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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Yiu EM, et al. Among authors: siskind ce. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9. J Neurol Neurosurg Psychiatry. 2022. PMID: 35140138 Review.
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. Neurology. 2007 Mar 13;68(11):849-55. doi: 10.1212/01.wnl.0000256709.08271.4d. Neurology. 2007. PMID: 17353473
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
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: siskind ce. 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. Among authors: siskind ce. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 Free PMC article.
Phenotype expression in women with CMT1X.
Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Siskind CE, et al. J Peripher Nerv Syst. 2011 Jun;16(2):102-7. doi: 10.1111/j.1529-8027.2011.00332.x. J Peripher Nerv Syst. 2011. PMID: 21692908
Strategy for genetic testing in Charcot-Marie-disease.
Miller LJ, Saporta AS, Sottile SL, Siskind CE, Feely SM, Shy ME. Miller LJ, et al. Among authors: siskind ce. Acta Myol. 2011 Oct;30(2):109-16. Acta Myol. 2011. PMID: 22106713 Free PMC article.
48 results