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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
Penn Medicine University City
3737 Market Street
Philadelphia, PA 19104
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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.
Scherer, S.S., K.A. Kleopa, and M.D. Benson: Peripheral Neuropathies. In: Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 6th edition, : 345-375,2020.
Li J.J., N. Sarute, E. Lancaster, G. Otkiran-Clare, B.M. Fagla, S.R. Ross, and S.S. Scherer: A recessive Trim2 mutation causes an axonal neuropathy in mice. Neurobiol. Dis. 140 : 104845,2020.
163., Fridman, V., S. Sillau, G. Acsadi, C. Bacon, K. Dooley, J. Burns, J. Day, S. Feely, R.S. Finkel, T. Grider, L. Gutmann, D.N. Herrmann, C.A. Kirk, S.A. Knause, M. Laura, R.A. Lewis, J. Li, T.E. Lloyd, I. Moroni, F. Muntoni, E. Pagliano, C. Pisciotta, G. Piscosquito, S. Ramchandren, M. Saporta, R. Sadjadi, R.R. Shy, C.E. Siskind, C.J. Sumner, D. Walk, J. Wilcox, S.W. Yum, S. Züchner, S.S. Scherer, D. Pareyson, M.M. Reilly, M.E Shy: A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 94 : e884-e896,2020.
Motley, W.W., S. Züchner, and S.S. Scherer: Isoform-specific loss of Dystonin causes hereditary motor and sensory neuropathy. Neurol. Genet. 6 : e496,2020.
Sase S., A.A. Almad, C.A. Boecker, P. Guedes-Dias, J.J. Li, A. Takanohashi, A. Patel, T. McCaffrey, H. Patel, D. Sirdeshpande, J. Curiel, J.S.-H. Liu, Q. Padiath, E.L.F. Holzbaur, S.S. Scherer, A. Vanderver: TUBB4A mutations results in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. eLife 9 : e52986,2020.
Cortese A., Y. Zhu, A.P. Rebelo, S. Negri, S. Courel, L. Abreu, C.J. Bacon, Y. Bai, D.M. Bis-Brewer, E. Bugiardini, E. Buglo, M.C. Danzi, S.M.E. Feely, A. Athanasiou-Fragkouli, N.A. Haridy, Inherited Neuropathy Consortium, R. Isasi, A. Khan, M. Laura, S. Magri, M. Pipis, C. Pisciotta, E. Powell, A.M. Rossor, P. Saveri, J.E. Sowden, S. Tozza, J. Vandrovcova, J. Dallman, E. Grignani, E. Marchioni, S.S. Scherer, B. Tang, Z. Lin, A. Al-Ajmi, R. Schule, M. Synofzik, T. Maisonobe, T. Stojkovic, M. Auer-Grumbach, M.A. Abdelhamed, S.A. Hamed, R. Zhang, F. Manganelli, L. Santoro, F. Taroni, D. Pareyson, H. Houlden, D.N. Herrmann, M.M. Reilly, M.E. Shy, R.G. Zhai, S. Züchner: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 52 : 473-481,2020.
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., 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.
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