Stephan L Zuchner


  • 11061 Citations

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

    A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

    Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN), Mar 3 2020, In : Neurology. 94, 9, p. e884-e896

    Research output: Contribution to journalComment/debate

  • Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    Inherited Neuropathy Consortium, May 1 2020, In : Nature genetics. 52, 5, p. 473-481 9 p.

    Research output: Contribution to journalArticle

  • Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

    Cortese, A., Tozza, S., Yau, W. Y., Rossi, S., Beecroft, S. J., Jaunmuktane, Z., Dyer, Z., Ravenscroft, G., Lamont, P. J., Mossman, S., Chancellor, A., Maisonobe, T., Pereon, Y., Cauquil, C., Colnaghi, S., Mallucci, G., Curro, R., Tomaselli, P. J., Thomas-Black, G., Sullivan, R. & 22 others, Efthymiou, S., Rossor, A. M., Laurá, M., Pipis, M., Horga, A., Polke, J., Kaski, D., Horvath, R., Chinnery, P. F., Marques, W., Tassorelli, C., Devigili, G., Leonardis, L., Wood, N. W., Bronstein, A., Giunti, P., Züchner, S., Stojkovic, T., Laing, N., Roxburgh, R. H., Houlden, H. & Reilly, M. M., Jan 1 2020, In : Brain. 143, 2, p. 489-490 2 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations

    Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man

    Harada, Y., Zuchner, S. L., Herrmann, D. N. & Veerapandiyan, A., Mar 3 2020, In : Neurology. 94, 9, p. 405-409 5 p.

    Research output: Contribution to journalArticle

    Open Access