Stephan L Zuchner


  • 10591 Citations
1998 …2024

Research output per year

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  • Inherited Neurophathies Consortium (RDCRC)

    Zuchner, S. L., Scherer, S. S., Muntoni, F. & Shy, M.

    National Institutes of Health


    Project: Research project

  • Research Output

    Genetic modifiers and non-Mendelian aspects of CMT

    Bis-Brewer, D. M., Fazal, S. & Züchner, S., Jan 1 2020, In : Brain Research. 1726, 146459.

    Research output: Contribution to journalReview article

  • A network biology approach to unraveling inherited axonopathies

    Bis-Brewer, D. M., Danzi, M. C., Wuchty, S. & Zuchner, S. L., Dec 1 2019, In : Scientific reports. 9, 1, 1692.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

    Dankwa, L., Richardson, J., Motley, W. W., Scavina, M., Courel, S., Bardakjian, T., Zuchner, S. L. & Scherer, S. S., Jan 1 2019, (Accepted/In press) In : Neuromuscular Disorders.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4)

    Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., Tomaselli, P. J., Devigili, G., Callegari, I., Versino, M., Salpietro, V., Efthymiou, S., Kaski, D., Wood, N. W. & 10 others, Andrade, N. S., Buglo, E., Rebelo, A., Rossor, A. M., Bronstein, A., Fratta, P., Marques, W. J., Zuchner, S. L., Reilly, M. M. & Houlden, H., May 1 2019, In : Nature genetics. 51, 5, 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
  • 1 Scopus citations

    Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

    Horga, A., Bugiardini, E., Manole, A., Bremner, F., Jaunmuktane, Z., Dankwa, L., Rebelo, A. P., Woodward, C. E., Hargreaves, I. P., Cortese, A., Pittman, A. M., Brandner, S., Polke, J. M., Pitceathly, R. D. S., Zuchner, S. L., Hanna, M. G., Scherer, S. S., Houlden, H. & Reilly, M. M., Apr 1 2019, In : Neurology: Genetics. 5, 2, e322.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations