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X-linked Charcot-Marie-Tooth disease.
Scherer SS, Kleopa KA. Scherer SS, et al. J Peripher Nerv Syst. 2012 Dec;17 Suppl 3(0 3):9-13. doi: 10.1111/j.1529-8027.2012.00424.x. J Peripher Nerv Syst. 2012. PMID: 23279425 Free PMC article. Review.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. Motley WW, et al. Among authors: scherer ss. Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23. Brain. 2016. PMID: 27009151 Free PMC article.
262 results