Michael E. Shy, MD

Portrait
Attending Neurologist
Specialty: Neuromuscular Disease
Director, Division of Neuromuscular Medicine, Neurology
Professor of Neurology
Professor of Pediatrics
Professor of Molecular Physiology and Biophysics

Contact Information

Office: 2157 RCP
Iowa City, IA 52242
319-384-6362

Education

BA, History, University of Pennsylvania
MD, Medicine, Albany Medical College

Internship, Internal Medicine, Albany Medical Center
Resident, Columbia Presbyterian Medical Center
Fellow, Clinical Neuroscience Training Program, Columbia Presbyterian Medical Center
Fellow, Neuroimmunology, Muscular Dystrophy Association

Licensure and Certifications

Iowa MD license
Michigan 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.

Publications

Brennan, K. M., Bai, Y. & Shy, M. E. (2017). Genetic peripheral neuropathies. In K. F. Swaiman , S. Ashwal & et al (Eds.) Swaiman's Pediatric Neurology: Principles and Practice. (Sixth edition) Elsevier.

Khavari, R., Karmonik, C., Shy, M., Fletcher, S. & Boone, T. (2017). Functional Magnetic Resonance Imaging with Concurrent Urodynamic Testing Identifies Brain Structures Involved in Micturition Cycle in Patients with Multiple Sclerosis. The Journal of Urology, 197(2), 438-444. DOI: 10.1016/j.juro.2016.09.077.

Panosyan, F., Mountain, J., Reilly, M., Shy, M. & Herrmann, D. (2016). Rydel-Seiffer fork revisited: Beyond a simple case of black and white. Neurology, 87(7), 738–740. DOI: 10.1212/WNL.0000000000002991.

Jerath, N. U., Gutmann, L., Reddy, C. G. & Shy, M. E. (2016). Charcot-marie-tooth disease type 1x in women: Electrodiagnostic findings. Muscle & nerve. PMID: 26873881.

Cornett, K., Menezes, M., Bray, P., Halaki, M., Shy, R., Yum, S., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Pareyson, D., Laurá, M., Bhandari, T., Muntoni, F., Reilly, M., Finkel, R., Sowden, J., Eichinger, K., Herrmann, D., Shy, M., Burns, J., Scherer, S., Züchner, S., Saporta, M., Lloyd, T., Li, J., Weiss, M., Fischbeck, K., Day, J., Baloh, R., Lewis, R., Fridman, V., Ramchandren, S., Walk, D., Johnson, N., Acsadi, G., Baets, J. & Krischer, J. (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73(6), 645–651. DOI: 10.1001/jamaneurol.2016.0171.

Pisciotta, C., Shy, M. E. (2016). Inherited peripheral neuropathies. In L. P. Rowland , E. D. Louis , S. A. Mayer (Eds.) Merritt's Neurology. (13th edition), pp. Chapter 88. Philadelphia, PA: Wolters Kluwer.

Shy, M. (2016). Gene therapy, CMT1X, and the inherited neuropathies. Proceedings of the National Academy of Sciences of the United States of America, 113(17), 4552–4554. DOI: 10.1073/pnas.1604005113.

Sanmaneechai, O., Swenson, A., Gerke, A. K., Moore, S. A. & Shy, M. E. (2015). Inclusion body myositis and sarcoid myopathy: coincidental occurrence or associated diseases. Neuromuscular disorders : NMD, 25(4), 297-300. PMID: 25599912.

Brennan, K. M., Shy, M. E. (2015). Hereditary Neuropathies in Late Childhood and Adolescence. In D. C. DeVivo , B. T. Darras , K. Mathews (Eds.) Neuromuscular Disorders of Infancy, Childhood, and Adolescence. pp. 319-339. Elsevier BV. DOI: 10.1016/b978-0-12-417044-5.00017-2.

Saporta, M. A., Shy, M. E. (2015). Peripheral neuropathies. In M. J. Zigmond , J. T. Coyle , L. P. Rowland (Eds.) Neurobiology of Brain Disorders : Biological Basis of Neurological and Psychiatric Disorders. London: Academic Press ; Elsevier.

Jerath, N. U., Shy, M. E. (2015). Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies. Biochimica et biophysica acta, 1852(4), 667-78. PMID: 25108281.

Saporta, M. A., Dang, V., Volfson, D., Zou, B., Xie, X. S., Adebola, A., Liem, R. K., Shy, M. & Dimos, J. T. (2015). Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Experimental neurology, 263, 190-9. PMID: 25448007.

Jerath, N. U., Kamholz, J., Grider, T., Harper, A., Swenson, A. & Shy, M. E. (2015). Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion. Muscle & nerve, 52(5), 905-8. PMID: 26012543.

Nolano, M., Manganelli, F., Provitera, V., Pisciotta, C., Stancanelli, A., Caporaso, G., Iodice, R., Shy, M. E. & Santoro, L. (2015). Small nerve fiber involvement in CMT1A. Neurology, 84(4), 407-14. PMID: 25540311.

Brennan, K. M., Shy, M. E. (2015). New and emerging treatments of Charcot–Marie–Tooth disease. Expert Opinion on Orphan Drugs, 3(2), 151–164. DOI: 10.1517/21678707.2015.1009037.

Johnson, N. E., Sowden, J., Dilek, N., Eichinger, K., Burns, J., Mcdermott, M. P., Shy, M. E. & Herrmann, D. N. (2015). Prospective study of muscle cramps in Charcot-Marie-tooth disease. Muscle & nerve, 51(4), 485-8. PMID: 25042364.

Shy, M. E. (2015). Ultrasound: the future for evaluating the PNS in humans?. (Vols. 86). (4), pp. 362. Journal of neurology, neurosurgery, and psychiatry. PMID: 25246646.

Parker, B., Alexander, R., Wu, X., Feely, S., Shy, M., Schnetz-Boutaud, N. & Li, J. (2015). Detection of copy number variation by SNP-allelotyping. Journal of neurogenetics, 29(1), 4-7. PMID: 24830919.

Jerath, N. U., Crockett, C. D., Moore, S. A., Shy, M. E., Weihl, C. C., Chou, T. F., Grider, T., Gonzalez, M. A., Zuchner, S. & Swenson, A. (2015). Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Case reports in genetics, 2015, 239167. PMID: 25878907.

Strickland, A. V., Schabhüttl, M., Offenbacher, H., Synofzik, M., Hauser, N. S., Brunner-Krainz, M., Gruber-Sedlmayr, U., Moore, S. A., Windhager, R., Bender, B., Harms, M., Klebe, S., Young, P., Kennerson, M., Garcia, A. S., Gonzalez, M. A., Züchner, S., Schule, R., Shy, M. E. & Auer-Grumbach, M. (2015). Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of neurology, 262(9), 2124-34. PMID: 26100331.

Gutmann, L., Shy, M. (2015). Update on Charcot-Marie-Tooth disease. Current opinion in neurology, 28(5), 462-7. PMID: 26263471.

Manganelli, F., Nolano, M., Pisciotta, C., Provitera, V., Fabrizi, G. M., Cavallaro, T., Stancanelli, A., Caporaso, G., Shy, M. E. & Santoro, L. (2015). Charcot-Marie-Tooth disease: New insights from skin biopsy. Neurology, 85(14), 1202-8. PMID: 26362287.

Sanmaneechai, O., Feely, S., Scherer, S. S., Herrmann, D. N., Burns, J., Muntoni, F., Li, J., Siskind, C. E., Day, J. W., Laura, M., Sumner, C. J., Lloyd, T. E., Ramchandren, S., Shy, R. R., Grider, T., Bacon, C., Finkel, R. S., Yum, S. W., Moroni, I., Piscosquito, G., Pareyson, D., Reilly, M. M. & Shy, M. E. (2015). Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain : a journal of neurology, 138(Pt 11), 3180-92. PMID: 26310628.

Ramchandren, S., Shy, M., Feldman, E., Carlos, R. & Siskind, C. (2015). Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease. Journal of neurology, neurosurgery, and psychiatry, 86(6), 635-9. PMID: 25157034.

Brennan, K. M., Bai, Y., Pisciotta, C., Wang, S., Feely, S. M., Hoegger, M., Gutmann, L., Moore, S. A., Gonzalez, M., Sherman, D. L., Brophy, P. J., Züchner, S. & Shy, M. E. (2015). Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD, 25(10), 786-93. PMID: 26227883.

Brennan, K. M., Bai, Y. & Shy, M. E. (2015). Demyelinating CMT--what's known, what's new and what's in store?. Neuroscience letters, 596, 14-26. PMID: 25625223.

Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L. B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S. N., Bainbridge, M. N., Lawson, K. S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P. J., Goksungur, M. T., Shy, M., Crawford, T. O., Koenig, M., Willer, J., Flores, B. N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D. M., Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R. A. & Lupski, J. R. (2015). Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell reports, 12(7), 1169-83. PMID: 26257172.

Jerath, N. U., Shy, M. E., Grider, T. & Gutmann, L. (2015). A case of neuromyotonia and axonal motor neuropathy: A report of a HINT 1 mutation in the United States. Muscle & nerve. PMID: 26182879.

Pisciotta, C., Bai, Y., Brennan, K. M., Wu, X., Grider, T., Feely, S., Wang, S., Moore, S., Siskind, C., Gonzalez, M., Zuchner, S. & Shy, M. E. (2015). Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. Neurology, 85(3), 228-34. PMID: 26109717.

Fridman, V., Bundy, B., Reilly, M. M., Pareyson, D., Bacon, C., Burns, J., Day, J., Feely, S., Finkel, R. S., Grider, T., Kirk, C. A., Herrmann, D. N., Laurá, M., Li, J., Lloyd, T., Sumner, C. J., Muntoni, F., Piscosquito, G., Ramchandren, S., Shy, R., Siskind, C. E., Yum, S. W., Moroni, I., Pagliano, E., Zuchner, S., Scherer, S. S. & Shy, M. E. (2015). CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Journal of neurology, neurosurgery, and psychiatry, 86(8), 873-8. PMID: 25430934.

Tousignant, R., Trepanier, A., Shy, M. E. & Siskind, C. E. (2014). Genetic testing practices for Charcot-Marie-Tooth type 1A disease. Muscle & nerve, 49(4), 478-82. PMID: 23963961.

Saporta, M., Shy, M. (2014). Peripheral Neuropathies. In Neurobiology of Brain Disorders: Biological Basis of Neurological and Psychiatric Disorders. pp. 167–188. Vitalsource Technologies, Inc..

Sadjadi, R., Reilly, M. M., Shy, M. E., Pareyson, D., Laura, M., Murphy, S., Feely, S. M., Grider, T., Bacon, C., Piscosquito, G., Calabrese, D. & Burns, T. M. (2014). Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis. Journal of the peripheral nervous system : JPNS, 19(3), 192-6. PMID: 25400013.

Ramchandren, S., Jaiswal, M., Feldman, E. & Shy, M. (2014). Effect of pain in pediatric inherited neuropathies. Neurology, 82(9), 793-7. PMID: 24477108.

Johnson, N. E., Heatwole, C. R., Dilek, N., Sowden, J., Kirk, C. A., Shereff, D., Shy, M. E. & Herrmann, D. N. (2014). Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective. Neuromuscular disorders : NMD, 24(11), 1018-23. PMID: 25092060.

Brewer, M. H., Ma, K. H., Beecham, G. W., Gopinath, C., Baas, F., Choi, B. O., Reilly, M. M., Shy, M. E., Züchner, S., Svaren, J. & Antonellis, A. (2014). Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. Human molecular genetics, 23(19), 5171-87. PMID: 24833716.

Gonzalez, M. A., Feely, S. M., Speziani, F., Strickland, A. V., Danzi, M., Bacon, C., Lee, Y., Chou, T. F., Blanton, S. H., Weihl, C. C., Zuchner, S. & Shy, M. E. (2014). A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain : a journal of neurology, 137(Pt 11), 2897-902. PMID: 25125609.

Mannil, M., Solari, A., Leha, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Walter, M. C., Rautenstrauss, B., Schnizer, T. J., Schenone, A., Seeman, P., Kadian, C., Schreiber, O., Angarita, N. G., Fabrizi, G. M., Gemignani, F., Padua, L., Santoro, L., Quattrone, A., Vita, G., Calabrese, D., Young, P., Laurà, M., Haberlová, J., Mazanec, R., Paulus, W., Beissbarth, T., Shy, M. E., Reilly, M. M., Pareyson, D. & Sereda, M. W. (2014). Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients. Neuromuscular disorders : NMD, 24(11), 1003-17. PMID: 25085517.

Shy, M., Fung, S., Boone, T. B., Karmonik, C., Fletcher, S. G. & Khavari, R. (2014). Functional magnetic resonance imaging during urodynamic testing identifies brain structures initiating micturition. The Journal of urology, 192(4), 1149-54. PMID: 24769029.

Komyathy, K., Neal, S., Feely, S., Miller, L. J., Lewis, R. A., Trigge, G., Siskind, C. E., Shy, M. E. & Ramchandren, S. (2013). Anterior tibialis CMAP amplitude correlations with impairment in CMT1A. Muscle & nerve, 47(4), 493-6. PMID: 23456782.

Bai, Y., Patzko, A. & Shy, M. E. (2013). Unfolded protein response, treatment and CMT1B. Rare diseases (Austin, Tex.), 1, e24049. PMID: 25002989.

Shy, M., Fletcher, S. G. (2013). Objective Evaluation of Overactive Bladder: Which Surveys Should I Use?. Current bladder dysfunction reports, 8(1), 45-50. PMID: 23439804.

Saporta, M. A., Shy, M. E. (2013). Inherited peripheral neuropathies. Neurologic clinics, 31(2), 597-619. PMID: 23642725.

Klein, C. J., Duan, X. & Shy, M. E. (2013). Inherited neuropathies: clinical overview and update. Muscle & nerve, 48(4), 604-22. PMID: 23801417.

Burns, J., Menezes, M., Finkel, R. S., Estilow, T., Moroni, I., Pagliano, E., Laurá, M., Muntoni, F., Herrmann, D. N., Eichinger, K., Shy, R., Pareyson, D., Reilly, M. M. & Shy, M. E. (2013). Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS, 18(2), 177-80. PMID: 23781965.

Eschbach, J., Sinniger, J., Bouitbir, J., Fergani, A., Schlagowski, A. I., Zoll, J., Geny, B., René, F., Larmet, Y., Marion, V., Baloh, R. H., Harms, M. B., Shy, M. E., Messadeq, N., Weydt, P., Loeffler, J. P., Ludolph, A. C. & Dupuis, L. (2013). Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Neurobiology of disease, 58, 220-30. PMID: 23742762.

Nobile-Orazio, E., Léger, J. M., Lewis, R. A., Bolino, A., Shy, M. E. & Cornblath, D. R. (2013). Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013. (Vols. 18). (3), pp. 197-8. Journal of the peripheral nervous system : JPNS. PMID: 24028187.

Lewis, R. A., McDermott, M. P., Herrmann, D. N., Hoke, A., Clawson, L. L., Siskind, C., Feely, S. M., Miller, L. J., Barohn, R. J., Smith, P., Luebbe, E., Wu, X. & Shy, M. E. (2013). High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA neurology, 70(8), 981-7. PMID: 23797954.

Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Masi, S., Allred, P., Al-Lozi, M., Reilly, M. M., Miller, L. J., Jani-Acsadi, A., Pestronk, A., Shy, M. E., Muntoni, F., Vallee, R. B. & Baloh, R. H. (2012). Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology, 78(22), 1714-20. PMID: 22459677.

Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laurá, M., Pallant, J. F., Lek, M., Muntoni, F., Reilly, M. M., Pareyson, D., Acsadi, G., Shy, M. E. & Finkel, R. S. (2012). Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Annals of neurology, 71(5), 642-52. PMID: 22522479.

Patzko, A., Shy, M. E. (2012). Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneapolis, Minn.), 18(1), 39-59. PMID: 22810069.

Prada, V., Passalacqua, M., Bono, M., Luzzi, P., Scazzola, S., Nobbio, L. A., Capponi, S., Bellone, E., Mandich, P., Mancardi, G., Shy, M., Schenone, A. & Grandis, M. (2012). Gain of glycosylation: a new pathomechanism of myelin protein zero mutations. Annals of neurology, 71(3), 427-31. PMID: 22451207.

Shy, M. E. (2012). Peripheral Neuropathies. In L. Goldman , A. I. Schafer (Eds.) Goldman's Cecil Medicine. pp. 2396-2409. Elsevier BV. DOI: 10.1016/b978-1-4377-1604-7.00428-0.

Miller, L. J., Patzko, A., Lewis, R. A. & Shy, M. E. (2012). Phenotypic presentation of the Ser63Del MPZ mutation. Journal of the peripheral nervous system : JPNS, 17(2), 197-200. PMID: 22734905.

Eisenberg, M. L., Shy, M., Walters, R. C. & Lipshultz, L. I. (2012). The relationship between anogenital distance and azoospermia in adult men. International journal of andrology, 35(5), 726-30. PMID: 22519659.

Eisenberg, M. L., Shy, M., Herder, D., Walters, R. C. & Lipshultz, L. I. (2012). The relationship between anogenital distance and the efficacy of varicocele repair. BJU international, 110(11 Pt C), E927-30. PMID: 22520827.

Patzkó, A., Bai, Y., Saporta, M. A., Katona, I., Wu, X., Vizzuso, D., Feltri, M. L., Wang, S., Dillon, L. M., Kamholz, J., Kirschner, D., Sarkar, F. H., Wrabetz, L. & Shy, M. E. (2012). Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain : a journal of neurology, 135(Pt 12), 3551-66. PMID: 23250879.

Murphy, S. M., Ovens, R., Polke, J., Siskind, C. E., Laurà, M., Bull, K., Ramdharry, G., Houlden, H., Murphy, R. P., Shy, M. E. & Reilly, M. M. (2012). X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD, 22(7), 617-21. PMID: 22483671.

Shy, M. E. (2012). Lessons from London. (Vols. 83). (8), pp. 767-8. Journal of neurology, neurosurgery, and psychiatry. PMID: 22696588.

Saporta, M. A., Shy, B. R., Patzko, A., Bai, Y., Pennuto, M., Ferri, C., Tinelli, E., Saveri, P., Kirschner, D., Crowther, M., Southwood, C., Wu, X., Gow, A., Feltri, M. L., Wrabetz, L. & Shy, M. E. (2012). MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain : a journal of neurology, 135(Pt 7), 2032-47. PMID: 22689911.

Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laurá, M., Eichinger, K., Muntoni, F., Reilly, M. M., Pareyson, D., Acsadi, G., Shy, M. E. & Finkel, R. S. (2012). Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clinical biomechanics (Bristol, Avon), 27(7), 744-7. PMID: 22424781.

Katona, I., Zhang, X., Bai, Y., Shy, M. E., Guo, J., Yan, Q., Hatfield, J., Kupsky, W. J. & Li, J. (2011). Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. The European journal of neuroscience, 33(8), 1401-10. PMID: 21410794.

Shy, M. E. (2011). Inherited peripheral neuropathies. Continuum (Minneapolis, Minn.), 17(2 Neurogenetics), 294-315. PMID: 22810821.

Patzkó, A., Shy, M. E. (2011). Update on Charcot-Marie-Tooth disease. Current neurology and neuroscience reports, 11(1), 78-88. PMID: 21080241.

Montenegro, G., Powell, E., Huang, J., Speziani, F., Edwards, Y. J., Beecham, G., Hulme, W., Siskind, C., Vance, J., Shy, M. & Züchner, S. (2011). Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Annals of neurology, 69(3), 464-70. PMID: 21254193.

Feely, S. M., Laura, M., Siskind, C. E., Sottile, S., Davis, M., Gibbons, V. S., Reilly, M. M. & Shy, M. E. (2011). MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology, 76(20), 1690-6. PMID: 21508331.

Saporta, A. S., Sottile, S. L., Miller, L. J., Feely, S. M., Siskind, C. E. & Shy, M. E. (2011). Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Annals of neurology, 69(1), 22-33. PMID: 21280073.

Saporta, M. A., Katona, I., Zhang, X., Roper, H. P., McClelland, L., Macdonald, F., Brueton, L., Blake, J., Suter, U., Reilly, M. M., Shy, M. E. & Li, J. (2011). Neuropathy in a human without the PMP22 gene. Archives of neurology, 68(6), 814-21. PMID: 21670407.

Miller, L. J., Saporta, A. S., Sottile, S. L., Siskind, C. E., Feely, S. M. & Shy, M. E. (2011). Strategy for genetic testing in Charcot-Marie-disease. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases, 30(2), 109-16. PMID: 22106713.

Siskind, C. E., Murphy, S. M., Ovens, R., Polke, J., Reilly, M. M. & Shy, M. E. (2011). Phenotype expression in women with CMT1X. Journal of the peripheral nervous system : JPNS, 16(2), 102-7. PMID: 21692908.

Siskind, C. E., Shy, M. E. (2011). Genetics of neuropathies. Seminars in neurology, 31(5), 494-505. PMID: 22266887.

Shy, M. E., Patzkó, A. (2011). Axonal Charcot-Marie-Tooth disease. Current opinion in neurology, 24(5), 475-83. PMID: 21892080.

Almodovar, J. L., Ferguson, M., McDermott, M. P., Lewis, R. A., Shy, M. E. & Herrmann, D. N. (2011). In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A. Journal of the peripheral nervous system : JPNS, 16(3), 169-74. PMID: 22003930.

Murphy, S. M., Herrmann, D. N., McDermott, M. P., Scherer, S. S., Shy, M. E., Reilly, M. M. & Pareyson, D. (2011). Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS, 16(3), 191-8. PMID: 22003934.

Bai, Y., Zhang, X., Katona, I., Saporta, M. A., Shy, M. E., O'Malley, H. A., Isom, L. L., Suter, U. & Li, J. (2010). Conduction block in PMP22 deficiency. The Journal of neuroscience : the official journal of the Society for Neuroscience, 30(2), 600-8. PMID: 20071523.

Huang, S. Y., Chen, H. K., Ma, K. H., Shy, M. J., Chen, J. H., Lin, W. C. & Lu, R. B. (2010). Association of promoter variants of human dopamine transporter gene with schizophrenia in Han Chinese. Schizophrenia research, 116(1), 68-74. PMID: 19879111.

Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., Fischer, D., Timmerman, V., Taylor, P. E., Scherer, S. S., Ferguson, T. A., Bird, T. D., De Jonghe, P., Feely, S. M., Shy, M. E. & Garbern, J. Y. (2010). Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American journal of human genetics, 86(3), 343-52. PMID: 20170900.

Shy, M. E. (2010). Inherited neuropathies. In L. P. Rowland , T. P. Pedley , H. H. Merritt (Eds.) Merritt's Neurology. (Twelfth Edition), pp. 816-822. Philadelphia, PA: Lippincott Williams & Wilkins.

Lin, C. H., Lin, S. Y., Yang, Y. H., Shih, J. C., Shy, M. K., Lee, C. N. & Yang, Y. S. (2010). Extremely preterm cesarean delivery "en caul". Taiwanese journal of obstetrics & gynecology, 49(3), 254-9. PMID: 21056307.

Reilly, M. M., Shy, M. E., Muntoni, F. & Pareyson, D. (2010). 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). (Vols. 20). (12), pp. 839-46. Neuromuscular disorders : NMD. PMID: 20850975.

Huang, J., Wu, X., Montenegro, G., Price, J., Wang, G., Vance, J. M., Shy, M. E. & Züchner, S. (2010). Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. Journal of neurology, 257(5), 735-41. PMID: 19949810.

Burns, J., Ramchandren, S., Ryan, M. M., Shy, M. & Ouvrier, R. A. (2010). Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology, 75(8), 726-31. PMID: 20733147.

Shy, M. E. (2010). MUNE and progression of CMT1A. (Vols. 17). (8), pp. 997-8. European journal of neurology : the official journal of the European Federation of Neurological Societies. PMID: 20491890.

Chang, H. A., Lu, R. B., Shy, M. J., Chang, C. C., Lee, M. S. & Huang, S. Y. (2009). Brain-derived neurotrophic factor Val66Met polymorphism: association with psychopathological symptoms of schizophrenia?. The Journal of neuropsychiatry and clinical neurosciences, 21(1), 30-7. PMID: 19359449.

Shy, M. E. (2009). Biology of peripheral inherited neuropathies: Schwann cell axonal interactions. Advances in experimental medicine and biology, 652, 171-81. PMID: 20225025.

Nicholson, G., Kennerson, M., Brewer, M., Garbern, J. & Shy, M. (2009). Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. Advances in experimental medicine and biology, 652, 201-6. PMID: 20225027.

Huang, S. Y., Lin, M. T., Lin, W. W., Huang, C. C., Shy, M. J. & Lu, R. B. (2009). Association of monoamine oxidase A (MAOA) polymorphisms and clinical subgroups of major depressive disorders in the Han Chinese population. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 10(4 Pt 2), 544-51. PMID: 19224413.

Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M. & Garbern, J. (2009). X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. Neurology, 72(3), 246-52. PMID: 19153371.

Ramchandren, S., Shy, M. E. & Finkel, R. S. (2009). Quality of life in children with CMT type 1A. (Vols. 8). (10), pp. 880-1; author reply 881. The Lancet. Neurology. PMID: 19747650.

Saporta, M. A., Katona, I., Lewis, R. A., Masse, S., Shy, M. E. & Li, J. (2009). Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain : a journal of neurology, 132(Pt 12), 3263-73. PMID: 19923170.

Siskind, C., Feely, S. M., Bernes, S., Shy, M. E. & Garbern, J. Y. (2009). Persistent CNS dysfunction in a boy with CMT1X. Journal of the neurological sciences, 279(1-2), 109-13. PMID: 19193385.

Reilly, M. M., Shy, M. E. (2009). Diagnosis and new treatments in genetic neuropathies. Journal of neurology, neurosurgery, and psychiatry, 80(12), 1304-14. PMID: 19917815.

Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E. & Li, J. (2009). PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain : a journal of neurology, 132(Pt 7), 1734-40. PMID: 19447823.

Shy, M. (2009). Ascorbic acid for treatment of CMT1A: the jury is still out. (Vols. 8). (6), pp. 505-7. The Lancet. Neurology. PMID: 19427270.

Shy, M., Chakrabarti, S. & Gintzler, A. R. (2008). Plasticity of adenylyl cyclase-related signaling sequelae after long-term morphine treatment. Molecular pharmacology, 73(3), 868-79. PMID: 18045853.

Padua, L., Shy, M. E., Aprile, I., Cavallaro, T., Pareyson, D., Quattrone, A., Rizzuto, N., Vita, G., Tonali, P. & Schenone, A. (2008). Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. Journal of the peripheral nervous system : JPNS, 13(1), 64-70. PMID: 18346232.

Shy, M. E., Chen, L., Swan, E. R., Taube, R., Krajewski, K. M., Herrmann, D., Lewis, R. A. & McDermott, M. P. (2008). Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology, 70(5), 378-83. PMID: 18227419.

Huang, S. Y., Lu, R. B., Ma, K. H., Shy, M. J. & Lin, W. W. (2008). Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups. Drug and alcohol dependence, 92(1-3), 20-6. PMID: 17630229.

Jani-Acsadi, A., Krajewski, K. & Shy, M. E. (2008). Charcot-Marie-Tooth neuropathies: diagnosis and management. Seminars in neurology, 28(2), 185-94. PMID: 18351520.

Sheth, S., Francies, K., Siskind, C. E., Feely, S. M., Lewis, R. A. & Shy, M. E. (2008). Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. Journal of the peripheral nervous system : JPNS, 13(4), 299-304. PMID: 19192070.

Huang, S. Y., Lin, M. T., Shy, M. J., Lin, W. W., Lin, F. Y. & Lu, R. B. (2008). Neither single-marker nor haplotype analyses support an association between monoamine oxidase A gene and bipolar disorder. European archives of psychiatry and clinical neuroscience, 258(6), 350-6. PMID: 18437281.

Shy, M. E. (2008). Obstructive sleep apnoea and CMT1A: answers and more questions. (Vols. 79). (7), pp. 743-4. Journal of neurology, neurosurgery, and psychiatry. PMID: 18559457.

Gooch, C., Shy, M. (2008). Hereditary motor neuropathy and heat shock proteins: a shocking transformation. (Vols. 71). (21), pp. 1656-7. Neurology. PMID: 19015482.

Chung, K. W., Suh, B. C., Shy, M. E., Cho, S. Y., Yoo, J. H., Park, S. W., Moon, H., Park, K. D., Choi, K. G., Kim, S., Kim, S. B., Shim, D. S., Kim, S. M., Sunwoo, I. N. & Choi, B. O. (2008). Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscular disorders : NMD, 18(8), 610-8. PMID: 18602827.

Grandis, M., Vigo, T., Passalacqua, M., Jain, M., Scazzola, S., La Padula, V., Brucal, M., Benvenuto, F., Nobbio, L., Cadoni, A., Mancardi, G. L., Kamholz, J., Shy, M. E. & Schenone, A. (2008). Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Human molecular genetics, 17(13), 1877-89. PMID: 18337304.

Zhang, X., Chow, C. Y., Sahenk, Z., Shy, M. E., Meisler, M. H. & Li, J. (2008). Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain : a journal of neurology, 131(Pt 8), 1990-2001. PMID: 18556664.

Li, J., Ghandour, K., Radovanovic, D., Shy, R. R., Krajewski, K. M., Shy, M. E. & Nicholson, G. A. (2007). Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Archives of neurology, 64(7), 974-8. PMID: 17620487.

Chow, C. Y., Zhang, Y., Dowling, J. J., Jin, N., Adamska, M., Shiga, K., Szigeti, K., Shy, M. E., Li, J., Zhang, X., Lupski, J. R., Weisman, L. S. & Meisler, M. H. (2007). Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature, 448(7149), 68-72. PMID: 17572665.

Kim, H. J., Sohn, K. M., Shy, M. E., Krajewski, K. M., Hwang, M., Park, J. H., Jang, S. Y., Won, H. H., Choi, B. O., Hong, S. H., Kim, B. J., Suh, Y. L., Ki, C. S., Lee, S. Y., Kim, S. H. & Kim, J. W. (2007). 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). American journal of human genetics, 81(3), 552-8. PMID: 17701900.

Gaboreanu, A. M., Hrstka, R., Xu, W., Shy, M., Kamholz, J., Lilien, J. & Balsamo, J. (2007). Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha. The Journal of cell biology, 177(4), 707-16. PMID: 17502419.

Shy, M. E., Kamholz, J. & Li, J. (2007). Mutations in Schwann cell genes causing inherited neuropathies. In P. J. Armati (Eds.) The Biology of Schwann Cells. pp. 126-157. Cambridge University Press (CUP). DOI: 10.1017/cbo9780511541605.009.

Shy, M. E., Siskind, C., Swan, E. R., Krajewski, K. M., Doherty, T., Fuerst, D. R., Ainsworth, P. J., Lewis, R. A., Scherer, S. S. & Hahn, A. F. (2007). CMT1X phenotypes represent loss of GJB1 gene function. Neurology, 68(11), 849-55. PMID: 17353473.

Aboussouan, L. S., Lewis, R. A. & Shy, M. E. (2007). Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. Lung, 185(1), 1-7. PMID: 17294338.

Shy, M. E. (2007). Peripheral neuropathies. In D. A. Ausiello , et al (Eds.) Cecil Medicine. (23rd edition), pp. 2802-2817. Philadelphia, PA: Saunders.

Swan, E. R., Fuerst, D. R. & Shy, M. E. (2007). Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A. Neurology, 68(11), 873. PMID: 17353481.

Kamholz, J. A., Brucal, M., Li, J. & Shy, M. (2007). Myelin Protein Zero and CMT1B: A Tale of Two Phenotypes. In S. Waxman (Eds.) Molecular Neurology. pp. 463-474. Elsevier BV. DOI: 10.1016/b978-012369509-3.50031-7.

Züchner, S., De Jonghe, P., Jordanova, A., Claeys, K. G., Guergueltcheva, V., Cherninkova, S., Hamilton, S. R., Van Stavern, G., Krajewski, K. M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C. T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M. & Vance, J. M. (2006). Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of neurology, 59(2), 276-81. PMID: 16437557.

Shy, M. E., Scavina, M. T., Clark, A., Krajewski, K. M., Li, J., Kamholz, J., Kolodny, E., Szigeti, K., Fischer, R. A., Saifi, G. M., Scherer, S. S. & Lupski, J. R. (2006). T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Annals of neurology, 59(2), 358-64. PMID: 16437560.

Shy, M. E. (2006). Peripheral neuropathies caused by mutations in the myelin protein zero. Journal of the neurological sciences, 242(1-2), 55-66. PMID: 16414078.

Shy, M. E. (2006). Therapeutic strategies for the inherited neuropathies. Neuromolecular medicine, 8(1-2), 255-78. PMID: 16775380.

Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X., Kamholz, J., Shy, M. E. & Cambi, F. (2006). Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. Neurology, 67(7), 1141-6. PMID: 17030746.

Verhoeven, K., Claeys, K. G., Züchner, S., Schröder, J. M., Weis, J., Ceuterick, C., Jordanova, A., Nelis, E., De Vriendt, E., Van Hul, M., Seeman, P., Mazanec, R., Saifi, G. M., Szigeti, K., Mancias, P., Butler, I. J., Kochanski, A., Ryniewicz, B., De Bleecker, J., Van den Bergh, P., Verellen, C., Van Coster, R., Goemans, N., Auer-Grumbach, M., Robberecht, W., Milic Rasic, V., Nevo, Y., Tournev, I., Guergueltcheva, V., Roelens, F., Vieregge, P., Vinci, P., Moreno, M. T., Christen, H. J., Shy, M. E., Lupski, J. R., Vance, J. M., De Jonghe, P. & Timmerman, V. (2006). MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain : a journal of neurology, 129(Pt 8), 2093-102. PMID: 16714318.

Bai, Y., Ianokova, E., Pu, Q., Ghandour, K., Levinson, R., Martin, J. J., Ceuterick-de Groote, C., Mazanec, R., Seeman, P., Shy, M. E. & Li, J. (2006). Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Archives of neurology, 63(12), 1787-94. PMID: 17172621.

Stanton, M., Pannoni, V., Lewis, R. A., Logigian, E. L., Naguib, D., Shy, M. E., Cleland, J. & Herrmann, D. N. (2006). Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. Muscle & nerve, 34(4), 417-22. PMID: 16823858.

Li, J., Bai, Y., Ianakova, E., Grandis, M., Uchwat, F., Trostinskaia, A., Krajewski, K. M., Garbern, J., Kupsky, W. J. & Shy, M. E. (2006). Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. The Journal of comparative neurology, 498(2), 252-65. PMID: 16856127.

Grandis, M., Shy, M. E. (2005). Current Therapy for Charcot-Marie-Tooth Disease. Current treatment options in neurology, 7(1), 23-31. PMID: 15610704.

SHY, M. E., LUPSKI, J. R., CHANCE, P. F., KLEIN, C. J. & DYCK, P. J. (2005). Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features. In P. J. Dyck , P. K. Thomas (Eds.) Peripheral Neuropathy. pp. 1623-1658. Elsevier BV. DOI: 10.1016/b978-0-7216-9491-7.50072-7.

SHY, M. E. (2005). Hereditary Motor and Sensory Neuropathies Related to MPZ (P0) Mutations. In P. J. Dyck , P. K. Thomas (Eds.) Peripheral Neuropathy. pp. 1681-1706. Elsevier BV. DOI: 10.1016/b978-0-7216-9491-7.50074-0.

Shy, M. E. (2005). Inherited neuropathies. In H. H. Merritt , L. P. Rowland (Eds.) Merritt's Neurology. (11th), pp. 738-748. Philadelphia, PA: Lippincott Williams & Wilkins.

Saifi, G. M., Szigeti, K., Wiszniewski, W., Shy, M. E., Krajewski, K., Hausmanowa-Petrusewicz, I., Kochanski, A., Reeser, S., Mancias, P., Butler, I. & Lupski, J. R. (2005). SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Human mutation, 25(4), 372-83. PMID: 15776429.

Shy, M. E., Blake, J., Krajewski, K., Fuerst, D. R., Laura, M., Hahn, A. F., Li, J., Lewis, R. A. & Reilly, M. (2005). Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology, 64(7), 1209-14. PMID: 15824348.

Shy, M., Lewis, R. & Li, J. (2005). Inherited Peripheral Neuropathies: Charcot-Marie-Tooth Disease. In M. B. Bromberg , A. G. Smith (Eds.) Handbook of Peripheral Neuropathy. pp. 379–394. CRC Press.

Shy, M. E., Krajewski, K. M. (2005). Genetics OF Neuropathy. CONTINUUM: Lifelong Learning in Neurology, 11, 27-58. DOI: 10.1212/01.con.0000293698.08217.89.

Shy, M. E., Rose, M. R. (2005). Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it?. (Vols. 65). (6), pp. 790-1. Neurology. PMID: 16186514.

Li, J., Bai, Y., Ghandour, K., Qin, P., Grandis, M., Trostinskaia, A., Ianakova, E., Wu, X., Schenone, A., Vallat, J. M., Kupsky, W. J., Hatfield, J. & Shy, M. E. (2005). Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain : a journal of neurology, 128(Pt 5), 1168-77. PMID: 15774502.

Pedrola, L., Espert, A., Wu, X., Claramunt, R., Shy, M. E. & Palau, F. (2005). GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Human molecular genetics, 14(8), 1087-94. PMID: 15772096.

Shy, M. E., Jáni, A., Krajewski, K., Grandis, M., Lewis, R. A., Li, J., Shy, R. R., Balsamo, J., Lilien, J., Garbern, J. Y. & Kamholz, J. (2004). Phenotypic clustering in MPZ mutations. Brain : a journal of neurology, 127(Pt 2), 371-84. PMID: 14711881.

Li, J., Krajewski, K., Lewis, R. A. & Shy, M. E. (2004). Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle & nerve, 29(2), 205-10. PMID: 14755484.

Krajewski, K. M., Shy, M. E. (2004). Genetic testing in neuromuscular disease. Neurologic clinics, 22(3), 481-508, v. PMID: 15207873.

Kamholz, J., Shy, M. E. (2004). Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. (Vols. 63). (1), pp. 194; author reply 194. Neurology. PMID: 15249646.

Shy, M. E. (2004). Charcot-Marie-Tooth disease: an update. Current opinion in neurology, 17(5), 579-85. PMID: 15367862.

Shy, M. E. (2003). Inherited Peripheral Neuropathies. Continuum: Lifelong Learning in Neurology, 9(6), 87-117.

Shy, M. E., Lewis, R. A. (2003). An approach to patients with peripheral neuropathy. Continuum: Lifelong Learning in Neurology, 9(6), 11-18.

Shy, M. E., 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. (2003). Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Annals of neurology, 53(3), 354-65. PMID: 12601703.

Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J. J., Butler, I. J., Mancias, P., Papasozomenos SCh,, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R. & Timmerman, V. (2003). Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain : a journal of neurology, 126(Pt 3), 590-7. PMID: 12566280.

Li, J., Loeb, J. A., Shy, M. E., Shah, A. K., Tselis, A. C., Kupski, W. J. & Lewis, R. A. (2003). Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection. Annals of neurology, 53(6), 703-10. PMID: 12783415.

Shy, M. E., Frohman, E. M., So, Y. T., Arezzo, J. C., Cornblath, D. R., Giuliani, M. J., Kincaid, J. C., Ochoa, J. L., Parry, G. J. & Weimer, L. H. (2003). Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology, 60(6), 898-904. PMID: 12654951.

Lewis, R. A., Li, J., Fuerst, D. R., Shy, M. E. & Krajewski, K. (2003). Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease. Muscle & nerve, 28(2), 161-7. PMID: 12872319.

Lewis, R. A., Sumner, A. & Shy, M. E. (2002). Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. In W. F. Brown , C. F. Bolton & M. J. Aminoff (Eds.) Neuromuscular function and disease : basic, clinical, and electrodiagnostic aspects. Philadelphia, PA: Saunders.

Boerkoel, C. F., Takashima, H., Garcia, C. A., Olney, R. K., Johnson, J., Berry, K., Russo, P., Kennedy, S., Teebi, A. S., Scavina, M., Williams, L. L., Mancias, P., Butler, I. J., Krajewski, K., Shy, M. & Lupski, J. R. (2002). Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of neurology, 51(2), 190-201. PMID: 11835375.

Salles, J., Sargueil, F., Knoll-Gellida, A., Witters, L. A., Shy, M., Jiang, H., Cassagne, C. & Garbay, B. (2002). Fatty acid synthase expression during peripheral nervous system myelination. Brain research. Molecular brain research, 101(1-2), 52-8. PMID: 12007831.

Garbern, J. Y., Yool, D. A., Moore, G. J., Wilds, I. B., Faulk, M. W., Klugmann, M., Nave, K. A., Sistermans, E. A., van der Knaap, M. S., Bird, T. D., Shy, M. E., Kamholz, J. A. & Griffiths, I. R. (2002). Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain : a journal of neurology, 125(Pt 3), 551-61. PMID: 11872612.

Shy, M. E., Garbern, J. Y. & Kamholz, J. (2002). Hereditary motor and sensory neuropathies: a biological perspective. The Lancet. Neurology, 1(2), 110-8. PMID: 12849515.

Paulson, H. L., Garbern, J. Y., Hoban, T. F., Krajewski, K. M., Lewis, R. A., Fischbeck, K. H., Grossman, R. I., Lenkinski, R., Kamholz, J. A. & Shy, M. E. (2002). Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Annals of neurology, 52(4), 429-34. PMID: 12325071.

Li, J., Krajewski, K., Shy, M. E. & Lewis, R. A. (2002). Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology, 58(12), 1769-73. PMID: 12084875.

Acsadi, G., Anguelov, R. A., Yang, H., Toth, G., Thomas, R., Jani, A., Wang, Y., Ianakova, E., Mohammad, S., Lewis, R. A. & Shy, M. E. (2002). Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy. Human gene therapy, 13(9), 1047-59. PMID: 12067438.

Batourina, E., Gim, S., Bello, N., Shy, M., Clagett-Dame, M., Srinivas, S., Costantini, F. & Mendelsohn, C. (2001). Vitamin A controls epithelial/mesenchymal interactions through Ret expression. Nature genetics, 27(1), 74-8. PMID: 11138002.

Shy, M. E. (2001). Inherited neuropathies. In Peripheral neuropathy syllabus. American Academy of Neuropathy course.

Shy, M. E., Lewis, R. A. (2001). Inherited neuropathies in neuromuscular disease. In R. Pourmand (Eds.) Neuromuscular diseases : expert clinicians' views. (105-131) Boston: Butterworth-Heinemann.

Shy, M. E., Balsamo, J., Lilien, J. & Kamholz, J. (2001). A molecular basis for hereditary motor and sensory neuropathy disorders. Current neurology and neuroscience reports, 1(1), 77-88. PMID: 11898503.

Mendell, J. R., Barohn, R. J., Freimer, M. L., Kissel, J. T., King, W., Nagaraja, H. N., Rice, R., Campbell, W. W., Donofrio, P. D., Jackson, C. E., Lewis, R. A., Shy, M., Simpson, D. M., Parry, G. J., Rivner, M. H., Thornton, C. A., Bromberg, M. B., Tandan, R., Harati, Y. & Giuliani, M. J. (2001). Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy. Neurology, 56(4), 445-9. PMID: 11222785.

Menichella, D. M., Arroyo, E. J., Awatramani, R., Xu, T., Baron, P., Vallat, J. M., Balsamo, J., Lilien, J., Scarlato, G., Kamholz, J., Scherer, S. S. & Shy, M. E. (2001). Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells. Molecular and cellular neurosciences, 18(6), 606-18. PMID: 11749037.

Garbern, J., Shy, M., Krajewski, K., Kamholz, J., Hobson, G. & Cambi, F. (2001). Evidence for neuroaxonal injury in patients with proteolipid gene mutations. (Vols. 57). (10), pp. 1938-9. Neurology. PMID: 11723304.

Xu, W., Shy, M., Kamholz, J., Elferink, L., Xu, G., Lilien, J. & Balsamo, J. (2001). Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. The Journal of cell biology, 155(3), 439-46. PMID: 11673479.

Kamholz, J., Menichella, D., Jani, A., Garbern, J., Lewis, R. A., Krajewski, K. M., Lilien, J., Scherer, S. S. & Shy, M. E. (2000). Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain : a journal of neurology, 123 ( Pt 2), 222-33. PMID: 10648431.

Krajewski, K. M., Shy, M. E. (2000). The neurologist and genetic testing in a neuromuscular clinic. Journal of clinical neuromuscular disease, 1(4), 172-4. PMID: 19078582.

Krajewski, K. M., Lewis, R. A., Fuerst, D. R., Turansky, C., Hinderer, S. R., Garbern, J., Kamholz, J. & Shy, M. E. (2000). Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain : a journal of neurology, 123 ( Pt 7), 1516-27. PMID: 10869062.

Lewis, R. A., Sumner, A. J. & Shy, M. E. (2000). Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle & nerve, 23(10), 1472-87. PMID: 11003782.

Xu, W., Manichella, D., Jiang, H., Vallat, J. M., Lilien, J., Baron, P., Scarlato, G., Kamholz, J. & Shy, M. E. (2000). Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. Journal of neuroscience research, 60(6), 714-24. PMID: 10861783.

Jiang, H., Duchala, C. S., Awatramani, R., Shumas, S., Carlock, L., Kamholz, J., Garbern, J., Scherer, S. S., Shy, M. E. & Macklin, W. B. (2000). Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system. Journal of neurobiology, 44(1), 7-19. PMID: 10880128.

Jani, A., Menichella, D., Jiang, H., Chbihi, T., Acsadi, G., Kamholz, J. & Shy, M. E. (1999). Overcoming cellular immunity to prolong adenoviral-mediated gene expression in sciatic nerve. Annals of the New York Academy of Sciences, 883, 397-414. PMID: 10586264.

Lewis, R. A., Shy, M. E. (1999). Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin. Annals of the New York Academy of Sciences, 883, 504-7. PMID: 10586285.

Shy, M. E., Kamholz, J. & Lovelace, R. E. (1999). Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders. Annals of the New York Academy of Sciences, 883, xiii-xviii. PMID: 10586222.

Shy, M. E. (1999). Axonal loss in inherited demyelinating neuropathies: lessions from PMP-22 mice. Neurology Network Commentary, 883, XV-1.

Shy, M. E., Kamholz, J. K., Lovelace, R. E. (Eds.) (1999). Charcot-Marie-Tooth disorders: [result of a conference entitled Third International Conference on Charcot-Marie-Tooth Disorders]. New York, NY: New York Acad. of Sciences.

Jani, A., Menichella, D., Jiang, H., Chbihi, T., Acsadi, G., Shy, M. E. & Kamholz, J. (1999). Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve. Human gene therapy, 10(5), 787-800. PMID: 10210146.

Garbern, J. Y., Cambi, F., Lewis, R., Shy, M., Sima, A., Kraft, G., Vallat, J. M., Bosch, E. P., Hodes, M. E., Dlouhy, S., Raskind, W., Bird, T., Macklin, W. & Kamholz, J. (1999). Peripheral neuropathy caused by proteolipid protein gene mutations. Annals of the New York Academy of Sciences, 883, 351-65. PMID: 10586260.

Cheng, H. L., Shy, M. & Feldman, E. L. (1999). Regulation of insulin-like growth factor-binding protein-5 expression during Schwann cell differentiation. Endocrinology, 140(10), 4478-85. PMID: 10499501.

Pareyson, D., Menichella, D., Botti, S., Sghirlanzoni, A., Fallica, E., Mora, M., Ciano, C., Shy, M. E. & Taroni, F. (1999). Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease. Annals of the New York Academy of Sciences, 883, 477-80. PMID: 10586278.

Garbern, J., Cambi, F., Shy, M. & Kamholz, J. (1999). The molecular pathogenesis of Pelizaeus-Merzbacher disease. Archives of neurology, 56(10), 1210-4. PMID: 10520936.

Menichella, D. M., Xu, W., Jiang, H., Sohi, J., Vallat, J. M., Baron, P., Kamholz, J. & Shy, M. (1999). The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells. Annals of the New York Academy of Sciences, 883, 281-93. PMID: 10586253.

Krajewski, K., Turansky, C., Lewis, R., Garbern, J., Hinderer, S., Kamholz, J. & Shy, M. E. (1999). Correlation between weakness and axonal loss in patients with CMT1A. Annals of the New York Academy of Sciences, 883, 490-2. PMID: 10586281.

Kamholz, J., Awatramani, R., Menichella, D., Jiang, H., Xu, W. & Shy, M. (1999). Regulation of myelin-specific gene expression. Relevance to CMT1. Annals of the New York Academy of Sciences, 883, 91-108. PMID: 10586235.

Dyck, P. J., Dyck, P. J., Kennedy, W. R., Kesserwani, H., Melanson, M., Ochoa, J., Shy, M., Stevens, J. C., Suarez, G. A. & O'Brien, P. C. (1998). Limitations of quantitative sensory testing when patients are biased toward a bad outcome. Neurology, 50(5), 1213. PMID: 9595965.

Garbay, B., Boiron-Sargueil, F., Shy, M., Chbihi, T., Jiang, H., Kamholz, J. & Cassagne, C. (1998). Regulation of oleoyl-CoA synthesis in the peripheral nervous system: demonstration of a link with myelin synthesis. Journal of neurochemistry, 71(4), 1719-26. PMID: 9751207.

Shy, M. E. (1997). Peripheral neuropathy. In R. B. Conn (Eds.) Current Diagnosis 9. (9th edition) Philadelphia, PA: W.B. Saunders.

Garbern, J. Y., Cambi, F., Tang, X. M., Sima, A. A., Vallat, J. M., Bosch, E. P., Lewis, R., Shy, M., Sohi, J., Kraft, G., Chen, K. L., Joshi, I., Leonard, D. G., Johnson, W., Raskind, W., Dlouhy, S. R., Pratt, V., Hodes, M. E., Bird, T. & Kamholz, J. (1997). Proteolipid protein is necessary in peripheral as well as central myelin. Neuron, 19(1), 205-18. PMID: 9247276.

Zaidi, Q., Spehar, B. & Shy, M. (1997). Induced effects of backgrounds and foregrounds in three-dimensional configurations: the role of T-junctions. Perception, 26(4), 395-408. PMID: 9404490.

Shy, M. E., Arroyo, E., Sladky, J., Menichella, D., Jiang, H., Xu, W., Kamholz, J. & Scherer, S. S. (1997). Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). Journal of neuropathology and experimental neurology, 56(7), 811-21. PMID: 9210878.

Bird, S. J., Brown, M. J., Shy, M. E. & Scherer, S. S. (1996). Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma. Neurology, 46(3), 822-4. PMID: 8618691.

Shy, M. E., Shi, Y., Wrabetz, L., Kamholz, J. & Scherer, S. S. (1996). Axon-Schwann cell interactions regulate the expression of c-jun in Schwann cells. Journal of neuroscience research, 43(5), 511-25. PMID: 8833086.

Shy, M. E., Tani, M., Shi, Y. J., Whyatt, S. A., Chbihi, T., Scherer, S. S. & Kamholz, J. (1995). An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve. Annals of neurology, 38(3), 429-36. PMID: 7668829.

Baron, P., Shy, M., Honda, H., Sessa, M., Kamholz, J. & Pleasure, D. (1994). Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and the spinal nerve roots of the rat. Journal of neurocytology, 23(4), 249-57. PMID: 7518505.

Kamholz, J., Shy, M. & Scherer, S. (1994). Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. (Vols. 36). (3), pp. 451-2. Annals of neurology. PMID: 8080259.

Baron, P., Shy, M., Kamholz, J., Scarlato, G. & Pleasure, D. (1994). Expression of P0 protein mRNA along rat sciatic nerve during development. Brain research. Developmental brain research, 83(2), 285-8. PMID: 7535206.

Baron, P., Kamholz, J., Scherer, S., Honda, H., Shy, M., Scarpini, E., Scarlato, G. & Pleasure, D. (1993). Appearance of PLP mRNA in specific regions of the developing rat lumbosacral spinal cord as revealed by in situ hybridization. Experimental neurology, 121(1), 139-47. PMID: 7684334.

Heiman-Patterson, T., Krupa, T., Thompson, P., Nobile-Orazio, E., Tahmoush, A. J. & Shy, M. E. (1993). Anti-GM1/GD1b M-proteins damage human spinal cord neurons co-cultured with muscle. Journal of the neurological sciences, 120(1), 38-45. PMID: 8289078.

Feltri, M. L., Scherer, S. S., Wrabetz, L., Kamholz, J. & Shy, M. E. (1992). Mitogen-expanded Schwann cells retain the capacity to myelinate regenerating axons after transplantation into rat sciatic nerve. Proceedings of the National Academy of Sciences of the United States of America, 89(18), 8827-31. PMID: 1326765.

Kamholz, J., Sessa, M., Scherer, S., Vogelbacker, H., Mokuno, K., Baron, P., Wrabetz, L., Shy, M. & Pleasure, D. (1992). Structure and expression of proteolipid protein in the peripheral nervous system. Journal of neuroscience research, 31(2), 231-44. PMID: 1374129.

Shy, M. E. (1991). Motor neuron diseases. In R. B. Conn (Eds.) Current Diagnosis. (8th edition), pp. 1004-1007. Philadelphia, PA: W.B. Saunders.

Bruce, J., Shy, M. E. (1991). Immunologic diseases. In The pathology of the aging human nervous system. pp. 287–316. Philadelphia, PA, US: Lea & Febiger.

Shy, M. E. (1991). Paraneoplastic syndromes. In R. B. Conn (Eds.) Current Diagnosis. (8th edition), pp. 1011-1013. Philadelphia, PA: W.B. Saunders.

Fishman, P. S., Shy, M. E., Hart, D. E., Thompson, P. E. & Cashman, N. R. (1991). Antibodies to the ganglioside GD1b in a patient with motor neuron disease and thyroid adenoma. Archives of neurology, 48(11), 1188-90. PMID: 1953407.

Shy, M. E. (1990). Immunological aspects of motor neuron disease. Research publications - Association for Research in Nervous and Mental Disease, 68, 241-56. PMID: 2183314.

Shy, M. E. (1990). Autoantibodies and motor neuron disease. In ALS: From Cushing to the present. Amyotrophic Lateral Sclerosis Association.

Shy, M. E. (1990). Immunological aspects of motor neuron disease. In B. H. Waksman (Eds.) Immunologic mechanisms in neurologic and psychiatric disease. pp. 241-256. New York: Raven Press.

Shy, M. E., Heiman-Patterson, T., Parry, G. J., Tahmoush, A., Evans, V. A. & Schick, P. K. (1990). Lower motor neuron disease in a patient with autoantibodies against Gal(beta 1-3)GalNAc in gangliosides GM1 and GD1b: improvement following immunotherapy. Neurology, 40(5), 842-4. PMID: 2330115.

BARON, P., SHY, M., HONDA, H., SESSA, M., CONTI, G., FELTRI, M. L., PLEASURE, D. & KAMHOLZ, J. (1990). Distribution of PLP and P0mRNA during Rat Peripheral Nerve Development. Annals of the New York Academy of Sciences, 605(1 Myelination a), 375-376. DOI: 10.1111/j.1749-6632.1990.tb42417.x.

Heiman-Patterson, T. D., Bird, S. J., Parry, G. J., Varga, J., Shy, M. E., Culligan, N. W., Edelsohn, L., Tatarian, G. T., Heyes, M. P. & Garcia, C. A. (1990). Peripheral neuropathy associated with eosinophilia-myalgia syndrome. Annals of neurology, 28(4), 522-8. PMID: 2174666.

Marcus, D. M., Latov, N., Hsi, B. P. & Gillard, B. K. (1989). Measurement and significance of antibodies against GM1 ganglioside. Report of a workshop, 18 April 1989, Chicago, IL, U.S.A. Journal of neuroimmunology, 25(2-3), 255-9. PMID: 2584398.

Shy, M. E., Evans, V. A., Lublin, F. D., Knobler, R. L., Heiman-Patterson, T., Tahmoush, A. J., Parry, G., Schick, P. & DeRyk, T. G. (1989). Antibodies to GM1 and GD1b in patients with motor neuron disease without plasma cell dyscrasia. Annals of neurology, 25(5), 511-3. PMID: 2505666.

Latov, N., Hays, A. P., Donofrio, P. D., Liao, J., Ito, H., McGinnis, S., Konstadoulakis, M., Freddo, L. & Shy, M. E. (1988). Monoclonal IgM with unique specificity to gangliosides GM1 and GD1b and to lacto-N-tetraose associated with human motor neuron disease. Neurology, 38(5), 763-8. PMID: 2452383.

Zuckerman, S. J., Pesce, M. A., Rowland, L. P., Sherman, W., Shy, M. E., Latov, N. & Osserman, E. F. (1987). An alert for motor neuron diseases and peripheral neuropathy: monoclonal paraproteinemia may be missed by routine electrophoresis. (Vols. 44). (3), pp. 250-1. Archives of neurology. PMID: 3030245.

Shy, M. E., Gabel, C. A., Vietorisz, E. C. & Latov, N. (1986). Characterization of oligosaccharides that bind to human anti-MAG antibodies and to the mouse monoclonal antibody HNK-1. Journal of neuroimmunology, 12(4), 291-8. PMID: 2428831.

Freddo, L., Hays, A. P., Nickerson, K. G., Spatz, L., McGinnis, S., Lieberson, R., Vedeler, C. A., Shy, M. E., Autilio-Gambetti, L. & Grauss, F. C. (1986). Monoclonal anti-DNA IgM kappa in neuropathy binds to myelin and to a conformational epitope formed by phosphatidic acid and gangliosides. Journal of immunology (Baltimore, Md. : 1950), 137(12), 3821-5. PMID: 2431044.

Shy, M. E., Rowland, L. P., Smith, T., Trojaborg, W., Latov, N., Sherman, W., Pesce, M. A., Lovelace, R. E. & Osserman, E. F. (1986). Motor neuron disease and plasma cell dyscrasia. Neurology, 36(11), 1429-36. PMID: 3762961.

Nobile-Orazio, E., Hays, A. P., Latov, N., Perman, G., Golier, J., Shy, M. E. & Freddo, L. (1984). Specificity of mouse and human monoclonal antibodies to myelin-associated glycoprotein. Neurology, 34(10), 1336-42. PMID: 6207463.

Shy, M. E., Vietorisz, T., Nobile-Orazio, E. & Latov, N. (1984). Specificity of human IgM M-proteins that bind to myelin-associated glycoprotein: peptide mapping, deglycosylation, and competitive binding studies. Journal of immunology (Baltimore, Md. : 1950), 133(5), 2509-12. PMID: 6207233.

Cacace, A. T., Shy, M. & Satya-Murti, S. (1980). Brainstem auditory evoked potentials: a comparison of two high-frequency filter settings. Neurology, 30(7 Pt 1), 765-7. PMID: 7190242.