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Luke Smith

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  • EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

    Byrne, S., Jansen, L., U-King-im, J. M., Siddiqui, A., Lidov, H. G. W., Bodi, I., Smith, L., Mein, R., Cullup, T., Dionisi-Vici, C., Al-Gazali, L., Al-Owain, M., Bruwer, Z., Al Thihli, K., El-Garhy, R., Flanigan, K. M., Manickam, K., Zmuda, E., Banks, W. & Gershoni-Baruch, R. & 34 others, Mandel, H., Dagan, E., Raas-Rothschild, A., Barash, H., Filloux, F., Creel, D., Harris, M., Hamosh, A., Kölker, S., Ebrahimi-Fakhari, D., Hoffmann, G. F., Manchester, D., Boyer, P. J., Manzur, A. Y., Lourenco, C. M., Pilz, D. T., Kamath, A., Prabhakar, P., Rao, V. K., Rogers, R. C., Ryan, M. M., Brown, N. J., McLean, C. A., Said, E., Schara, U., Stein, A., Sewry, C., Travan, L., Wijburg, F. A., Zenker, M., Mohammed, S., Fanto, M., Gautel, M. & Jungbluth, H., 1 Mar 2016, In: Brain. 139, 3, p. 765-781 17 p.

    Research output: Contribution to journalArticlepeer-review

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    100 Citations (Scopus)
    131 Downloads (Pure)
  • Vici syndrome: a review

    Byrne, S., Dionisi-Vici, C., Smith, L., Gautel, M. & Jungbluth, H., 29 Feb 2016, In: Orphanet Journal of Rare Diseases. 11, 1, p. 21

    Research output: Contribution to journalArticlepeer-review

    Open Access
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    58 Citations (Scopus)
    286 Downloads (Pure)