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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2021
  2. Published

    Myopathy can be a key phenotype of membrin (GOSR2) deficiency

    Stemmerik, M. G., Borch, J. D. S., Dunø, M., Krag, T. & Vissing, J., Sep 2021, In: Human Mutation. 42, 9, p. 1101-1106 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2020
  4. Published

    Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforêt, P., San-Millán, B., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, J. & EUROMAC Consortium, Dec 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330 330.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Results of an open label feasibility study of sodium valproate in people with McArdle disease

    Scalco, R. S., Stemmerik, M., Løkken, N., Vissing, C. R., Madsen, K. L., Michalak, Z., Pattni, J., Godfrey, R., Samandouras, G., Bassett, P., Holton, J. L., Krag, T., Haller, R. G., Sewry, C., Wigley, R., Vissing, J. & Quinlivan, R., Sep 2020, In: Neuromuscular disorders : NMD. 30, 9, p. 734-741 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published
  7. 2019
  8. Published

    Fat oxidation is impaired during exercise in lipin-1 deficiency

    Raaschou-Pedersen, D., Madsen, K. L., Stemmerik, M. G., Eisum, A-S. V., Straub, V. & Vissing, J., 8 Oct 2019, In: Neurology. 93, 15, p. e1433-e1438

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    No effect of triheptanoin on exercise performance in McArdle disease

    Madsen, K. L., Laforêt, P., Buch, A. E., Stemmerik, M. G., Ottolenghi, C., Hatem, S. N., Raaschou-Pedersen, D. T., Poulsen, N. S., Atencio, M., Luton, M-P., Ceccaldi, A., Haller, R. G., Quinlivan, R., Mochel, F. & Vissing, J., Oct 2019, In: Annals of Clinical and Translational Neurology. 6, 10, p. 1949-1960 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published
  11. Published

    Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

    Madsen, K. L., Preisler, N., Buch, A. E., Stemmerik, M. G., Laforêt, P. & Vissing, J., Mar 2019, In: JIMD Reports. 46, 1, p. 79-84 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2017
  13. Published

    Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency

    Stemmerik, M. G., Madsen, K. L., Laforêt, P., Buch, A. E. & Vissing, J., 12 Dec 2017, In: Neurology. 89, 24, p. 2491-2494 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 52415944