Shy ME - Search Results

1

Regulating PMP22 expression as a dosage sensitive neuropathy gene.

Pantera H, Shy ME, Svaren J. Pantera H, et al. Among authors: shy me. Brain Res. 2020 Jan 1;1726:146491. doi: 10.1016/j.brainres.2019.146491. Epub 2019 Oct 3. Brain Res. 2020. PMID: 31586623 Free PMC article. Review.

2

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.

Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME. Kamholz J, et al. Among authors: shy me. Brain. 2000 Feb;123 ( Pt 2):222-33. doi: 10.1093/brain/123.2.222. Brain. 2000. PMID: 10648431 Review.

3

Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis.

Xu W, Manichella D, Jiang H, Vallat JM, Lilien J, Baron P, Scarlato G, Kamholz J, Shy ME. Xu W, et al. Among authors: shy me. J Neurosci Res. 2000 Jun 15;60(6):714-24. doi: 10.1002/1097-4547(20000615)60:6<714::AID-JNR3>3.0.CO;2-1. J Neurosci Res. 2000. PMID: 10861783

4

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

Li J, Bai Y, Ghandour K, Qin P, Grandis M, Trostinskaia A, Ianakova E, Wu X, Schenone A, Vallat JM, Kupsky WJ, Hatfield J, Shy ME. Li J, et al. Among authors: shy me. Brain. 2005 May;128(Pt 5):1168-77. doi: 10.1093/brain/awh483. Epub 2005 Mar 17. Brain. 2005. PMID: 15774502

5

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. Shy ME, et al. Ann Neurol. 2006 Feb;59(2):358-64. doi: 10.1002/ana.20777. Ann Neurol. 2006. PMID: 16437560

6

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

7

Neuropathy in a human without the PMP22 gene.

Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Saporta MA, et al. Among authors: shy me. Arch Neurol. 2011 Jun;68(6):814-21. doi: 10.1001/archneurol.2011.110. Arch Neurol. 2011. PMID: 21670407 Free PMC article.

8

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.

Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME. Patzkó A, et al. Among authors: shy me. Brain. 2012 Dec;135(Pt 12):3551-66. doi: 10.1093/brain/aws299. Brain. 2012. PMID: 23250879 Free PMC article.

9

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Brewer MH, et al. Among authors: shy me. Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833716 Free PMC article.

10

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: shy me. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14. Brain. 2014. PMID: 25125609 Free PMC article.

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