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";s:4:"text";s:25105:"Journal of neurogenetics, 29(1), 4-7. PMID: 22003930. PMID: 10586260. Proteolipid protein is necessary in peripheral as well as central myelin. 18). Genome-Wide Association Study Identifies SIPA1L2 As A Genetic Modifier of Charcot Marie Tooth disease type 1A. Plasticity of adenylyl cyclase-related signaling sequelae after long-term morphine treatment. Inherited Neuropathy Consortium, Biallelic mutations in SORD cause a common and potentially treatable Hereditary Neuropathy. PMID: 3030245. Human gene therapy, 10(5), 787-800. 1681-1706. Neurology, 36(11), 1429-36. (In Press). Swaiman's Pediatric Neurology: Principles and Practice. 1938-9. PMID: 10880128. (2009). & Antonellis, A. Brennan, K. M., Shy, M. E. (2015). Saporta, A. S., Sottile, S. L., Miller, L. J., Feely, S. M., Siskind, C. E. & Shy, M. E. (2011). Wang, H., Davison, M., Wang, K., XIA, T., Kramer, M., Call, K., Luo, J., Wu, X., Zuccarino, R., Bacon, C., Bai, Y., Moran, J., Guttman, L., Feely, S., Grider, T., Rossor, A., Reilly, M., Svaren, J. She has performed on multiple talk shows and arenas across the world leaving the same impression of complete astonishment. In D. A. Ausiello , et al (Eds.) PMID: 6207233. 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. PMID: 16714318. Shy'm (Tamara Marthe) was born in Paris, France in 1985. Her voice is clear, strong and can tackle denser soul songs as it can bubblegum pop. pp. pp. Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Shy, M. E., Garbern, J. Y. & Lovelace, R. E. (1999). (2009). Muscle & nerve. All Rights Reserved PMID: 11723304. Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. In Press. Annals of the New York Academy of Sciences, 883, 490-2. PMID: 18045853. PMID: 9595965. Sheth, S., Francies, K., Siskind, C. E., Feely, S. M., Lewis, R. A. Neurology, 46(3), 822-4. (1), pp. PMID: 25092060. Characterization of oligosaccharides that bind to human anti-MAG antibodies and to the mouse monoclonal antibody HNK-1. Continuum (Minneapolis, Minn.), 17(2 Neurogenetics), 294-315. Shy, M. E., Kamholz, J. K., Lovelace, R. E. & O'Brien, P. C. (1998). American journal of human genetics, 86(3), 343-52. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. Muscle & nerve, 28(2), 161-7. Journal of neurology, 262(9), 2124-34. Lin, C. H., Lin, S. Y., Yang, Y. H., Shih, J. C., Shy, M. K., Lee, C. N. & Yang, Y. S. (2010). PMID: 26362287. Shy, M. E., Lewis, R. A. Paraneoplastic syndromes. Proceedings of the National Academy of Sciences of the United States of America, 113(17), 4552–4554. Biology of peripheral inherited neuropathies: Schwann cell axonal interactions. Ann Clin Transl Neurol 2018;5:445-455. PMID: 12084875. Philadelphia, PA: Lippincott Williams & Wilkins. (2009). 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. Peripheral neuropathies caused by mutations in the myelin protein zero. Journal of neurology, neurosurgery, and psychiatry, 86(6), 635-9. DOI: 10.1212/WNL.0000000000002991. Annals of the New York Academy of Sciences, 883, 477-80. Rebelo, A., Saade, D., Pereira, C. & Shy, M. (2018). Saghira, C., Bis, D., Stanek, D. & Shy, M. (2018). Li, J., Ghandour, K., Radovanovic, D., Shy, R. R., Krajewski, K. M., Shy, M. E. & Nicholson, G. A. & McDermott, M. P. (2008). Estilow, T., Glanzman, A., Burns, J. & Shy, M. (2009). Neurology, 67(7), 1141-6. PMID: 3762961. Jerath, N. U., Kamholz, J., Grider, T., Harper, A., Swenson, A. Shy, M. E., Shi, Y., Wrabetz, L., Kamholz, J. PMID: 19359449. Annals of neurology, 25(5), 511-3. Journal of the peripheral nervous system : JPNS, 19(3), 192-6. PMID: 12601703. | (2014). & Shy, M. E. (2000). Muscle & nerve, 49(4), 478-82. Iowa City, IA 52242, Copyright © 2020 The University of Iowa. Diagnosis and new treatments in genetic neuropathies. Hide Map. (23rd edition), pp. (2001). Neurology, 78(22), 1714-20. Perception, 26(4), 395-408. Archives of neurology, 48(11), 1188-90. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Kamholz, J., Sessa, M., Scherer, S., Vogelbacker, H., Mokuno, K., Baron, P., Wrabetz, L., Shy, M. & Pleasure, D. (1992). Neuromuscular disorders : NMD, 24(11), 1018-23. A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. In M. B. Bromberg , A. G. Smith (Eds.) & Shy, M. E. (2002). 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. Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Despite her fluctuations in musical form one constant is that she is an audacious pop star who has succeeded in making fashionable and commercially appeasing songs for the masses. PMID: 11872612. An approach to patients with peripheral neuropathy. PMID: 12783415. Current bladder dysfunction reports, 8(1), 45-50. Shy, M. E. (1991). PMID: 18337304. (2008). Eichinger K, Burns J, Cornett K, et al (Shy ME penultimate author). 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). (2004). DOI: 10.1111/j.1749-6632.1990.tb42417.x. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 10(4 Pt 2), 544-51. Annals of neurology, 59(2), 276-81. Almodovar, J. L., Ferguson, M., McDermott, M. P., Lewis, R. A., Shy, M. E. & Herrmann, D. N. (2011). Regulation of oleoyl-CoA synthesis in the peripheral nervous system: demonstration of a link with myelin synthesis. Brain : a journal of neurology, 127(Pt 2), 371-84. Therapeutic strategies for the inherited neuropathies. PMID: 16414078. 126-157. 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. Katona, I., Wu, X., Feely, S. M., Sottile, S., Siskind, C. E., Miller, L. J., Shy, M. E. & Li, J. Neurologic clinics, 31(2), 597-619. PMID: 15249646. Chronic inflammatory demyelinating polyneuropathy associated with malignant melanoma. Update on Charcot-Marie-Tooth disease. Inherited Peripheral Neuropathies: Charcot-Marie-Tooth Disease. Functional Magnetic Resonance Imaging with Concurrent Urodynamic Testing Identifies Brain Structures Involved in Micturition Cycle in Patients with Multiple Sclerosis. Office2157 RCPIowa City, IA 52242319-384-6362. 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. Limitations of quantitative sensory testing when patients are biased toward a bad outcome. Mutations in Schwann cell genes causing inherited neuropathies. Neurology, 38(5), 763-8. MUNE and progression of CMT1A. Journal of neurology, neurosurgery, and psychiatry. (2009). 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. Phenotypic presentation of the Ser63Del MPZ mutation. Schizophrenia research, 116(1), 68-74. Rossor, A., Shy, M., Reilly, M. Inherited peripheral neuropathies. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B. Katona, I., Zhang, X., Bai, Y., Shy, M. E., Guo, J., Yan, Q., Hatfield, J., Kupsky, W. J. Strategy for genetic testing in Charcot-Marie-disease. (2005). & Shy, M. E. (2013). PMID: 15824348. Journal of neurology, neurosurgery, and psychiatry. The Journal of cell biology, 155(3), 439-46. More than a year ago. Saunders. Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and the spinal nerve roots of the rat. Neurology, 30(7 Pt 1), 765-7. PMID: 18559457. Incidence and clinical features of TRPV4-linked axonal neuropathies in a USA cohort of Charcot-Marie-Tooth disease type 2. & Shy, M. E. (1992). Journal of neurology, neurosurgery, and psychiatry. Human Mutation 2018;39:415-432. pp. Detection of copy number variation by SNP-allelotyping. Ramchandren, S., Shy, M., Feldman, E., Carlos, R. & Siskind, C. (2015). PMID: 23742762. DOI: 10.1080/14992027.2019.1633022. Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders. Elsevier BV. Ramchandren, S., Jaiswal, M., Feldman, E. & Shy, M. (2014). Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. DOI: 10.1016/b978-012369509-3.50031-7. 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Roy J. and Lucille A. PMID: 23439804. & Lu, R. B. Jani, A., Menichella, D., Jiang, H., Chbihi, T., Acsadi, G., Shy, M. E. & Kamholz, J. PMID: 16856127. Annals of neurology, 69(1), 22-33. Hu, B., McCollum, M. & Shy, M. (2018). Garbern, J., Shy, M., Krajewski, K., Kamholz, J., Hobson, G. & Cambi, F. (2001). Join 22,273 fans getting concert alerts for this artist. Phenotypic variability of childhood Charcot-Marie-Tooth disease. Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. (1990). Nature, 448(7149), 68-72. & Shy, M. E. (2000). Charcot-Marie-Tooth disorders: [result of a conference entitled Third International Conference on Charcot-Marie-Tooth Disorders]. She is not afraid to build an image for her self and subvert it. Padua, L., Shy, M. E., Aprile, I., Cavallaro, T., Pareyson, D., Quattrone, A., Rizzuto, N., Vita, G., Tonali, P. & Schenone, A. & Shy, M. (2019). Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. Current opinion in neurology, 17(5), 579-85. PMID: 21508331. Molecular and cellular neurosciences, 18(6), 606-18. Bai, Y., Zhang, X., Katona, I., Saporta, M. A., Shy, M. E., O'Malley, H. A., Isom, L. L., Suter, U. Experimental neurology, 263, 190-9. PMID: 23456782. American Journal of Human Genetics. Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. The relationship between anogenital distance and the efficacy of varicocele repair. (Sixth edition) Elsevier. (Vols. Philadelphia, PA: Wolters Kluwer. PMID: 25599912. PMID: 17701900. 379–394. 1656-7. Lower motor neuron disease in a patient with autoantibodies against Gal(beta 1-3)GalNAc in gangliosides GM1 and GD1b: improvement following immunotherapy. Patzkó, A., Shy, M. E. (2011). (2012). (4), pp. Shy, M. E., Krajewski, K. M. (2005). PMID: 20850975. Annals of the New York Academy of Sciences, 605(1 Myelination a), 375-376. Structure and expression of proteolipid protein in the peripheral nervous system. (Vols. Swan, E. R., Fuerst, D. R. & Shy, M. E. (2007). Clinical biomechanics (Bristol, Avon), 27(7), 744-7. & Shy, M. E. (2000). PMID: 20071523. PMID: 19949810. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Huang, J., Wu, X., Montenegro, G., Price, J., Wang, G., Vance, J. M., Shy, M. E. & Züchner, S. (2010). 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). Shy, M. E. (2005). (1995). Sanmaneechai, O., Swenson, A., Gerke, A. K., Moore, S. A. PMID: 22522479. Shy, M. E. (2003). PMID: 17502419. (2018). 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). Shy, M. E. (2007). Neurology, 72(3), 246-52. PMID: 10586264. Marcus, D. M., Latov, N., Hsi, B. P. & Gillard, B. K. (1989). PMID: 19917815. Batourina, E., Gim, S., Bello, N., Shy, M., Clagett-Dame, M., Srinivas, S., Costantini, F. & Mendelsohn, C. (2001). 362. In P. J. Dyck , P. K. Thomas (Eds.) PMID: 9751207. Inherited Peripheral Neuropathies: Charcot-Marie-Tooth Disease. Lung, 185(1), 1-7.
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, [url=https://www.setlist.fm/setlist/shym/2019/zenith-arena-lille-france-5391077d.html][img]https://www.setlist.fm/widgets/setlist-image-v1?id=5391077d[/img][/url] Shy, M. E. (2009). Research publications - Association for Research in Nervous and Mental Disease, 68, 241-56. Genetic testing practices for Charcot-Marie-Tooth type 1A disease. Neurology 2018;91:e13. PMID: 17353473. PMID: 2330115. Chang, H. A., Lu, R. B., Shy, M. J., Chang, C. C., Lee, M. S. & Huang, S. Y. Anti-GM1/GD1b M-proteins damage human spinal cord neurons co-cultured with muscle. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. PMID: 21254193. (Vols. Axonal Charcot-Marie-Tooth disease. 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. Muscle & nerve. PMID: 23801417. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. American Academy of Neuropathy course. PMID: 18437281. (8th edition), pp. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Monoclonal anti-DNA IgM kappa in neuropathy binds to myelin and to a conformational epitope formed by phosphatidic acid and gangliosides. 1623-1658. Svaren, J., Moran, J., Wu, X., Zuccarino, R., Bacon, C., Bai, Y., Ramesh, R., Gutmann, L., Anderson, D., Pavelec, D. & Shy, M. (2019). Genetics of neuropathies. 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. Pareyson, D., Menichella, D., Botti, S., Sghirlanzoni, A., Fallica, E., Mora, M., Ciano, C., Shy, M. E. & Taroni, F. (1999). PMID: 22003934. In H. H. Merritt , L. P. Rowland (Eds.) PMID: 11898503. 880-1; author reply 881. PMID: 12325071. 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). (2010). Shy, M. E. (1990). PMID: 7668829. Merritt's Neurology. 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). Brain : a journal of neurology, 129(Pt 8), 2093-102. Krajewski, K. M., Shy, M. E. (2000). Cheng, H. L., Shy, M. & Feldman, E. L. (1999). Advances in experimental medicine and biology, 652, 201-6. Updated: 27 May 2019, 8:03; ... She was ultimately discovered by Lebanese-Canadian rapper K.Maro and adopted the stage name Shy'm. Hosted by ConcertFrance. (3), pp. & Griffiths, I. R. (2002). PMID: 21410794. Journal of neuroimmunology, 12(4), 291-8. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. In M. J. Zigmond , J. T. Coyle , L. P. Rowland (Eds.) PMID: 10586222. PMID: 12566280. 197-8. Annals of the New York Academy of Sciences, 883, 281-93. Functional magnetic resonance imaging during urodynamic testing identifies brain structures initiating micturition. (2002). The neurologist and genetic testing in a neuromuscular clinic. (2001). Antibodies to the ganglioside GD1b in a patient with motor neuron disease and thyroid adenoma. Specificity of mouse and human monoclonal antibodies to myelin-associated glycoprotein. PMID: 25540311. Muscle & nerve, 23(10), 1472-87. PMID: 25400013. & Scherer, S. S. (1997). pp. Shy, M. E., Vietorisz, T., Nobile-Orazio, E. & Latov, N. (1984). PMID: 21280073. Shy, M. E., Jáni, A., Krajewski, K., Grandis, M., Lewis, R. A., Li, J., Shy, R. R., Balsamo, J., Lilien, J., Garbern, J. Y. Aboussouan, L. S., Lewis, R. A. Philadelphia, PA: Saunders. Jerath, N., Mankodi, A., Crawford, T. & Shy, M. (2018). PMID: 25085517. Distribution of PLP and P0mRNA during Rat Peripheral Nerve Development. PMID: 7684334. Goldman's Cecil Medicine. Journal of neurology, neurosurgery, and psychiatry. Muscle & nerve. [url=https://www.setlist.fm/edit?setlist=5391077d&step=song]Edit this setlist[/url] | [url=https://www.setlist.fm/setlists/shym-2bd6208e.html]More Shy’m setlists[/url], Grand Place Saint Amand, Saint-Amand-les-Eaux. PMID: 19427270. European archives of psychiatry and clinical neuroscience, 258(6), 350-6. Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features. Zaidi, Q., Spehar, B. Panosyan, F., Mountain, J., Reilly, M., Shy, M. & Herrmann, D. (2016). 194; author reply 194. 816-822. DOI: 10.1016/b978-1-4377-1604-7.00428-0. 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). & Lin, W. W. (2008). Abbott, J., Meyer-Schuman, R., Lupo, V. & Shy, M. (2018). Conduction block in PMP22 deficiency. pp. The Journal of cell biology, 177(4), 707-16. Shy, M. E., Blake, J., Krajewski, K., Fuerst, D. R., Laura, M., Hahn, A. F., Li, J., Lewis, R. A. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 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. Nobile-Orazio, E., Léger, J. M., Lewis, R. A., Bolino, A., Shy, M. E. & Cornblath, D. R. (2013). Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system. Philadelphia, PA: Lippincott Williams & Wilkins. Brain : a journal of neurology, 135(Pt 12), 3551-66. Motor neuron diseases. Hereditary motor and sensory neuropathies: a biological perspective. In P. J. Armati (Eds.) (3), pp. Effect of pain in pediatric inherited neuropathies. Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells. (1999). Shy, M. (2009). PMID: 2584398. Zénith Sud. PMID: 14711881. PMID: 25448007. Annals of the New York Academy of Sciences, 883, 397-414. Kamholz, J., Menichella, D., Jani, A., Garbern, J., Lewis, R. A., Krajewski, K. M., Lilien, J., Scherer, S. S. & Shy, M. E. (2000). : 1950), 137(12), 3821-5. Heiman-Patterson, T., Krupa, T., Thompson, P., Nobile-Orazio, E., Tahmoush, A. J. Inherited Peripheral Neuropathies. Development and validation of the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Shy, M. E. (1991). Objective Evaluation of Overactive Bladder: Which Surveys Should I Use?. Elsevier BV. & Li, J. & Shy, M. (1999). PMID: 22106713. Neurology, 56(4), 445-9. PMID: 22734905. Brain : a journal of neurology, 128(Pt 5), 1168-77. Baron, P., Shy, M., Kamholz, J., Scarlato, G. & Pleasure, D. (1994). Saunders. Shy, M. E. (1990). Monoclonal IgM with unique specificity to gangliosides GM1 and GD1b and to lacto-N-tetraose associated with human motor neuron disease. Li, J., Bai, Y., Ianakova, E., Grandis, M., Uchwat, F., Trostinskaia, A., Krajewski, K. M., Garbern, J., Kupsky, W. J. The name comes from … Use this setlist for your event review and get all updates automatically! & Pleasure, D. (1994). PMID: 2183314. & Weimer, L. H. (2003). Unfortunately there are no concert dates for Shy'm scheduled in 2020. Shy, M. E. (2004). Elsevier BV. PMID: 21692908. Klein, C. J., Duan, X. & Shy, M. E. (2015). Salles, J., Sargueil, F., Knoll-Gellida, A., Witters, L. A., Shy, M., Jiang, H., Cassagne, C. & Garbay, B. & Shy, M. E. (2002). Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Hereditary Neuropathies in Late Childhood and Adolescence. PMID: 22689911. PMID: 7518505. The European journal of neuroscience, 33(8), 1401-10. 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). Gutmann, L., Shy, M. (2015). 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). PMID: 21892080. PMID: 25430934. Patzko, A., Shy, M. E. (2012). Eisenberg, M. L., Shy, M., Walters, R. C. & Lipshultz, L. I. PMID: 21080241. & Shy, M. (2007). DOI: 10.1016/b978-0-12-417044-5.00017-2. Shy, M. E., Kamholz, J. PMID: 19193385. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. & Shy, M. E. (2012). Li, J., Krajewski, K., Lewis, R. A. & Giuliani, M. J. (Vols. (2006). PMID: 22459677. PMID: 8289078. Handbook of Peripheral Neuropathy. PMID: 2505666. Correlation between weakness and axonal loss in patients with CMT1A. Persistent CNS dysfunction in a boy with CMT1X. Journal of the neurological sciences, 279(1-2), 109-13. Dyck, P. J., Dyck, P. J., Kennedy, W. R., Kesserwani, H., Melanson, M., Ochoa, J., Shy, M., Stevens, J. C., Suarez, G. A. Annals of the New York Academy of Sciences, 883, 91-108. Shy, M. E. (2001). (2016). Siskind, C. E., Shy, M. E. (2011). Are we prepared for clinical trials in Charcot-Marie-Tooth Disease, Brain Research. Cell reports, 12(7), 1169-83. Shy, M. E. (2006). Journal of the peripheral nervous system : JPNS, 17(2), 197-200. Brain : a journal of neurology, 125(Pt 3), 551-61. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Advances in experimental medicine and biology, 652, 171-81. CMT1X phenotypes represent loss of GJB1 gene function. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. DOI: 10.1517/21678707.2015.1009037. Extremely preterm cesarean delivery "en caul". 8). (2015). (105-131) Boston: Butterworth-Heinemann. Shy, M. E. (2011). Shy, M. E., Heiman-Patterson, T., Parry, G. J., Tahmoush, A., Evans, V. A. International journal of andrology, 35(5), 726-30. Shy, M. E. (2006). Annals of neurology, 28(4), 522-8. A., Brucal, M., Li, J. Nicholson, G., Kennerson, M., Brewer, M., Garbern, J. Find information on all of Shy'm’s upcoming concerts, tour dates and ticket information for 2020-2021. In Revision, Nature Genetics. Charcot-Marie-Tooth neuropathies: diagnosis and management. Neurology. (Vols. & Krischer, J. Tao, F., Beecham, G., Rebelo, A., Blanton, S., Moran, J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C., Wu, X., Feely, S., Verhamme, C., Herrmann, D., Day, J., Sumner, C., Lloyd, T., Li, J., Yum, S., Baas, F., Choi, B., Pareyson, D., Scherer, S., Reilly, M., Shy, M. & Zuchner, S. (2019). 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. & Shy, M. E. (2015). 36). Journal of neurobiology, 44(1), 7-19. 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). Edit Release All Versions of this Release New Submission . PMID: 10210146. Motor neuron disease and plasma cell dyscrasia. Immunological aspects of motor neuron disease. 451-2. (1999). Saporta, M. A., Shy, M. E. (2013). SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. The absence of myelin P0 protein produces a novel molecular phenotype in Schwann cells. The Lancet. Feifei, T., Beecham, G., Rebelo, A., Blanton, S., Moran, J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C., Wu, X., Feely, S., Verhamme, C., Hermann, D., Day, J., Sumner, C., Lloyd, T., Li, J., Yum, S., Bass, F., Choi, B., Pareyson, D., Scherer, S., Reilly, M., Shy, M. & Zuchner, S. (In Press). 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