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Laura Ebner

  • Salzburg

    Austria

20252025

Research activity per year

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  • 1 Original Article

  • Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

    Jacob, M., Kölbel, H., Harrer, P., Kopajtich, R., Munot, P., Achleitner, M. T. (Co-author), Badmann, S., Brugger, M., Brunet, T., Bonne, G., Codina, M., Ebner, L. (Co-author), Eshraghi, P., Eyring, K., Farhat, A. S., Feichtinger, R. G. (Co-author), Graf, E., Marcé-Grau, A., Hahn, A. & Houlden, H. & 35 others, Karimiani, E. G., Manel, V., Mayerhanser, K., Nectoux, J., Nelson, I., Phadke, R., Prokisch, H., Sadeghian, S., Saparov, A., Schänzer, A., Schara-Schmidt, U., Schmidt, J., Schuler, R. (Co-author), Sewry, C., Shariati, G., Slanz, S., Smirnov, D., Sukenik-Halevy, R., Tajsharghi, H., Toosi, M. B., Trujillano, L., Weis, J., Wilson, L. C., Ben Yaou, R., Zamani, M., Zech, M., Zschüntzsch, J., Kornak, U., Goméz-Andrés, D., Maroofian, R., Winkelmann, J., Roos, A., Distelmaier, F., Mayr, J. A. (Co-author) & Wagner, M., 11 Jun 2025, (E-pub ahead of print) In: BRAIN .

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