Steven S. Scherer, MD, PhD

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: 2020,e884-e896

Motley, W.W., S. Züchner, and S.S. Scherer Isoform-specific loss of Dystonin causes hereditary motor and sensory neuropathy. , Neurol. Genet. , 6: 2020,e496

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, : 2020,345-375

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: 2020,e52986

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: 2020,473-481

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: 2020,104845

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: 2019,55-67

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: 2019,214-218

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: 2019,e322

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: 2019,134-137