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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: feely sme. Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
Persistent CNS dysfunction in a boy with CMT1X.
Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY. Siskind C, et al. 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
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. 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.
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.
Detection of copy number variation by SNP-allelotyping.
Parker B, Alexander R, Wu X, Feely S, Shy M, Schnetz-Boutaud N, Li J. Parker B, et al. J Neurogenet. 2015 Mar;29(1):4-7. doi: 10.3109/01677063.2014.923884. Epub 2014 Jun 2. J Neurogenet. 2015. PMID: 24830919 Free PMC article.
53 results