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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

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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