hertz DL. Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy. Pharmacogenomics. 2020 08; 21(12):841-851.
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Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Z?chner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 02; 29(2):134-137.
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Chen DH, Ma M, Scavina M, Blue E, Wolff J, Karna P, Dorschner MO, Raskind WH, Bird TD. An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. Muscle Nerve. 2018 05; 57(5):859-862.
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Faldini C, Traina F, Nanni M, Mazzotti A, Calamelli C, Fabbri D, Pungetti C, Giannini S. Surgical treatment of cavus foot in Charcot-Marie-tooth disease: a review of twenty-four cases: AAOS exhibit selection. J Bone Joint Surg Am. 2015 Mar 18; 97(6):e30.
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Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
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Lupu VD, Mora CA, Dambrosia J, Meer J, Dalakas M, Floeter MK. Terminal latency index in neuropathy with antibodies against myelin-associated glycoproteins. Muscle Nerve. 2007 Feb; 35(2):196-202.
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Nagai MK, Chan G, Guille JT, Kumar SJ, Scavina M, Mackenzie WG. Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet. J Pediatr Orthop. 2006 Jul-Aug; 26(4):438-43.