Selected Publications

Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain. 2009;132(Pt 7):1734-40.

Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY. Persistent CNS dysfunction in a boy with CMT1X. J Neurol Sci. 2009;279(1-2):109-13.

Sheth S, Francies K, Siskind CE, Feely SM, Lewis RA, Shy ME. Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. J Peripher Nerv Syst. 2008;13(4):299-304.

Chung KW, Suh BC, Shy ME, Cho SY, Yoo JH, Park SW, Moon H, Park KD, Choi KG, Kim S, Kim SB, Shim DS, Kim SM, Sunwoo IN, Choi BO. Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord. 2008;18(8):610-8.

Shy ME. Obstructive sleep apnoea and CMT1A: answers and more questions. J Neurol Neurosurg Psychiatry. 2008;79(7):743-4.

Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007;81(3):552-8.

Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007;64(7):974-8.

Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007;448(7149):68-72.

Bai Y, Ianokova E, Pu Q, Ghandour K, Levinson R, Martin JJ, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, Li J. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol. 2006;63(12):1787-94.

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. 2006;67(7):1141-6.

Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol. 2006;498(2):252-65.

Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol. 2002;1(2):110-8.

Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol. 2003;53(3):354-65.

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;52(4):429-34.

Shy ME, Balsamo J, Lilien J, Kamholz J. A molecular basis for hereditary motor and sensory neuropathy disorders. Curr Neurol Neurosci Rep. 2001;1(1):77-88.