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CMT1X phenotypes represent loss of GJB1 gene function.
Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF. Shy ME, et al. Among authors: hahn af. Neurology. 2007 Mar 13;68(11):849-55. doi: 10.1212/01.wnl.0000256709.08271.4d. Neurology. 2007. PMID: 17353473
Modifying the Medical Research Council grading system through Rasch analyses.
Vanhoutte EK, Faber CG, van Nes SI, Jacobs BC, van Doorn PA, van Koningsveld R, Cornblath DR, van der Kooi AJ, Cats EA, van den Berg LH, Notermans NC, van der Pol WL, Hermans MC, van der Beek NA, Gorson KC, Eurelings M, Engelsman J, Boot H, Meijer RJ, Lauria G, Tennant A, Merkies IS; PeriNomS Study Group. Vanhoutte EK, et al. Brain. 2012 May;135(Pt 5):1639-49. doi: 10.1093/brain/awr318. Epub 2011 Dec 20. Brain. 2012. PMID: 22189568 Free PMC article.
118 results