Neurology

Michael E. Shy, MD

Portrait

Specialty: Neuromuscular Disease
Director, Division of Neuromuscular Medicine, Neurology
Professor of Neurology
Professor of Pediatrics

Contact Information

Office: 2157 RCP
Iowa City, IA 52242
Office Phone: 319-384-5094

Email: michael-shy@uiowa.edu

Education

BA, History, University of Pennsylvania, Philadelphia, Pennsylvania
MD, Medicine, Albany Medical College, Albany, New York

Internship, Internal Medicine, Albany Medical Center, Albany, New York
Residency, Columbia Presbyterian Medical Center, New York, New York
NINCDS, Clinical Neuroscience Training Program, Columbia Presbyterian Medical Center
Fellowship, Neuroimmunology, Muscular Dystrophy Association
Attending Neurologist, Neurology, Columbia Presbyterian Medical Center

Licensure and Certifications

MD license
MD license
Board Certified in Neurology

Education/Training Program Affiliations

Interdisciplinary Graduate Program in Neuroscience

Research Summary

My professional interests involve translational research to develop rational therapies for patients with inherited peripheral neuropathies and related neurodegenerative diseases.

All Publications

Patzkó A, Bai Y, Saporta M, Katona I, Wu X, Vizzuso D, Feltri M, Wang S, Dillon L, Kamholz J, Kirschner D, Sarkar F, Wrabetz L, Shy M.  Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice..  Brain : a journal of neurology.  2012 December. 135(Pt 12):3551-66.
[PubMed]

Shy M, Prada V, Passalacqua M, Bono M, Luzzi  P, Scazzola S, Nobbio L, Capponi  S, Bellone E, Mandich P, Mancardi G, Schenone A, Grandis M.  Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.  Annals of neurology.  2012. 71:427-431.

Shy M.  Lessons from London. Journal of neurology, neurosurgery, and psychiatry.  2012. 

Shy M, Saporta M, Shy B, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner  D, Crowther M, Southwood C, Wu X, Gow A, Feltri M, Wrabetz L.  MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.  Brain.  2012. 135:2032-2047.

Shy M, Harms M, Ori-McKenney K, Scoto M, Tuck E, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly M, Miller L, Jani-Acsadi  A, Pestronk A, Muntoni F, Vallee  R, Baloh R.  Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.  Neurology .  2012. 78:1714-1720.

Shy M, Burns  J, Ouvrier R, Estilow T, Shy R, Laura M, Eichinger K, Muntoni F, Reilly M, Pareyson D, Acsadi G, Finkel R.  Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.  Clin Biomech (Bristol, Avon).  2012. 

Shy M, Burns J, Ouvrier R, Estilow  T, Shy R, Laura M, Pallant J, Lek M, Muntoni F, Reilly M, Pareyson D, Acsadi G, Finkel R.  Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.  Annals of neurology.  2012. 71:642-652.

Shy M, Murphy S, Ovens R, Polke  J, Siskind C, Laura M, Bull K, Ramdharry G, Houlden H, Murphy R, Reilly  M.  X inactivation in females with X-linked Charcot-Marie-Tooth disease.  Neuromuscular disorders : NMD .  2012. 22:617-621.

Shy M, Katona  I, Zhang X, Bai Y, Yan Q, Hatfield  J, Kupski W, Li J.  Distinct pathogenic processes between Fig4 deficient sensory and motor neurons.  European Journal of Neuroscience.  2011. 33:1401-1410.

Shy M, Feely S, Laura M, Siskind C, Sottile S, Davis M, Gibbons V, Reilly M.  MFN2 mutations cause severe phenotypes in most patients with CMT2A.  Neurology.  2011. 76:1690-1696.

Shy M, Saporta M, Katona I, Zhang X, Roper H, Carr L, Macdonald F, Brueton  L, Suter  U, Reilly M, Li J.  Neuropathy in a human without the PMP22 gene.  Arch Neurol.  2011. 68:814-821.

Shy M, Reilly M, Muntoni F, Pareyson D.  168th ENMC International Workshop: Outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).  Neuromusc Disorders.  2010. 20:839-846.

Shy M, Bai Y, Zhang X, Katona I, Saporta M, O'Malley H, Isom L, Suter U, Li J.  Conduction block in PMP22 deficiency.  J Neurosci .  2010. 30:600-608.

Shy M, Huang J, Price J, Montenegro G, Wang G, Wu X, Vance J, Züchne S.  Copy number variations are a rare cause of CMT1A.  J Neurology.  2010. 257:735-741.

Shy M, Burns J, Ramchandren S, Ryan M, Ouvrier  R.  Determinants of reduced health related quality of life in pediatric inherited neuropathies.  Neurology.  2010. 75:726-731.

Shy M, Burns J, Ramchandren S, Ryan M, Ouvrier R.  Determinants of reduced health related quality of life in pediatric inherited neuropathies.  Neurology.  2010. 75:726-731.

Shy M, Reilly M.  Diagnosis and New Treatments in Genetic Neuropathies.  J of Neurology, Neurosurgery and Psychiatry .  2010. 12:1304-1314.

Shy M, Reilly M.  Diagnosis and New Treatments in Genetic Neuropathies.  J of Neurology, Neurosurgery and Psychiatry.  2009. 80:1304-1314.

Shy M.  Inherited Neuropathies.  Lea & Febiger, Philadelphia.  2009. 

Shy M, Kennerson M, Nicholson G, Kaler S, Kowalski B, Mercer J, Tang J, Llanos R, Chu S, Takata R, Speck-Martins  C, Baets J, Almeida-Souza  L, Fischer D, Timmerman V, Taylor P, Scherer S, Ferguson T, Bird T, DeJonghe P, Feely  S, Garbern J.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.  American Journal of Hum Genetics, Neurology.  2009. 72:248-252.

Shy M, Saporta M, Katona I, Lewis R, Masse S, Li J.  Shortened internodal length of dermal myelinated nerve fibers in CMT1A.  Brain.  2009. 132:3263-3273.

Shy M, Katona I, Wu X, Feely S, Siskind C, Li J.  Variability of PMP22 expression in dermal nerve myelin from patients with CMT1A.  Brain.  2009. 132:1734-40.

Shy M, Kennerson M, Nicholson G, Kowalski B, Krajewski K, El-Khechen  D, Feely S, Chu S, Garbern J.  X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1q21.  Neurology.  2009. 72:248-252.

Shy M, Jani-Acsadi  A, Krajewski .  Charcot Marie Tooth neuropathies: diagnosis and management.  Semin Neurol .  2008. 28:185-194.

Shy M, Padua L, Aprile I, Cavallaro T, Pareyson D, Quattrone  A, Rizzuto N, Tonali P, Schenone A.  Correlation between clinical/neurophysiological findings and quality of life in Charcot Marie Tooth Type 1A.  Journal of the Peripheral Nervous System.  2008. 13:64-70.

Shy M, Grandis M, Vigo T, Jain M, Brucal  M, Passalacqua M, La Padula  V, Benvenuto F, Cadoni A, Kamholz  J, Schenone A.  Defferent Cellular and Molecular Mechanisms for early and late onset myelin protein zero mutations.  Hum Mol Gen.  2008. 17:1877-1889.

Shy M, Sheth S, Francies K, Siskind C, Feely  S, Lewis R.  Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.  Journal of the Peripheral Nervous System.  2008. 13:299-304.

Shy M, Chung K, Suh B, Cho S, Yoo J, Suh J, Kim J, Moon H, Park K, Choi K, Kim S, Shim D, Kim S, Sunwoo I, Choi B.  Different clinical and magnetic resonance imaging fetures between Charcot Marie Tooth disease type 1A and 2A.  Neuromuscular Disorders.  2008. 18:610-618.

Shy M, Gooch C.  Hereditary motor neuropathy and heat shock proteins: a shocking transformation, Editorial.  Neurology.  2008. 21:1656-1657.

Shy M, Zhang X, Chow C, Sahenk Z, Meisler M, Li J.  Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.  Brain.  2008. 

Shy M, Chen L, Swan E, Taube R, Krajewski K, Herrmann  D, Lewis  R, McDermott M.  Neuropathy Progression in Charcot Marie Tooth Disease Type 1A (CMT1A).  Neurology.  2008. 70:378-383.

Shy M.  Obstructive sleep apnea and CMT1A; answers and more questions, Editorial.  J Neurol Neurosurg Psychiatry .  2008. 79:743-744.

Gaboreanu A, Hrstka R, Xu W, Shy M, Kamholz J, Lilien J, Balsamo J.  Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha..  The Journal of cell biology.  2007 May. 177(4):707-16.
[PubMed]

Shy M, Siskind C, Swan  E, Krajewski K, Doherty T, Fuerst D, Ainsworth P, Lewis R, Scherer S, Hahn A.  CMT1X phenotype represents loss of GJB1 gene function.  Neurology.  2007. 68:849-856.

Shy M, Aboussouan  L, Lewis R.  Disorders of Pulmonary Function, Sleep and the Upper Airway in Charcot Marie Tooth Disease.  Lung.  2007. 185:1-7.

Shy M, Chow C, Zhang Y, Adamska M, Dowling J, Shiga K, Szigeta K, Lupski J, Weisman L, Meisler M.  Mutation of FIG4 causes neurodegeneration and demyelination in the pale tremor mouse and in patients with CMT 4J.  Nature.  2007. 448:68-72.

Shy M, Kim H, Sohn K, Krajewski K, Hwang M, Park J, Jang S, Won H, Choi B, Hong S, Kim B, Suh Y, Ki C, Lee S, Kin S, Kim J.  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 .  2007. 81:552-558.

Shy M, Kamholz J, Li J.  Mutations in Schwann cell genes causing inherited neuropathies.  Cambridge U. Press.  2007. 

Shy M, Kamholz J, Brucal M, Li J.  Myelin Protein Zero and CMT1B: a tale of two phenotypes.  Elsevier Press.  2007. 

Shy M, Gaboreanu A, Hrstka R, Xu W, Kamholz J, Lilien J, Balsamo J.  Myelin Protein Zero/P0 phosphorylation and function requires an adaptor protein linking it to RACK1 and PKCaJ.  Cell Biology.  2007. 177:707-716.

Shy M.  Peripheral Neuropathies.  Saunders/Elsevier Philadelphia.  2007. 

Shy M, Li J, Ghandour  K, Radovanovic D, Shy  R, Krajewski  K, Nicholson G.  Stoichiometric alteration of PMP22 protein determines the phenotype of HNPP.  Arch Neurol. .  2007. 64:974-978.

Shy M, Swan E, Fuerst D.  Women and men are equally disabled by Charcot Marie Tooth disease type 1A.  Neurology.  2007. 68:873.

Shy M, Zuchner S, DeJonghe P, Jordanova A, Claeys , Guerguelcheva V, cherninkova S, Hamilton  S, Van Stavern  G, Krajewski K, Staijch J, Tourney I, Verhoeven K, de visser  M, Baas F, Bird T, Timmerman V, Vance J.  Axonal neuropathy with optic atrophy (HMSN VI) is caused by mutations in mitofusin 2.  Ann Neurol. .  2006. 59:276-281.

Shy M, Stanton M, Pannoni  V, Lewis R, Logigian E, Naguib D, Cleland J, Herrmann D.  Dispersion of compound muscle action poteintial in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy.  Muscle Nerve.  2006. 34:417-422.

Shy M, Bai  Y, Ianakova E, Pu Q, Ghandour  K, Levinson R, Martin J, Ceuterick de Groote  C, Mazanec R, Seeman P, Li J.  Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel sutypes.  Arch Neurol .  2006. 63:1787-1794.

Shy M, Li J, Bai Y, Ianakova E, Grandis M, Uchwan F, Trostinskaia A, Krajewski K, Garbern J, Kupsky W.  Major Myelin Protein Gene (P0) mutation causes a novel form of axonal degenertion.  J. Compar. Neurol. .  2006. 498:252-265.

Shy M, Verhoeven K, Claeys K, Zuchner S, Schroder J, Ceuterick C, Jordanova A, Nellis E, De Vriendt  E, van Hul  M, Seeman P, Mazanec R, Saifi M, Szgeti K, Kochanski A, Van den Bergh  P, Van coster  R, Rasic V, Nevo Y, Roelens J, Viere P, Vinci P, Moreno M, Christin H, Lupski J, Vance J, deJonghe P, Timmerman V.  Mitofusin 2 distribution and genotype/phenotype correlation in Charcot Marie Tooth type 2 neuropathy.  Brain.  2006. 129:2093-2102.

Shy M, Grandis  M.  Peripheral Neuropathies.  Elsevier, Philadelphia.  2006. 

Shy M.  Peripheral Neuropathies caused by mutations in the myelin protein zero.  J Neurol. Sci..  2006. 242:55-66.

Shy M, Sabet A, Li J, Ghandour K, Wu X, Kamholz J, Cambi F, Pu Q.  Skin biopsies demonstrate MPZ splicing abnormalities in Charcot Marie Tooth neuropathy 1B.  Neurology.  2006. 67:1141-1146.

Shy M, Scavina M, Clark A, Krajewski K, Li J, Kamholz E, Szigeti K, Fischer R, Saifi G, Scherer S, Lupski  J.  T118M PMP22 mutation causes partial loss of function and HNPP-like Neuropathy.  Ann. Neurol. .  2006. 59:358-364.

Shy M.  Therapeutic Strategies for the Inherited Neuropathies.  NeuroMolecular Med.  2006. 8:255-278.

Shy M, Rose  M.  Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it?.  Neurology (Editorial) .  2005. 65:790-791.

Shy M, Grandis M.  Current Therapy for Charcot Marie Tooth Disease.  Current Treatment Options in Neurology.  2005. 7:23-33.

Shy M, Krajewski K.  Genetic Neuropathies.  Continuum (Neurogenetics) .  2005. 11:27-59.

Shy M.  Inherited Neuropathies.  Lea & Febiger, Philadelphia.  2005. 

Shy M, Lewis  R, Li J.  Inherited Peripheral Neuropathies: Charcot Marie Tooth Disease.  2005. 

Shy M, Saifi G, Szigeti K, Wiszniewski  W, Krajewski K, Hausmanowa-Petrusewicz , Kochanski A, Reeser  S, Lupski J.  Litaf Mutations in CMT1.  Human Mutations.  2005. 25:372-378.

Shy M, Blake J, Krajewski K, Fuerst D, Laura M, Hahn A, Li J, Lewis R, Reilly M.  Reliability and validity of the CMT Neuropathy Score as a measure of disability.  Neurology.  2005. 64:1209-14.

Shy M, Li J, Bai Y, Grandis M, Gandour K, Pu Q, Grandis M, Trostinskaia A, Ianakova E, Wu X, Vallat J, Kupsky W, Hatfield J, Schenone A.  Skin biopsies in myelin related neuropathies .  Brain.  2005. 128:1168-1177.

Shy M.  The hereditary motor and sensory neuropathies (HMSN) related to MPZ (P0) mutations.  WB Saunders, Philadelphia.  2005. 

Shy M, Chance P, Lupski J, Klein C, Dyck P.  The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic, and morphologic features.  WB Saunders, Philadelphia.  2005. 

Shy M, Pedrola L, Espert A, Wu X, Claramunt R, Palau F.  The protein involved in Charcot Marie Tooth disease type 4A, GDAP1, is expressed in neurons and is associated with mitochondria.  Human Molecular Genetics.  2005. 14:1087-94.

Shy M.  Charcot Marie Tooth Disease; Au Update.  Current Opinion in Neurology.  2004. 17:579-587.

Shy M, Krajewski K.  Genetic testing in neuromuscular disease.  Neurology Clinics of North America.  2004. 22:481-508.

Shy M, Li J, Krajewski  K, Lewis R.  Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.  Muscle & Nerve.  2004. 29:205-210.

Shy M, Jani A, Krajewski K, Lewis R, Li J, Shy R, Balsama J, Lilien J, Garbern J, Kamholz .  Phenotypic clustering in CMT1B.  Brain.  2004. 127:37—384.

Shy M, Li J, Loeb J, Shah A, Tselis A, Kupski  W, Lewis R.  Acute Segmental Flaccid Paralysis: A Neuromuscular Presentation of West Nile Virus Infection.  Annals of Neurology .  2003. 53:703-710.

Shy M, Lewis R.  An approach to patients with peripheral neuropathy.  Continuum, Peripheral Neuropathy.  2003. 

Shy M.  Inherited Neuropathies, Continuum, Peripheral Neuropathy.  2003. 9:87-117.

Shy M, Lewis R, Li J, Fuerst  D, Krajewski K.  Motor Unit Number Estimate of Distal and Proximal Muscles in Charcot-Marie-Tooth Disease.  Muscle & Nerve .  2003. 28:161-167.

Shy M, Frohman E, So Y, Arezzo J, Cornblath D, Giuliani  M, Kincaid J, Ochoa J, Parry G, Weimer L.  Quantitative sensory testing; report of the therapeutics and technology assssment subcommittee of the American Academy of Neurology.  Neurology.  2003. 60:898-904.

Shy M, Hobson G, Jain M, Boespflug-Tanguy , Garbern  J, Sperle K, Li W, Gow A, Rodriguez D, Berlini B, Mancias P, Krajewski K, Lewis R, Kamholz J.  Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.  Ann Neurol .  2003. 53:354-365.

Paulson H, Garbern J, Hoban T, Krajewski K, Lewis R, Fischbeck K, Grossman R, Lenkinski R, Kamholz J, Shy M.  Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease..  Annals of neurology.  2002 October. 52(4):429-34.
[PubMed]

Shy M, Boerkoel C, Takashima H, Garcia C, Shooter E, Olney R, Johnson J, Berry K, Russo P, Kennedy  S, Davison R, Scavina M, Williams L, Mancias P, Butler I, Krajewski K, Lupski J.  Distribution and genotype-phenotype correlation of novel and recurrent MPZ, PMP22, and GJB1 mutations causing Charcot Marie Tooth and related neuropathies.  Ann Neurol.  2002. 51:190-201.

Shy M, Lewis R, Sumner A.  Electrophysiologic Features of Inherited Demyelinating Neuropathies:A Reappraisal in the Era of Molecular Diagnosis.  Saunders, Philadelphia.  2002. 

Shy M, Salles J, Sargueil F, Knoll-Gellida  A, Witters L, Jiang H, Cassagne  C, Garbay B.  Fatty acid synthase expression during peripheral nervous system myelination.  Molecular Brain Research.  2002. 101:52-58.

Shy M, Li J, Krajewski K, Lewis R.  Hereditary neuropathy with liability to pressure palsy: the electrophysiology .  Neurology.  2002. 58:1769-73.

Shy M, Acsadi G, Anguelov R, Yang H, Toth G, Thomas R, Jani  A, Wang Y, Ianakova E, Mohammad S, Lewis  R.  Increased survival and function of SOD-1after GDNF gene transfer .  Human Gene therapy.  2002. 13:1047-1059.

Shy M, Garbern J, Kamholz J.  Inherited peripheral neuropathies: a biological perspective.  Lancet Neurology.  2002. 1:110-118.

Shy M, Jordanova A, De Jonghe  P, Boerkoel  C, Takashima H, De Vriendt  E, Ceuterick C, Butler I, Mancias P, Sozos C, Papasozomenos M, Terespolski D, Potocki L, Brown C, Rita  D, Tourney I, Kremensky I, Lupski J, Timmerman V.  Mutations in the neurofilament light chain gene (NEFL) .  Brain.  2002. 126:590-597.

Shy M, Garbern J, Yool D, Moore G, Wilds I, Faulk M, Klugman M, Nave K, Sistermans E, van der Knaap M, Bird T, Kamholz J, Griffiths I.  Patients lacking the major CNS myelin protein, Proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.  Brain.  2002. 125:551-561.

Shy M, Paulson H, Hoban T, Krajewski K, Garbern J, Lewis  R, Fischbeck K, Grossman R, Kamholz J.  Transient CNS white matter abnormality in X-linked Charcot-Marie-Tooth disease.  Ann Neurol.  2002. 52:429-434.

Shy M, Balsamo J, Lilien J, Kamholz J.  A molecular basis for hereditary motor and sensory disorders.  Current Neurology and Neuroscience Reports.  2001. 

Shy M, Balsamo J, Lilien J, Kamholz J.  A molecular basis for hereditary motor and sensory neuropathy disorders.  Current Neurology and Neuroscience Reports.  2001. 1:77-88.

Shy M, Hinderer S, Lewis R, Kamholz J, Garbern J, Krajewski K.  Familial Neuropathies.  Mosby Philadelphia.  2001. 

Shy M, Balsamo J, Lilien J, Kamholz J.  Inherited demyelinating neuropathies: clues to pathogenesis.  Acta Myologica .  2001. 20:9-21.

Shy M.  Inherited Neuropathies.  2001. 

Shy M, Lewis  R.  Inherited Neuropathies in Neuromuscular Disease.  Butterworth-Heinemann.  2001. 

Shy M, Lewis R.  Inherited Peripheral Neuropathies.  Butterworth Heinemann Boston.  2001. 

Shy M, Xu W, 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. 155:439-46.

Shy M, Menichella D, Arroyo E, Awatramani R, Baron P, Vallat J, Balsamo J, Lilien J, Scarlato G, Kamholz J, Scherer S.  Protein Zero is necessary for E-cadherin mediated adherens junction formation in Schwann Cells.  Mol and Cell Neuroscience .  2001. 18:606-618.18.

Batourina E, Gim S, Bello N, Shy M, Clagett-Dame M, Srinivas S, Costantini F, Mendelsohn C.  Vitamin A controls epithelial/mesenchymal interactions through Ret expression..  Nature genetics.  2001 January. 27(1):74-8.
[PubMed]

Shy M, Xu W, Menichella D, Jiang H, Vallat J, Lilien J, Pierluigi B, Scarlato G, Kamholz J.  Absence of PO Leads to the Dysregulation of Myelin Gene Expression and Myelin Morphogenesis.  Journal of Neuroscience Research .  2000. 60:712-724.

Shy M, Jiang H, Duchala C, Awatramani R, Shumas S, Carlock L, Kamholz J, Garbern J, Scherer S.  Macklin W, PLP mRNA stability is regulated by axonal contact in the rodent PNS.  J. Neurobiol. .  2000. 44:7-19.

Shy M, Krajewski K, Lewis R, Fuerst  D, Turansky C, Hinderer S, Garbern J, Kamholz J.  Neurological Dysfunction Disability, in CMT 1A Results From Secondary Axonal.  Brain.  2000. 123:222-233.

Shy M, Krajewski K.  The neurologist and genetic testing in a neuromuscular clinic, invited editorial.  Journal of Clin Neuromuscular Disease.  2000. 1:172-174.

Shy M, Kamholz J, Menichella D, Jani A, Garbern J, Lewis R, Lilien J, Scherer S.  Tooth Disease Tooth Disease Type 1: molecular pathogensis to gene therapy.  Brain .  2000. 123:222-233.

Shy M, Lovelace  R, Kamholz J.  Charcot-Marie-Tooth Disorders.  1999 September. V883.

Shy M.  Axonal Loss in Inherited Demyelinating Neuropathies: Lessons from PMP-22 Mice.  Neurology, Network Commentary .  1999. 883:XV-1.

Shy M, Krajewski K, Turansky C, Lewis R, Garbern J, Hinderer S, Kamholz J.  Correlation between Weak-ness and Axonal Loss in Patients with CMT1A.  Ann. New York Acad. Sci..  1999. 883:490-493.

Shy M, Lewis R.  Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin.  Ann New York Acad. Sci..  1999. 883:504-508.

Shy M, Lewis R.  Electrodiagnostic Findings in CMTX: A Disorder of the Schwann Cell and Peripheral Nerve Myelin.  Ann. New York Acad. Sci. .  1999. 883:504-508.

Shy M, Lewis R, Sumner A.  Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.  Ann NYAcad Sci .  1999. 56:321-325 .

Shy M, Pareyson D, Menichella D, Botti S, Sghirlanzoni A, Fallica E, Mora M, Ciano C, Taroni F.  Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease.  Ann. New York Acad. Sci. .  1999. V883:477-481.

Shy M, Kamholz J, Lovelace R.  Introduction to the third international symposium on Charcot Marie Tooth disorders.  Ann. New York Acad. Sci..  1999. 56:1210-1214.

Shy M, Jani A, Menichella D, Jiang H, Chbihi  T, Acsadi G, Kamholz J.  Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve.  Hum. Gene Ther. .  1999. 10:787-800.

Shy M, Jani A, Menichella D, Jiang H, Acsadi G, Kamholz J.  Overcoming cellular immunity to prolong adenoviral mediated gene expression in sciatic nerve.  Ann. New York Acad. Sci..  1999. 56:389-397.

Shy M, Pareyson D, Menichella D, Botti S, Sghitlanzoni  A, Fallica E, Mora M, Ciano C.  Overcoming cellular immunity to prolong adenoviral-mediated gene expression in schiatic nerve.  Ann New York Acad. Sci. .  1999. 833:477-481.

Shy M, Garbern J, Lewis R, Bosch E, Sima A, Menichella D, Vallat J, Cambi F, Kamholz J.  Peripheral neuropathy caused by mutations of the proteolipid protein gene.  Ann. New York Acad. Sci. .  1999. 883:351-366.

Shy M, Cheng H, Feldman E.  Regulation of insulin like growth factor binding protein 5 expression during Schwann cell differentiation.  Endocrinology.  1999. 140:4478-4485.

Shy M, Cheng H, Feldman E.  Regulation of Insulin-Like Growth Factor-Binding Protein-5 Expression during Schwann Cell Differentiation.  Endocrinol..  1999. 140:4478-4485.

Shy M, Kamholz J, Awatramani R, Menichela D, Jiang  H.  Regulation of myelin-specific gene expession: relevance to CMT1.  Ann. New York Acad. Sci. .  1999. 833:91-109.

Shy M, Menichella  D, Xu W, Jiang H, Sohi J, Vallat J, Baron P, Kamholz J.  The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells.  Ann. New York Acad. Sci. .  1999. 883:281-294.

Shy M, Garbern J, Cambi F, Kamholz J.  The molecular pathogenesis of Pelizaeus-Merzbacher disease.  Arch. Neurol..  1999. 883:397-414.

Shy M, Dyck P, Kennedy  W, Kesserwani H, Melanson M, Ochoa J, Stevens  J, Suarez G, O'Brien P.  Limitations of quantitative sensory testing when patients are biased toward a bad outcome.  Neurology.  1998. 50:1213.

Shy M, Garbern J, Cambi F, Tang X, Sima A, Bosch E, Lewis R, Sohi  J, Kraft G, Vallat J, Chen K, Joshi I, Leonard D, Johnson W, Raskind  W, Dlouhy S, Pratt V, Hodes M, Bird T, Kamholz J.  Proteolipid Protein is Necessary in Peripheral As Well As Central Myelin.  Neuron.  1998. 19:205-218.

Shy M, Garbay B, Boiron-Sargueil  F, Chbihi T, Kamholz J, Cassagne C.  Regulation of the synthesis of oleoyl-CoA in the system: demonstration of a link with the myelin synthesis.  J. Neurochem. .  1998. 71:1719-1726.

Shy M, Kamholz J, Sladky J, Menichella D, Jiang H, Xu W, Scherer S.  Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP).  J. Neuropathol. Exp. Neurol..  1997. 56:811-821.

Shy M, Bird S, Brown M, Scherer S.  Autoimmune Demyelination Neuropathy Associated With Malignant Melanoma.  Neurology.  1996. 46:822-824.

Shy M, Shi Y, Wrabetz L, Kamholz J, Scherer  S.  Axon- Schwann cell interactions regulate the expression of c-jun in Schwann cells.  J. Neurosci. Res. .  1996. 45:511-525.

Shy M, Burgess R, Sosa M.  Quantitative sensory testing systems, Technology and equipment review.  J. Clin. Neurophys. .  1995. 12:192-202.

Shy M, Tani M, Scherer  S, Shi  Y, Kamholz J.  Towards the gene therapy of Charcot-Marie-Tooth disease type 1: An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve.  Ann. Neurol. .  1995. 38:429-436.

Shy M, Baron P, Honda H, Sessa M, Kamholz J, Pleasure D.  Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and spinal nerve roots of the rat.  J. Neurocytol. .  1994. 23:249-257.

Shy M, Kamholz J, 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. 3:451-452.

Shy M, Baron P, Kamholz J, Scarlato G, Pleasure D.  Expression of P0 protein mRNA along rat sciatic nerve during development.  Dev. Brain Res. .  1994. 83:285-288.

Shy M, Heiman-Patterson  T, Krupa T, Thompson P, Nobile-Orazio  E, Tahmoush A.  Anti-GM1/GD1b M-proteins damage human spinal cord neurons co-cultured with muscle.  J. Neurolog. Sci..  1993. 120:38-45.

Shy M, Baron P, Kamholz J, Scherer S, Honda H, 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. 121:139-147.

Shy M, Feltri M, Scherer S, Wrabetz L, Kamholz J.  Mitogen Expanded Schwann Cells Retain the Capacity to Myelinate Regenerating Axons Following Transplantation into Rat Sciatic Nerve.  PNAS.  1992. 

Shy M, Kamholz J, Sessa J, Behrman T, Scherer S, Mokuno K, Baron P, Vogelbacher H, Pleasure D.  Structure and Expression of Proteolipid Protein in the Peripheral Nervous System.  J. Neurosci. Res. .  1992. 31:231-244.

Shy M.  “Motor Neuron Diseases”.  WB Saunders, Philadelphia.  1991. 

Shy M, Smith B.  “Neuroimmunology and Aging” .  1991. 

Shy M.  “Paraneoplastic syndromes”.  WB Saunders, Philadelphia.  1991. 

Shy M, Baron P, Honda G, Pleasure D, Feltri L, Kamholz J.  Distribution of PLP and Po mRNA During Rat Peripheral Nerve Development.  New York Acad. Sci. (Annals).  1990. 

Shy M, Heiman-Patterson  T, Bird S, Parry G, Varga J, Culligan N, Edelsohn L, Tatarian G, Heyes M, Garcia C, Tahmoush A.  Peripheral Neuropathy Associated with Eosinophilia-Myalgia Syndrome.  Ann. Neurol..  1990. 28:522-528.

Shy M.  “Immunological Aspects of Motor Neuron Disease”.  Raven Press, New York.  1990. 

Shy M, Marcus D, Latov N, Hsi B, Gillard B, Antel J, Appel S, Callegro L, Daune G, Nobile-Orazio  E, Pestrunk A, Portoukalian J, Quarles R, Salazer-Grueso  E, Schneider L, Steck A.  Report of a Conference: Measurement and Significance of Antibodies against GM1 Ganglioside.  J. Neurol..  1989 December. 

Shy M, Evans V, Lublin F, Knobler R, Heiman-Patterson  T, Tahmoush A, Parry  G, Schick P, DeRyk T.  Antibodies to GM1 and GD1b in Patients with Motor Neuron Disease Without Plasma Cell Dyscrasia.  Ann. Neurol. .  1989. 25:511-513.

Latov N, Hays A, Donofrio P, Liao J, Ito H, McGinnis S, Konstadoulakis M, Freddo L, Shy M, Manoussos K.  Monoclonal IgM with unique specificity to gangliosides GM1 and GD1b and to lacto-N-tetraose associated with human motor neuron disease..  Neurology.  1988 May. 38(5):763-8.
[PubMed]

Shy M, Latov N, Hays A, Donofrio P, Kabat E, Liao  J, Hiroaki I, McGinnis S, Lonstandoulakis M, Freddo L, Sherman W, Chang H, Yu R, Rowland L.  Monoclonal IgM with Unique Reactivity to Gangliosides GM1 and GD1b and to Lacto-N-Tetraose in Two Patients with Motor Neuron Disease.  Neurology.  1988. 38:763-769.

Shy M, Gabel C, Vietorisz E, Latov N.  Characterization of Oliogosaccharides that Bind to Anti-MAG M-Proteins.  Neuroimmunol..  1986. 12:291-298.

Shy M, Freddo L, Hays A, Nickerson K, Spatz  L, McGinnis S, Lieberson R, Vedeler C, Autilio-Gambetti  T, Grauss F, Petito F, Chess L, Latov N.  Monoclonal anti-DNA IgM in Neuropathy Binds to Myelin and to Conformational Epitope Formed by Phosphatidic Acid and Gangliosides.  J. Immunol. .  1986. 137:3281-3826.

Shy M, Rowland L, Smith T, Trojaborg W, Latov N, Sherman W, Osserman E.  Motor Neuron Disease and Plasma Cell Dysrasia.  Neurology.  1986. 36:1429-1436.

Shy M, Nobile-Orazio  E, Hay A, Latov N, Perman G, Golier J, Freddo L.  Reactivity of Mouse and Human Monoclonal Anti-MAG Antibodies; Antigenic Specificity and Immunofluroescence Studies.  Neurology.  1984. 34:1336-1342.

Shy M, Vietorisz T, Nobile-Orazio  E, Latov N.  Specificity of Human IgM M-Proteins that Bind to the Myelin Associated Gylcoprotein; Peptide Mapping, Deglycosylation and Competitive Binding Studies.  J. Immunol. .  1984. 133:2509-2512.

Shy M, Cacace A, Satya-Murti  S.  Brainstem Auditory Evoked Potentials; A Comparison of Two High Frequency Filter Settings.  Neurology.  1980. 30(767).

Shy M, Acsadi A, Krajewski K.  Charcot Marie Tooth Neuropathies: Diagnosis and Management.  Thieme Medical Publishers. 

Shy M, Huang J, Price J, Montenegro G, Wang G, Wu X, Vance J, Züchner S.  Copy number variations are a rare cause of CMT1A.  J Neurology.  257:735-741.

Shy M, Kamholz J.  Inherited Neuropathies.  Neurobase. 

Shy M, Li J, Lewis R.  Inherited Peripheral Neuropathies. 

Shy M, Kennerson M, Nicholson G, Kaler S, Kowalski B, Mercer J, Tang J, Llanos R, Chu S, Takata R, Speck-Martins C, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor P, Scherer S, Ferguson T, Bird T, De Jonghe P, Feely S, Garbern J.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.  Am J Hum Genet.  86:343-352.

Shy M.  Peripheral Neuropathies.  Saunders/Elsevier, Philadelphia. 

Shy M, Siskind C, Feely S, Bernses S, Garbern .  Persistent CNS dysfunction in a boy with CMT1X.  J. Neurol. Sci.. 

Shy M, Szigeti  K, Lupski J.  Practice Guidelines: ACMG practice guideline for genetic testing in Charcot-Marie-Tooth disease and related peripheral neuropathies.  American College of Clinical Genetics. 

Shy M.  “Autoantibodies and Motor Neuron Disease”. 

Shy M.  “Peripheral Neuropathy”.  WB Saunders, Philadelphia. 

Date Last Modified: 07/16/2014 - 14:49:02