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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2020
  2. Published

    MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy

    Dahlqvist, J. R., Widholm, P., Leinhard, O. D. & Vissing, J., Oct 2020, In: Annals of Neurology. 88, 4, p. 669-681 13 p.

    Research output: Contribution to journalReviewpeer-review

  3. Published
  4. Published

    A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

    Vissing, J., Dahlqvist, J. R., Roudaut, C., Poupiot, J., Richard, I., Duno, M. & Krag, T., Sep 2020, In: Human Mutation. 41, 9, p. 1507-1513 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

    Salim, R., Dahlqvist, J. R., Khawajazada, T., Kass, K., Revsbech, K. L., de Stricker Borch, J., Munawar Sheikh, A. & Vissing, J., Aug 2020, In: Journal of Neurology. 267, 8, p. 2432-2442 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Contractile properties are impaired in congenital myopathies

    Eisum, A-S. V., Fornander, F., Poulsen, N. S., Andersen, A. G., Dahlqvist, J., Andersen, L. K., Witting, N. & Vissing, J., Aug 2020, In: Neuromuscular disorders : NMD. 30, 8, p. 649-655 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Permanent muscle weakness in hypokalemic periodic paralysis

    Holm-Yildiz, S., Witting, N., Dahlqvist, J., de Stricker Borch, J., Solheim, T., Fornander, F., Eisum, A-S., Duno, M., Soerensen, T. & Vissing, J., 28 Jul 2020, In: Neurology. 95, 4, p. e342-e352

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

    Giacomucci, G., Monforte, M., Diaz-Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J., Van Engelen, B., Ricci, E. & Tasca, G., 22 Jul 2020, In: European Journal of Neurology. 27, 12, p. 2604-2615 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. Published

    A quantitative method to assess muscle edema using short TI inversion recovery MRI

    Dahlqvist, J. R., Salim, R., Thomsen, C. & Vissing, J., 29 Apr 2020, In: Scientific Reports. 10, 1, p. 7246

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2019
  12. Published

    Muscle contractility in spinobulbar muscular atrophy

    Dahlqvist, J. R., Oestergaard, S. T., Poulsen, N. S., Knak, K. L., Thomsen, C. & Vissing, J., 1 Dec 2019, In: Scientific Reports. 9, 1, p. 4680 4680.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints

    Murphy, A. P., Morrow, J., Dahlqvist, J. R., Stojkovic, T., Willis, T. A., Sinclair, C. D. J., Wastling, S., Yousry, T., Hanna, M. S., James, M. K., Mayhew, A., Eagle, M., Lee, L. E., Hogrel, J-Y., Carlier, P. G., Thornton, J. S., Vissing, J., Hollingsworth, K. G. & Straub, V., Jun 2019, In: Annals of Clinical and Translational Neurology. 6, 6, p. 1033-1045 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy

    Dahlqvist, J. R., Andersen, G., Khawajazada, T., Vissing, C., Thomsen, C. & Vissing, J., 1 May 2019, In: Journal of Neurology. 266, 5, p. 1127-1135 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 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

  16. Published

    Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments

    Dahlqvist, J. R., Oestergaard, S. T., Poulsen, N. S., Thomsen, C. & Vissing, J., 5 Feb 2019, In: Neurology. 92, 6, p. e548-e559

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2018
  18. Published

    Disease progression and outcome measures in spinobulbar muscular atrophy

    Dahlqvist, J. R., Fornander, F., de Stricker Borch, J., Oestergaard, S. T., Poulsen, N. S. & Vissing, J., Nov 2018, In: Annals of Neurology. 84, 5, p. 754-765 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome

    Witting, N., Laforêt, P., Voermans, N. C., Roux-Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E-J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J. & Behin, A., May 2018, In: Acta Neurologica Scandinavica. 137, 5, p. 452-461 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published
  21. Published

    Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

    Witting, N., Krag, T., Werlauff, U., Duno, M., Oestergaard, S. T., Dahlqvist, J. R. & Vissing, J., 2018, In: Muscle and Nerve. 57, 6, p. 1026-1030

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2017
  23. Published

    Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

    Ben Yaou, R., Hubert, A., Nelson, I., Dahlqvist, J. R., Gaist, D., Streichenberger, N., Beuvin, M., Krahn, M., Petiot, P., Parisot, F., Michel, F., Malfatti, E., Romero, N., Carlier, R. Y., Eymard, B., Labrune, P., Duno, M., Krag, T., Cerino, M., Bartoli, M., Bonne, G., Vissing, J., Laforet, P. & Petit, F. M., Dec 2017, In: Neurology. Genetics. 3, 6, p. e208

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Diabetes in Myotonic Dystrophy

    Dahlqvist, J. R. & Vissing, J., 2017, Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities. Barbetti, F., Ghizzoni, L. & Guaraldi, F. (eds.). Basel: Karger, p. 182-187

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  25. Published

    Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults

    Dahlqvist, J. R., Vissing, C. R., Hedermann, G., Thomsen, C. & Vissing, J., 2017, In: Medicine and Science in Sports and Exercise. 49, 3, p. 596-601

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients

    Andersen, G., Dahlqvist, J. R., Vissing, C. R., Heje, K., Thomsen, C. & Vissing, J., 2017, In: Journal of Neurology. 264, p. 438-447

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2016
  28. Published

    Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

    Østergaard, S. T., Stojkovic, T., Dahlqvist, J. R., Bouchet-Seraphin, C., Nectoux, J., Leturcq, F., Cossée, M., Solé, G., Thomsen, C., Krag, T. O. & Vissing, J., Dec 2016, In: Neurology. Genetics. 2, 6, p. e112

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 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

  30. Published

    Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders

    Dahlqvist, J. R. & Vissing, J., 2016, In: Journal of Molecular Neuroscience. 58, 3, p. 388-393

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. 2015
  32. Published

    Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study

    Andersen, G., Prahm, K. P., Dahlqvist, J. R., Citirak, G. & Vissing, J., 4 Aug 2015, In: Neurology. 85, 5, p. 396-403 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    Semplicini, C., Vissing, J., Dahlqvist, J. R., Stojkovic, T., Bello, L., Witting, N., Duno, M., Leturcq, F., Bertolin, C., D'Ambrosio, P., Eymard, B., Angelini, C., Politano, L., Laforêt, P. & Pegoraro, E., 28 Apr 2015, In: Neurology. 84, 17, p. 1772-81 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published
  35. Published
  36. 2014
  37. Published

    Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy

    Dahlqvist, J. R., Vissing, C. R., Thomsen, C. & Vissing, J., 23 Sep 2014, In: Neurology. 83, 13, p. 1178-83 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    A pilot study of muscle plasma protein changes after exercise

    Dahlqvist, J. R., Voss, L. G., Lauridsen, T., Krag, T. O. & Vissing, J., Feb 2014, In: Muscle & Nerve. 49, 2, p. 261-6 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2013
  40. Published

    Muscle biopsies off-set normal cellular signaling in surrounding musculature

    Krag, T. O., Hauerslev, S., Dahlqvist, J. R. & Vissing, J., Dec 2013, In: Neuromuscular disorders : NMD. 23, 12, p. 981-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 43186653