Publications
Recent Publications
Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F, Skin biopsies demonstrate MPZ splicing abnormalities in Charcot Marie Tooth neuropathy 1B, Neurology, 67: 1141-1146, 2006
Stanton M, Pannoni V, Lewis RA, Logigian EL, Naguib D, Shy ME, Cleland, J, Herrmann DN, Dispersion of compound muscle
action poteintial in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy, Muscle Nerve, 34: 417-422,
2006
Swan ER, Fuerst DR, Shy ME, Women and men are equally disabled by Charcot Marie Tooth disease type 1A, Neurology, 68: 873,
2007
Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF,CMT1X
phenotype represents loss of GJB1 gene function, Neurology, 68: 849-856, 2007
Gaboreanu A-M, Hrstka R, Xu W, Shy ME, Kamholz J, Lilien J, Balsamo J, Myelin Protein Zero/P0 phosphorylation and function
requires an adaptor protein linking it to RACK1 and PKCJ. Cell Biology, 177: 707-716, 2007
Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA, Stoichiometric alteration of PMP22 protein
determines the phenotype of HNPP, Arch Neurol. 64: 974-978, 2007
PMID: 17620487
Aboussouan LS, Lewis RA, Shy ME, Disorders of Pulmonary Function, Sleep and the Upper Airway in Charcot Marie Tooth
Disease, Lung, 185: 1-7, 2007
PMID: 17294338
Chow CY, Zhang Y, Adamska M, Dowling J,Shiga K, Szigeta K, Shy M, Lupski JR, Weisman L, Meisler MH, Mutation of FIG4
causes neurodegeneration and demyelination in the pale tremor mouse and in patients with CMT 4J, Nature 448: 68-72, 2007
PMID: 17572665
Kim HJ, Sohn K-M, Shy ME, Krajewski KM, Hwang M, Park J-H, Jang S-Y, Won H-H, Choi B-O, Hong S., Kim B-J, Suh Y-L, Ki C-S,
Lee S-Y, Kin S-H, Kim J-W, Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for
nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic atrophy (CMTX5), American Journal
of Human Genetics 81: 552-558, 2007
PMID: 17701900
Shy ME, Chen L, Swan E, Taube R, Krajewski KM, Herrmann D, Lewis RA, McDermott MP, Neuropathy Progression in Charcot
Marie Tooth Disease Type 1A (CMT1A), Neurology, In Press
Ianokova E, Anguelov RA, Lewis RA, Acsadi G, Kamholz J, Shy ME, Acsadi, Agnes J. AAV-GDNF treatment of Mpz -/- mice, In
Revision, Gene Therapy
Grandis M, Vigo T, Jain M, Brucal M, Passalacqua M, La Padula V, Benvenuto F, Cadoni A, Kamholz J, Shy ME, Schenone A,
Different Cellular and Molecular Mechanisms for early and late onset myelin protein zero mutations, Human Molecular Genetics,
In Revision.
Padua L, Shy ME, Aprile I, Cavallaro T, Pareyson D, Quattrone A, Rizzuto N, Vita G, Tonali P, Schenone A, Correlation between
clinical/neurophysiological findings and quality of life in Charcot Marie Tooth Type 1A, Journal of the Peripheral Nrvous System,
In Revision
Shy ME, Therapeutic Strategies for the Inherited Neuropathies, NeuroMolecular Med, 8: 255-278, 2006
Szigeti K, Shy ME, Lupski JR. Practice Guidelines: ACMG practice guideline for genetic testing in Charcot-Marie-Tooth disease
and related peripheral neuropathies, American College of Clinical Genetics
PMID: 16775380
Acsadi, AJ, Krajewski KM, Shy ME, Charcot Marie Tooth Neuropathies: Diagnosis and Management, , In Neuromuscular
Disorders/Seminars in Neurology, Thieme Medical Publishers, In Press
Bai Y, Ianokova E, Pu Q, Ghandour K, Levinson R, Martin J, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, Li J. Effect of an R69C mutation in th emyelin protein zero gene on myelination and ion channel subtypes. Arch Neurol. 2006 Dec;63(12):1787-94.
PMID: 17172621
Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
PMID: 17030746
Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garben J, Kupsky WJ, Shy ME. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J. Comp Neurol. 2006 Sep 10;498(2):252-65
PMID: 16856127
Publication using the CMT Database (Non-WSU):
Weimer LH, Podwall D. Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease. J Neurol Sci. 2006 Mar 15;241(1-2):47-54.
PMID: 16386273
Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Mustafa Saifi G, Scherer SS, Lupski JR. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurology. 2006 Feb;59(2):358-64.
PMID: 16437560
Zuchner 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. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurology. 2006 Feb;59(2):276-81.
PMID: 16437557
Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci. 2006 Jan 12. Epub 2006 Jan 18.
PMID: 16414078
Shy ME, Rose MR. Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it? Neurology. 2005 Sept 27;65(6):790-1. No abstract available.
PMID: 16186514
Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 2005 Apr 12;64(7):1209-14.
PMID: 15824348
Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr;25(4):372-83.
PMID: 15776429
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. Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.
Brain. 2005 May;128(Pt 5):1168-77. Epub 2005 Mar 17.
PMID: 15774502
Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet. 2005 Apr 15;14(8):1087-94. Epub 2005 Mar 16.
PMID: 15772096
Grandis M, Shy ME. Current Therapy for Charcot-Marie-Tooth Disease. Curr Treat Options Neurol. 2005 Jan;7(1):23-31.
PMID: 15610704
Shy ME. Charcot-Marie-Tooth disease: an update. Curr Opin Neurol. 2004 Oct;17(5):579-85. Review.
PMID: 15367862
Kamholz J, Shy ME. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology. 2004 Jul 13;63(1):194; author reply 194. No abstract available.
PMID: 15249646
Krajewski KM, Shy ME. Genetic testing in neuromuscular disease. Neurol Clin. 2004 Aug;22(3):481-508, v.
PMID: 15207873
Lewis RA. Clinical electrophysiology and pathophysiology: lessons from studies in demyelinating neuropathies. J Neurol Sci. 2004 May 15;220(1-2):125-6. No abstract available.
PMID: 15140619
Li J, Krajewski K, Lewis RA, Shy ME. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2004 Feb;29(2):205-10.
PMID: 14755484
Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J. Phenotypic clustering in MPZ mutations. Brain. 2004 Feb;127(Pt 2):371-84.
PMID: 14711881
Lewis RA, Li J, Fuerst DR, Shy ME, Krajewski K. Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease. Muscle Nerve. 2003 Aug;28(2):161-7.
PMID: 12872319
Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective.
Lancet Neurol. 2002 Jun;1(2):110-8. Review.
PMID: 12849515
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar;126(Pt 3):590-7.
PMID: 12566280
Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol. 2002 Oct;52(4):429-34.
PMID: 12325071
Li J, Krajewski K, Shy ME, Lewis RA. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology. 2002 Jun 25;58(12):1769-73.
PMID: 12084875
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. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb;51(2):190-201.
PMID: 11835375
Menichella DM, Arroyo EJ, Awatramani R, Xu T, Baron P, Vallat JM, Balsamo J, Lilien J, Scarlato G, Kamholz J, Scherer SS, Shy ME. Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells. Mol Cell Neurosci. 2001 Dec;18(6):606-18.
PMID: 11749037
Xu W, Shy M, Kamholz J, Elferink L, Xu G, Lilien J, Balsamo J. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol. 2001 Oct 29;155(3):439-46.
PMID: 11673479
Mendell JR, Barohn RJ, Freimer ML, Kissel JT, King W, Nagaraja HN, Rice R, Campbell WW, Donofrio PD, Jackson CE, Lewis RA, Shy M, Simpson DM, Parry GJ, Rivner MH, Thornton CA, Bromberg MB, Tandan R, Harati Y, Giuliani MJ; Working Group on Peripheral Neuropathy. Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy. Neurology. 2001 Feb 27;56(4):445-9.
PMID: 11222785
Shy ME, Balsamo J, Lilien J, Kamholz J, A molecular basis for hereditary motor and sensory neuropathy disorders, Current Neurology and Neuroscience Reports. 2001, 1:77-87.
PMID: 11898503
Krajewski KM, Shy ME, The neurologist and genetic testing in a neuromuscular clinic, invited editorial, Journal of Clinical Neuromuscular Disease. 2000, 1:172-174.
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 2000, Jul;123 ( Pt 7):1516-27.
PMID: 10869062
Lewis RA, Sumner AJ, Shy ME. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle Nerve. 2000, Oct ;23(10):1472-1487. [Record as supplied by publisher]
PMID: 11003782
Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain. 2000, Feb;123 ( Pt 2):222-33. Review.
PMID: 10648431
Jiang H, Duchala CS, Awatramani R, Shumas S, Carlock L, Kamholz J, Garbern J, Scherer SS, Shy ME, Macklin WB. Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system. J Neurobiol. 2000, Jul;44(1):7-19
PMID: 10880128
Xu W, Manichella D, Jiang H, Vallat JM, Lilien J, Baron P, Scarlato G, Kamholz J, Shy ME. Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. J Neurosci Res. 2000, Jun 15;60(6):714-24.
PMID: 10861783
Shy ME and Lewis RA, Inherited Neuropathies, in Neuromuscular Diseases, Pourmand R ed, Buttermworth-Heinemann, (in press).
Lewis, RA , Sumner A, and Shy ME, Hereditary Neuropathies, in Clinical Neurophysiology and Neuromuscular diseases, Ed. Brown B, Bolton C, and Aminoff M, (in press).
Jani A, Menichella D, Jiang H, Chbihi T, Acsadi G, Shy ME, Kamholz J. Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve. Hum Gene Ther. 1999, Mar 20;10(5):787-800.
PMID: 10210146
Garbern JY, Cambi F, Tang XM, Sima AA, Vallat JM, Bosch EP, Lewis R, Shy M, Sohi J, Kraft G, Chen KL, Joshi I, Leonard DG, Johnson W, Raskind W, Dlouhy SR, Pratt V, Hodes ME, Bird T, Kamholz J. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron. 1997, Jul;19(1):205-18.
PMID: 9247276
Garbern J, Cambi F, Shy M, Kamholz J. The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch Neurol. 1999 Oct;56(10):1210-4. Review.
PMID: 10520936
Shy ME, Kamholz J, Lovelace RE. Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders. Ann N Y Acad Sci. 1999 Sep 14;883:xiii-xviii. Review. No abstract available.
PMID: 10586222
Lewis RA, Shy ME. Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin. Ann N Y Acad Sci. 1999 Sep 14;883:504-7. No abstract available.
PMID: 10586285
Krajewski K, Turansky C, Lewis R, Garbern J, Hinderer S, Kamholz J, Shy ME. Correlation between weakness and axonal loss in patients with CMT1A. Ann N Y Acad Sci. 1999 Sep 14;883:490-2.
PMID: 10586281
Pareyson D, Menichella D, Botti S, Sghirlanzoni A, Fallica E, Mora M, Ciano C, Shy ME, Taroni F. Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease. Ann N Y Acad Sci. 1999 Sep 14;883:477-80. No abstract available.
PMID: 10586278
Jani A, Menichella D, Jiang H, Chbihi T, Acsadi G, Kamholz J, Shy ME. Overcoming cellular immunity to prolong adenoviral-mediated gene expression in sciatic nerve. Ann N Y Acad Sci. 1999 Sep 14;883:397-414.
PMID: 10586264
Related Articles
Garbern JY, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat JM, Bosch EP, Hodes ME, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J. Peripheral neuropathy caused by proteolipid protein gene mutations. Ann N Y Acad Sci. 1999 Sep 14;883:351-65.
PMID: 10586260
Menichella DM, Xu W, Jiang H, Sohi J, Vallat JM, Baron P, Kamholz J, Shy M. The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells. Ann N Y Acad Sci. 1999 Sep 14;883:281-93.
PMID: 10586253
Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M. Regulation of myelin-specific gene expression. Relevance to CMT1. Ann N Y Acad Sci. 1999 Sep 14;883:91-108. Review.
PMID: 10586235
Cheng HL, Shy M, Feldman EL. Regulation of insulin-like growth factor-binding protein-5 expression during Schwann cell differentiation. Endocrinology. 1999 Oct;140(10):4478-85.
PMID: 10499501
Garbay B, Boiron-Sargueil F, Shy M, Chbihi T, Jiang H, Kamholz J, Cassagne C. Regulation of oleoyl-CoA synthesis in the peripheral nervous system: demonstration of a link with myelin synthesis. J Neurochem. 1998 Oct;71(4):1719-26.
PMID: 9751207
Shy ME, Arroyo E, Sladky J, Menichella D, Jiang H, Xu W, Kamholz J, Scherer SS. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J Neuropathol Exp Neurol. 1997 Jul;56(7):811-21.
PMID: 9210878
Shy ME, Shi Y, Wrabetz L, Kamholz J, Scherer SS. Axon-Schwann cell interactions regulate the expression of c-jun in Schwann cells. J Neurosci Res. 1996 Mar 1;43(5):511-25.
PMID: 8833086
Shy ME, Tani M, Shi YJ, Whyatt SA, Chbihi T, Scherer SS, Kamholz J. An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve. Ann Neurol. 1995 Sep;38(3):429-36.
PMID: 7668829
Baron P, Shy M, Kamholz J, Scarlato G, Pleasure D. Expression of P0 protein mRNA along rat sciatic nerve during development. Brain Res Dev Brain Res. 1994 Dec 16;83(2):285-8.
PMID: 7535206
Kamholz J, Shy M, Scherer S.Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol. 1994 Sep;36(3):451-2. No abstract available.
PMID: 8080259
Baron P, Shy M, Honda H, Sessa M, Kamholz J, Pleasure D. Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and the spinal nerve roots of the rat J Neurocytol. 1994 Apr;23(4):249-57.
PMID: 7518505
Baron P, Kamholz J, Scherer S, Honda H, Shy M, Scarpini E, Scarlato G, Pleasure D. Appearance of PLP mRNA in specific regions of the developing rat lumbosacral spinal cord as revealed by in situ hybridization. Exp Neurol. 1993 May;121(1):139-47.
PMID: 7684334
Feltri ML, Scherer SS, Wrabetz L, Kamholz J, Shy ME. Mitogen-expanded Schwann cells retain the capacity to myelinate regenerating axons after transplantation into rat sciatic nerve. Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8827-31.
PMID: 1326765
Kamholz J, Sessa M, Scherer S, Vogelbacker H, Mokuno K, Baron P, Wrabetz L, Shy M, Pleasure D. Structure and expression of proteolipid protein in the peripheral nervous system. J Neurosci Res. 1992 Feb;31(2):231-44.
PMID: 1374129