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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2020
  2. Published

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Alonso-Pérez, J., González-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., Dam, L. T., De Visser, M., van der Kooi, A. J., Garrido, C., Santos, M., Schara, U., Gangfuß, A., Løkken, N., Storgaard, J. H., Vissing, J., Schoser, B., Dekomien, G., Udd, B., Palmio, J., D'Amico, A., Politano, L., Nigro, V., Bruno, C., Panicucci, C., Sarkozy, A., Abdel-Mannan, O., Alonso-Jimenez, A., Claeys, K. G., Gomez-Andrés, D., Munell, F., Costa-Comellas, L., Haberlová, J., Rohlenová, M., Elke, D. V., De Bleecker, J. L., Dominguez-González, C., Tasca, G., Weiss, C., Deconinck, N., Fernández-Torrón, R., López de Munain, A., Camacho-Salas, A. & Melegh, B., 1 Sep 2020, In: Brain. 143, 9, p. 2696-2708 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 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

  4. Published

    Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study

    Løkken, N., Hansen, K. K., Storgaard, J. H., Ørngreen, M. C., Quinlivan, R. & Vissing, J., Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 778-786 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Storgaard, J. H., Madsen, K. L., Løkken, N., Vissing, J., van Hall, G., Lund, A. M. & Ørngreen, M. C., May 2020, In: JIMD Reports. 53, 1, p. 16-21 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published
  7. Published

    European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

    Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A., Mercuri, E., Kynčl, M., Walter, M. C. & Carlier, R. Y., Jan 2020, In: Journal of Neurology. 267, 1, p. 45-56 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2019
  9. Published

    POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

    Vissing, J., Johnson, K., Töpf, A., Nafissi, S., Díaz-Manera, J., French, V. M., Schindler, R. F., Sarathchandra, P., Løkken, N., Rinné, S., Freund, M., Decher, N., Müller, T., Duno, M., Krag, T., Brand, T. & Straub, V., Dec 2019, In: Annals of Neurology. 86, 6, p. 832-843

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Muscle contractility of leg muscles in patients with mitochondrial myopathies

    Poulsen, N. S., Dahlqvist, J. R., Hedermann, G., Løkken, N. & Vissing, J., May 2019, In: Mitochondrion. 46, p. 221-227 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2018
  12. Published
  13. Published

    MRI in sarcoglycanopathies: a large international cohort study

    Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J., Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In: Journal of neurology, neurosurgery, and psychiatry. 89, p. 72-77

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2017
  15. Published

    Aerobic training in myotonia congenita: Effect on myotonia and fitness

    Andersen, G., Løkken, N. & Vissing, J., Oct 2017, In: Muscle and Nerve. 56, 4, p. 696-699 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2016
  17. Published

    Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA

    Hedermann, G., Løkken, N., Dahlqvist, J. R. & Vissing, J., 14 Nov 2016, In: Mitochondrion. 32, p. 27-30 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I

    Løkken, N., Hedermann, G., Thomsen, C. & Vissing, J., Sep 2016, In: Annals of Neurology. 80, 3, p. 466-71 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

    Zaharieva, I. T., Thor, M. G., Oates, E. C., van Karnebeek, C., Hendson, G., Blom, E., Witting, N., Rasmussen, M., Gabbett, M. T., Ravenscroft, G., Sframeli, M., Suetterlin, K., Sarkozy, A., D'Argenzio, L., Hartley, L., Matthews, E., Pitt, M., Vissing, J., Ballegaard, M., Krarup, C., Slørdahl, A., Halvorsen, H., Ye, X. C., Zhang, L-H., Løkken, N., Werlauff, U., Abdelsayed, M., Davis, M. R., Feng, L., Phadke, R., Sewry, C. A., Morgan, J. E., Laing, N. G., Vallance, H., Ruben, P., Hanna, M. G., Lewis, S., Kamsteeg, E-J., Männikkö, R. & Muntoni, F., 2016, In: Brain. 139, p. 674-691

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. 2015
  21. Published

    LAMA2-related myopathy; frequency among congenital and limb-girdle muscular dystrophies

    Løkken, N., Born, A. P., Duno, M. & Vissing, J., 5 Feb 2015, In: Muscle & Nerve. p. 547-553

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 45042302