Shy M - Search Results

1

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. Montenegro G, et al. Among authors: shy m. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20. Ann Neurol. 2011. PMID: 21254193 Free PMC article.

2

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.

Kamholz J, Shy M, Scherer S. Kamholz J, et al. Among authors: shy m. Ann Neurol. 1994 Sep;36(3):451-2. doi: 10.1002/ana.410360326. Ann Neurol. 1994. PMID: 8080259 No abstract available.

3

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Boerkoel CF, et al. Among authors: shy m. Ann Neurol. 2002 Feb;51(2):190-201. doi: 10.1002/ana.10089. Ann Neurol. 2002. PMID: 11835375

4

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. Züchner S, et al. Among authors: shy m. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797. Ann Neurol. 2006. PMID: 16437557

5

Determinants of reduced health-related quality of life in pediatric inherited neuropathies.

Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Burns J, et al. Among authors: shy m. Neurology. 2010 Aug 24;75(8):726-31. doi: 10.1212/WNL.0b013e3181eee496. Neurology. 2010. PMID: 20733147 Free PMC article.

6

Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.

Prada V, Passalacqua M, Bono M, Luzzi P, Scazzola S, Nobbio LA, Capponi S, Bellone E, Mandich P, Mancardi G, Shy M, Schenone A, Grandis M. Prada V, et al. Among authors: shy m. Ann Neurol. 2012 Mar;71(3):427-31. doi: 10.1002/ana.22695. Ann Neurol. 2012. PMID: 22451207 Free PMC article.

7

High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.

Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group. Lewis RA, et al. Among authors: shy me. JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178. JAMA Neurol. 2013. PMID: 23797954 Free PMC article. Clinical Trial.

8

Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease.

Ramchandren S, Shy M, Feldman E, Carlos R, Siskind C. Ramchandren S, et al. Among authors: shy m. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):635-9. doi: 10.1136/jnnp-2013-307390. Epub 2014 Aug 25. J Neurol Neurosurg Psychiatry. 2015. PMID: 25157034 Free PMC article.

9

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

Saporta MA, Dang V, Volfson D, Zou B, Xie XS, Adebola A, Liem RK, Shy M, Dimos JT. Saporta MA, et al. Among authors: shy m. Exp Neurol. 2015 Jan;263:190-9. doi: 10.1016/j.expneurol.2014.10.005. Epub 2014 Oct 30. Exp Neurol. 2015. PMID: 25448007 Free PMC article.

10

Update on Charcot-Marie-Tooth disease.

Gutmann L, Shy M. Gutmann L, et al. Among authors: shy m. Curr Opin Neurol. 2015 Oct;28(5):462-7. doi: 10.1097/WCO.0000000000000237. Curr Opin Neurol. 2015. PMID: 26263471 Review.

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