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Rigshospitalet - a part of Copenhagen University Hospital

DMM Disease Models and Mechanisms, 1754-8403

Journal

  1. 2020
  2. Published

    Absence of p.R50X Pygm read-through in McArdle disease cellular models

    Tarrasó, G., Real-Martinez, A., Parés, M., Romero-Cortadellas, L., Puigros, L., Moya, L., de Luna, N., Brull, A., Martín, M. A., Arenas, J., Lucia, A., Andreu, A. L., Barquinero, J., Vissing, J., Krag, T. O. & Pinós, T., 13 Jan 2020, In : Disease models & mechanisms. 13, 1, p. dmm043281. dmm043281.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2017
  4. Published

    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    Zazo Seco, C., Castells-Nobau, A., Joo, S-H., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjærg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., Baets, J., de Jonghe, P., Kazmi, S. A. R., Sadananthan, S. A., van de Warrenburg, B. P., Khor, C-C., Göpfert, M. C., Qamar, R., Schenck, A., Kremer, H. & Siddiqi, S., 1 Feb 2017, In : Disease models & mechanisms. 10, 2, p. 105-118 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2011
  6. Published

    MMP9 is protective against lethal inflammatory mass lesions in the mouse colon

    Hald, A., Rønø, B., Melander, M. C., Ding, M. & Holck, S., 1 Mar 2011, In : Disease models & mechanisms. 4, 2, p. 212-27 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 164838