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Adults (18-65), Geriatrics (65+)
Adults (18-65), Geriatrics (65+)
Recognized by Best Doctors in America 2007 - 2018
Penn Neuroscience Center, Perelman Center for Advanced Medicine
South Pavilion, 2nd Floor
3400 Civic Center Boulevard
Philadelphia, PA 19104
A facility of the Hospital of the University of Pennsylvania
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RESEARCH INTERESTSMy 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.
Dankwa, L., Richardson, J., Motley, W.W., Scavina, M., Bardakjian, T., Züchner, S., Scherer, S.S.: A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromusc Dis 29 : 134-137,2019.
Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W., Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E., Zuchner, S., Inherited Neuropathy Consortium: Modifier gene candidates in Charcot-Marie-Tooth Disease type 1A: a case-only genome-wide association study. J. Neuromuscul. Dis. 6 : 201-211,2019.
Bardakjian, T., Scherer, S.S.: MT-ATP6 mutation causes a slowly progressive myeloneuropathy. J. Neuromuscul. Disord. 6 : 385-387,2019.
Lee, D. C., Dankwa, L., Edmundson, C., Cornblath, D. R., Scherer, S. S.: Yield of next-generation neuropathy gene panels in axonal neuropathies. J. Peripher. Nerv. Syst. 24 : 324-329,2019.
Lee, D. C., Meyer-Schuman, R., Bacon, C., Shy, M. E., Antonellis, A., Scherer, S. S.: A recurrent GARS mutation causes distal hereditary motor neuropathy. J. Peripher. Nerv. Syst. 24 : 320-323,2019.
Pareyson D., T. Stojkovic, M.M. Reilly, S. Leonard-Louis, M. Laura, J. Blake, Y. Parman, E. Battaloglu, M. Tazir, M. Bellatache, N. Bonello-Palot, M. Levy, S. Sacconi, R. Guimaraes-Costa, S. Attarian, P. Latour, G. Sole, A. Megarbane, R. Horvath, G. Ricci, B.O. Choi, A. Schenone, C. Gemelli, A. Geroldi, M. Sabatelli, M. Luigetti, L. Santoro, R. Manganelli, A. Quattrone, P. Valentino, T. Murakami, S.S. Scherer, L. Dankwa, M.E. Shy, C.J. Bacon, D.N. Herrmann, A. Zambon, I. Tramacere, C. Pisciotta, S. Magri, S.C. Previtali, A. Bolino: A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 86 : 55-67,2019.
Tao, F., Beecham, G. W., Rebelo, A. P., Svaren, J., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Morrow, J. M., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., Saporta, M. A., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W., Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E., Zuchner, S., Inherited Neuropathy, Consortium: Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A Ann Neurol 85 (3): 316-330,2019.
Phillips, J., Courel, S., Bis-Brewer, D., Rebelo, A., Bardakjian, T., Dankwa, L., Hamedani, A., Züchner, S., Scherer, S.: POLG mutations presenting as CMT. J. Periph. Nerv. Syst. 24 : 214-218,2019.
A. Horga, E. Bugiardini, A. Manole, F. Bremner, Z. Jaunmuktane, L. Dankwa, A.P. Rebelo, C.E. Woodward, I.P. Hargreaves, A. Cortese, A.M. Pittman, S. Brandner, J.M. Polke, R.D.S. Pitceathly, S. Züchner, M.G. Hanna, S.S. Scherer, H. Houlden, M.M. Reilly: Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy. Neurol. Genet. 5 : e322,2019.
Dankwa, L., Richardson, J., Motley, W.W., Züchner, S., Scherer, S.S.: A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family J. Periph. Nerv. Syst. 23 : 36-39,2018.
165 Johnson Pavilion
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