Charlotte Sumner



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Research Output

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

Sullivan, J. M., Motley, W. W., Johnson, J. O., Aisenberg, W. H., Marshall, K. L., Barwick, K. E. S., Kong, L., Huh, J. S., Saavedra-Rivera, P. C., McEntagart, M. M., Marion, M. H., Hicklin, L. A., Modarres, H., Baple, E. L., Farah, M. H., Zuberi, A. R., Lutz, C. M., Gaudet, R., Traynor, B. J., Crosby, A. H. & 1 others, Sumner, C. J., Mar 2 2020, In : Journal of Clinical Investigation. 130, 3, p. 1506-1512 7 p.

Research output: Contribution to journalArticle

Open Access
  • TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+

    Woolums, B. M., McCray, B. A., Sung, H., Tabuchi, M., Sullivan, J. M., Ruppell, K. T., Yang, Y., Mamah, C., Aisenberg, W. H., Saavedra-Rivera, P. C., Larin, B. S., Lau, A. R., Robinson, D. N., Xiang, Y., Wu, M. N., Sumner, C. J. & Lloyd, T. E., Dec 1 2020, In : Nature communications. 11, 1, 2679.

    Research output: Contribution to journalArticle

    Open Access
  • Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

    Ramos, D. M., d’Ydewalle, C., Gabbeta, V., Dakka, A., Klein, S. K., Norris, D. A., Matson, J., Taylor, S. J., Zaworski, P. G., Prior, T. W., Snyder, P. J., Valdivia, D., Hatem, C. L., Waters, I., Gupte, N., Swoboda, K. J., Rigo, F., Frank Bennett, C., Naryshkin, N., Paushkin, S. & 2 others, Crawford, T. O. & Sumner, C. J., Nov 1 2019, In : Journal of Clinical Investigation. 129, 11, p. 4817-4831 15 p.

    Research output: Contribution to journalArticle

  • Dominant collagen XII mutations cause a distal myopathy

    Mohassel, P., Liewluck, T., Hu, Y., Ezzo, D., Ogata, T., Saade, D., Neuhaus, S., Bolduc, V., Zou, Y., Donkervoort, S., Medne, L., Sumner, C. J., Dyck, P. J. B., Wierenga, K. J., Tennekoon, G., Finkel, R. S., Chen, J., Winder, T. L., Staff, N. P., Foley, A. R. & 2 others, Koch, M. & Bönnemann, C. G., Oct 1 2019, In : Annals of Clinical and Translational Neurology. 6, 10, p. 1980-1988 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • Open Access