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Charlotte Sumner

Professor

1996 …2024

Research activity per year

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  • Gain-of- function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice

    Sullivan, J. M., Bagnell, A. M., Alevy, J., Avila, E. M., Mihaljević, L., Saavedra-Rivera, P. C., Kong, L., Huh, J. S., McCray, B., Aisenberg, W. H., Zuberi, A. R., Bogdanik, L., Lutz, C. M., Qiu, Z., Quinlan, K. A., Searson, P. C. & Sumner, C. J., 2024, In: Science translational medicine. 16, 748, adk1358.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Intrathecal Gene Therapy for Giant Axonal Neuropathy

    Bharucha-Goebel, D. X., Todd, J. J., Saade, D., Norato, G., Jain, M., Lehky, T., Bailey, R. M., Chichester, J. A., Calcedo, R., Armao, D., Foley, A. R., Mohassel, P., Tesfaye, E., Carlin, B. P., Seremula, B., Waite, M., Zein, W. M., Huryn, L. A., Crawford, T. O. & Sumner, C. J. & 9 others, Hoke, A., Heiss, J. D., Charnas, L., Hooper, J. E., Bouldin, T. W., Kang, E. M., Rybin, D., Gray, S. J. & Bönnemann, C. G., Mar 21 2024, In: New England Journal of Medicine. 390, 12, p. 1092-1104 13 p.

    Research output: Contribution to journal › Article › peer-review

  • Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus

    Borges, B., Varthaliti, A., Schwab, M., Clarke, M. T., Pivetti, C., Gupta, N., Cadwell, C. R., Guibinga, G., Phillips, S., Del Rio, T., Ozsolak, F., Imai-Leonard, D., Kong, L., Laird, D. J., Herzeg, A., Sumner, C. J. & MacKenzie, T. C., Jun 13 2024, In: Molecular Therapy Methods and Clinical Development. 32, 2, 101263.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernández-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J. M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R. H., Albájar, I. & Ashton, C. & 138 others, Beauchamp, N., Beecroft, S. J., Bellone, E., Berciano, J., Bogdanova-Mihaylova, P., Borroni, B., Brais, B., Bugiardini, E., Campos, C., Carr, A., Carroll, L., Castellani, F., Cavallaro, T., Chinnery, P. F., Colnaghi, S., Cosentino, G., Damasio, J., Das, S., Devigili, G., Di Bella, D., Dick, D., Durr, A., El-Saddig, A., Faber, J., Ferrarini, M., Filosto, M., Fuller, G., Gallone, S., Gemelli, C., Grandis, M., Hardy, J., Hewamadduma, C., Horvath, R., Huin, V., Imperiale, D., Iruzubieta, P., Kaski, D., King, A., Klockgether, T., Koç, M., Kumar, K. R., Kuntzer, T., Laing, N., Laurà, M., Lavin, T., Leigh, P. N., Leonardis, L., Lunn, M. P., Magri, S., Magrinelli, F., Malaquias, M. J., Mancuso, M., Manji, H., Massucco, S., McConville, J., Munhoz, R. P., Nagy, S., Ndayisaba, A., Nemeth, A. H., Novis, L. E., Palmio, J., Pegoraro, E., Pellerin, D., Perrone, B., Pisciotta, C., Polke, J., Proudfoot, M., Orsi, L., Radunovic, A., Riva, N., Robert, A., Ronco, R., Rossini, E., Rossor, A. M., Ažahbaz, I., Sa'Di, Q., Salsano, E., Salvalaggio, A., Santoro, L., Sarto, E., Schaefer, A., Schenone, A., Scriba, C., Shaw, J., Silvestri, G., Stevens, J., Strupp, M., Sumner, C. J., Szymura, A., Tagliapietra, M., Tassorelli, C., Tessa, A., Theaudin, M., Tomaselli, P., Tozza, S., Tucci, A., Valente, E. M., Versino, M., Walsh, R. A., Wood, N. W., Yau, W. Y., Zuchner, S., Parolin Schnekenberg, R., Rugginini, B., Abati, E., Manini, A., Quartesan, I., Ghia, A., Lòpez De Munaìn, A., Manganelli, F., Kennerson, M., Santorelli, F. M., Infante, J., Marques, W., Jokela, M., Murphy, S. D. S. M., Mandich, P., Fabrizi, G. M., Briani, C., Gosal, D., Pareyson, D., Ferrari, A., Prados, F., Yousry, T., Khurana, V., Kuo, S. H., Miller, J., Troakes, C., Jaunmuktane, Z., Giunti, P., Hartmann, A., Basak, N., Synofzik, M., Stojkovic, T., Hadjivassiliou, M., Reilly, M. M., Houlden, H. & Cortese, A., May 1 2024, In: Brain. 147, 5, p. 1887-1898 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation

    Kong, L., Hassinan, C. W., Gerstner, F., Buettner, J. M., Petigrow, J. B., Valdivia, D. O., Chan-Cortés, M. H., Mistri, A., Cao, A., McGaugh, S. A., Denton, M., Brown, S., Ross, J., Schwab, M. H., Simon, C. M. & Sumner, C. J., Dec 2023, In: Acta Neuropathologica Communications. 11, 1, 53.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 114 Research outputs