Description of Research Expertise:
My main interest is the pathogenesis of demyelinating diseases, particularly those caused by mutations in the genes that encode the gap junction proteins Cx32 and Cx47. My current projects in my scientific laboratory relate to (1) the role of Cx32 in the pathogenesis of inherited demyelinating neuropathy, (2) how gap junctions between astrocytes and oligodendrocytes affect the structure/function of CNS myelin, (3) how the myelin sheath organizes the structure of the axon, and (4) animal models of inherited neuropathies. In the clinic, I also participate in a large effort in finding new genetic causes of inherited neuropathies.
Panosyan, F.B., M. Laura, A.M. Rossor, C. Pisciotta, G. Piscosquito, J. Burns, J. Li, S. Yum, R.A. Lewis, J.W. Day, R. Horvath, D.N. Herrmann, M.E. Shy, D. Pareyson, M.M. Reilly: Cross-sectional analysis of a large cohort of patients with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology (in press) : 2017.
Fehmi, J., S.S. Scherer, H.J. Willison: Nodes, paranodes, and neuropathy. J. Neurol. Neurosurg. Psychiat. (in press) : 2017.
E. Burnor, E., L. Yang, H. Zhou, K.R. Patterson, C. Quinn, M.M. Reilly, A.M. Rossor, S.S. Scherer: Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies. Neurology (in press) : 2017.
Abrams, C. K., M. Goman, S. Wong, S.S. Scherer, K.A. Kleopa, A. Peinado: Loss of coupling distinguishes GJB1 mutations associated with CNS manifestations of CMT1X from those without CNS manifestations. Sci. Rep. 7 : 40166,2017.
Rossor, A.M., A.S. Carr, H. Devine, A.L. Pelayo-Negro, D. Pareyson, M.E. Shy, S.S. Scherer: Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. J. Neurol. Neurosurg. Psychiat. (in press) : 2017.
Laura, M., D. Singh, G. Ramdharry, J. Morrow, M. Skorupinska, D. Pareyson, J. Burns, R.A. Lewis, S.S. Scherer, D.N. Herrmann, N. Cullen, C. Bradish, L. Gaiani, N. Martinelli, P. Gibbons, G. Pfeffer, P. Phisitkul, K. Wapner, J. Sanders, S. Flemister, M.E. Shy, M.M. Reilly: Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve (in press) : 2017.
Zhao, H. T., S. Damle, K. Ikeda-Lee, S. Kuntz, J. Li, A. Mohan, A. Kim, G. Hung, M.A. Scheideler, S.S. Scherer, J. Svaren, E. E. Swayze: PMP22 antisense oligonucleotides reverse clinical, pathological, and molecular features of Charcot-Marie-Tooth disease type 1A. J. Clin. Invest. (in press) : 2017.
Thomas, F.P., V. Guergueltcheva, F.A.A. Gondim, I. Tournev, C.V. Rao, B. Ishpekova, L.J. Kinsella, Y. Pan, T.J. Geller, I. Litvinenko, P. Jonghe, S.S. Scherer: Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. J. Neurol. 263 : 467-476,2016.
Kagiava, A., I. Sargiannidou, G. Theophilidis, C. Karaiskos, J. Richter, A. Bashiardes, N. Schiza, M. Nearchou, C. Christodoulou, S.S. Scherer: Intrathecal gene delivery rescues a model of demyelinating peripheral neuropathy. Proc. Natl. Acad. Sci. USA 113 : E2421-2429,2016.
Motley, W.W., P. Palaima, S.W. Yum, M.A. Gonzalez, F. Tao, J.V. Wanschitz, A.V. Strickland, W.N. Löscher, E. De Vriendt, S. Koppi, L. Medne, A. Janecke, A. Jordanova, S. Züchner: De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain 139 : 1649-1656,2016.
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