Michael E. Shy, MD

Portrait
Director, Division of Neuromuscular Medicine, Neurology
Specialty: Neuromuscular Disease
Attending Neurologist
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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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., 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.

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.

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.

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.

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.

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.

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.

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.

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

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..

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.

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

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.

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.

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

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.

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.

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

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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., 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.

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.

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.

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.

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.

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., 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.

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.

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., 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.

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.

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

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.

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.

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.

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.

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.

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

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.

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.

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., 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.

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

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

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

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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

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.

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., 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., 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.

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., 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.

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.

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.

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.

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.

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

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

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.

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.

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.

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.

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.

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.

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.

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.

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.