Feely SME - Search Results

1

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: feely sme. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.

2

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.

Kennerson M, Nicholson G, Kowalski B, Krajewski K, El-Khechen D, Feely S, Chu S, Shy M, Garbern J. Kennerson M, et al. Neurology. 2009 Jan 20;72(3):246-52. doi: 10.1212/01.wnl.0000339483.86094.a5. Neurology. 2009. PMID: 19153371

3

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

Sheth S, Francies K, Siskind CE, Feely SM, Lewis RA, Shy ME. Sheth S, et al. J Peripher Nerv Syst. 2008 Dec;13(4):299-304. doi: 10.1111/j.1529-8027.2008.00196.x. J Peripher Nerv Syst. 2008. PMID: 19192070

4

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

5

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. Brain. 2009 Jul;132(Pt 7):1734-40. doi: 10.1093/brain/awp113. Epub 2009 May 15. Brain. 2009. PMID: 19447823 Free PMC article.

6

Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease.

Goldberg A, Schepens SL, Feely SM, Garbern JY, Miller LJ, Siskind CE, Conti GE. Goldberg A, et al. J Neurol Sci. 2010 Nov 15;298(1-2):91-5. doi: 10.1016/j.jns.2010.08.002. J Neurol Sci. 2010. PMID: 20804986 Free PMC article.

7

Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Saporta AS, et al. Ann Neurol. 2011 Jan;69(1):22-33. doi: 10.1002/ana.22166. Ann Neurol. 2011. PMID: 21280073 Free PMC article.

8

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.

9

Strategy for genetic testing in Charcot-Marie-disease.

Miller LJ, Saporta AS, Sottile SL, Siskind CE, Feely SM, Shy ME. Miller LJ, et al. Acta Myol. 2011 Oct;30(2):109-16. Acta Myol. 2011. PMID: 22106713 Free PMC article.

10

Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.

Komyathy K, Neal S, Feely S, Miller LJ, Lewis RA, Trigge G, Siskind CE, Shy ME, Ramchandren S. Komyathy K, et al. Muscle Nerve. 2013 Apr;47(4):493-6. doi: 10.1002/mus.23614. Epub 2013 Mar 3. Muscle Nerve. 2013. PMID: 23456782 Free PMC article.

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