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Page 1
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Kennerson ML, et al. Among authors: feely sm. Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170900 Free PMC article.
Persistent CNS dysfunction in a boy with CMT1X.
Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY. Siskind C, et al. Among authors: feely sm. J Neurol Sci. 2009 Apr 15;279(1-2):109-13. doi: 10.1016/j.jns.2008.12.031. Epub 2009 Feb 3. J Neurol Sci. 2009. PMID: 19193385
PMP22 expression in dermal nerve myelin from patients with CMT1A.
Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. Katona I, et al. Among authors: feely sm. Brain. 2009 Jul;132(Pt 7):1734-40. doi: 10.1093/brain/awp113. Epub 2009 May 15. Brain. 2009. PMID: 19447823 Free PMC article.
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME. Feely SM, et al. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 Free PMC article.
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. Gonzalez MA, et al. Among authors: feely sm. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14. Brain. 2014. PMID: 25125609 Free PMC article.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Sanmaneechai O, et al. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Brain. 2015. PMID: 26310628 Free PMC article.
54 results