John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


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  1. Published

    160th ENMC International Workshop (First ENMC practical care workshop) Exercise training in patients with muscle diseases: 20-22 June 2008, Naarden, The Netherlands

    Vissing, John & van Engelen, B. G. M., 2013, In: Neuromuscular Disorders. 23, 2, p. 182-7 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28-30 November 2008, Bussum, The Netherlands

    Laforêt, P., Vianey-Saban, C. & Vissing, John, 1 Apr 2010, In: Neuromuscular Disorders. 20, 4, p. 283-9 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    188th ENMC International Workshop: Inclusion Body Myositis, 2–4 December 2011, Naarden, The Netherlands

    Rose, M. R., Group, E. I. W. & Vissing, John, 2013, In: Neuromuscular Disorders. 23, 12, p. 1044-1055 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France

    Sarcoglycanopathies Working Group, S. W. G., 2017, In: Neuromuscular Disorders. 27, 7, p. 683-692

    Research output: Contribution to journal › Conference article › Research

  5. Published

    211th ENMC International Workshop: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands

    Workshop Participants, W. P. & Vissing, John, 2017, In: Neuromuscular Disorders. 27, 12, p. 1143-1151

    Research output: Contribution to journal › Comment/debate › Research

  6. Published

    216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands

    Richard, I., Laurent, J., Cirak, S., Vissing, John & ENMC FKRP Study Group, E. F. S. G., Oct 2016, In: Neuromuscular Disorders. 26, 10, p. 717-724 8 p.

    Research output: Contribution to journal › Comment/debate › Research

  7. Published

    222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016

    Wood, L., Bassez, G., van Engelen, B., Lochmüller, H., Schoser, B., 222nd ENMC workshop participants, 2. E. W. P., Atalaiae, A., Balabanovf, P., Bassez, G., Treweek, S., Vissing, John & Wood, L., 2018, In: Neuromuscular Disorders. 28, 5, p. 463-469

    Research output: Contribution to journal › Comment/debate › Research

  8. Published

    229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017

    Straub, V., Murphy, A., Udd, B., LGMD workshop study group, L. W. S. G., Angelini, C., Aymé, S., Bönnemann, C., Urtizberea, A., Vissing, John & Walter, M., 2018, In: Neuromuscular Disorders. 28, 8, p. 702-710

    Research output: Contribution to journal › Comment/debate › Research

  9. Published

    233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017

    Lostal, W., Urtizberea, J. A., Richard, I., calpain 3 study group, C. 3. S. G., Alonso-Jiménez, A., Carlier, R., Carson, V., Vainzof, M., Vissing, John & Walter, M., 2018, In: Neuromuscular Disorders. 28, 6, p. 540-549

    Research output: Contribution to journal › Comment/debate › Research

  10. Published

    251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

    Laforêt, P., Oldfors, A., Malfatti, E., Vissing, J., Colle, M. A., Duran, J., Gentry, M., Guinovart, J., Hurley, T., Kakhlon, O., Krag, T., Landy, H., Lilleør, C. B., Minassian, B., Mingozzi, F., Murphy, E., Piercy, R., Piraud, M., Ramanan, V., Stemmerik, M. & 3 others, Thomsen, C., Weil, M. & ENMC 251st workshop study group, E. 2. W. S. G., 2021, In: Neuromuscular Disorders. 31, 5, p. 466-477 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. Published

    254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022

    254th ENMC Workshop Study Group, 2. E. W. S. G., 2023, In: Neuromuscular Disorders. 33, 6, p. 511-522 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. Published

    263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

    Sarkozy, A., Quinlivan, R., Bourke, J. P., Ferlini, A., Barthélémy, I., Cripe, L. H., Reuben, E., Evangelista, T., Florian, A., Gribnau, J., Gonzalez-Quereda, L., Guglieri, M., Niks, E., Phadke, R., Politano, L., Quinlivan, R., Vissing, J., Voermans, N., Vroom, E., Pietrusz, A. & 3 others, Fortunato, F., Houwen, S. & ENMC 263rd Workshop Study Group, E. 2. W. S. G., 2023, In: Neuromuscular Disorders. 33, 3, p. 274-284 11 p.

    Research output: Contribution to journal › Conference article › Research › peer-review

  13. Published

    264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021

    Industry participants, I. P. & Workshop Participants, W. P., 2022, In: Neuromuscular Disorders. 32, 8, p. 697-705 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  14. Published

    265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands

    Monforte, M., Attarian, S., Vissing, John, Diaz-Manera, J., Tasca, G. & 265th ENMC workshop participants, 2. E. W. P., 2023, In: Neuromuscular Disorders. 33, 1, p. 65-75 11 p.

    Research output: Contribution to journal › Journal article › Communication

  15. Published

    31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy.

    Dysgaard, Tina, Quistorff, B., Wibrand, F. & Vissing, John, 2007, In: Journal of Neurology. 254, 1, p. 29-37 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  16. Published

    BAG3 myopathy is not always associated with cardiomyopathy

    Andersen, A. G., Fornander, F., Schrøder, H. D., Krag, T., Straub, V., Duno, M. & Vissing, John, 2018, In: Neuromuscular Disorders. 28, 9, p. 798-801

    Research output: Contribution to journal › Journal article › Research › peer-review

  17. Published

    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Care4Rare Canada Consortium, C. C. C., Dec 2019, In: Acta Neuropathologica. 138, 6, p. 1013-1031 19 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  18. Published

    NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

    Ranu, N., Laitila, J., Dugdale, H. F., Mariano, J., Kolb, J. S., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, J. J., Fiorillo, C., Zanoteli, E., Auranen, M., Jokela, M., Tasca, G., Claeys, K. G., Voermans, N. C., Palmio, J., Huovinen, S., Moggio, M., Beck, T. N. & 3 others, Kontrogianni-Konstantopoulos, A., Granzier, H. & Ochala, Julien, 2022, In: Acta Neuropathologica Communications. 10, 185.

    Research output: Contribution to journal › Journal article › Research › peer-review

  19. Published

    Nampt controls skeletal muscle development by maintaining Ca2+ homeostasis and mitochondrial integrity

    Basse, A. L., Agerholm, M., Farup, J., Dalbram, E., Nielsen, J., Ørtenblad, N., Altıntaş, A., Ehrlich, A. M., Krag, T., Bruzzone, S., Dall, M., de Guia, R. M., Jensen, J. B., Møller, A. B., Karlsen, A., Kjær, M., Barrès, R., Vissing, J., Larsen, S., Jessen, N. & 1 others, Treebak, Jonas Thue, 2021, In: Molecular Metabolism. 53, 101271.

    Research output: Contribution to journal › Journal article › Research › peer-review

  20. Published

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

    Vissing, John, 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 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  21. Published

    A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

    Echaniz-Laguna, A., Lornage, X., Laforêt, P., Orngreen, M. C., Edelweiss, E., Brochier, G., Bui, M. T., Silva-Rojas, R., Birck, C., Lannes, B., Romero, N. B., Vissing, John, Laporte, J. & Böhm, J., 2020, In: Annals of Neurology. 88, 2, p. 274-282

    Research output: Contribution to journal › Journal article › Research › peer-review

  22. Published

    A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans

    Krag, T. O. & Vissing, John, Dec 2015, In: Journal of Neuropathology and Experimental Neurology. 74, 12, p. 1137-46 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  23. Published

    A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

    Anvar, S. Y., Raz, Y., Verway, N., van der Sluijs, B., Venema, A., Goeman, J. J., Vissing, John, van der Maarel, S. M., 't Hoen, P. A. C., van Engelen, B. G. M. & Raz, V., 2013, In: Aging. 5, 6, p. 412-26 15 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  24. Published

    A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

    Vissing, John, Barresi, R., Witting, N., Van Ghelue, M., Gammelgaard, L., Bindoff, L. A., Straub, V., Lochmüller, H., Hudson, J., Arnardottir, S., Dahlbom, K., Jonsrud, C. & Duno, M., 30 Apr 2016, In: Brain. 139, 8, p. 2154-2163 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  25. Published

    A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

    Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, Elsebet & Vissing, John, Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  26. Published

    A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy

    Riisager, M., Duno, M., Hansen, F. J., Krag, T. O., Vissing, C. R. & Vissing, John, 2013, In: Neuromuscular Disorders. 23, 7, p. 562-567 6 p.

    Research output: Contribution to journal › Letter › Research › peer-review

  27. Published

    A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy

    Jeppesen, T. D., Duno, M., Risom, L., Wibrand, F., Rafiq, J., Krag, T., Jakobsen, J., Andersen, H. & Vissing, John, Feb 2014, In: Neuromuscular Disorders. 24, 2, p. 162-166 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  28. Published

    A pilot study of muscle plasma protein changes after exercise

    Dahlqvist, J. R., Voss, L. G., Lauridsen, T., Krag, T. O. & Vissing, John, Feb 2014, In: Muscle & Nerve. 49, 2, p. 261-266 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  29. Published

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

    Dahlqvist, J. R., Salim, R., Thomsen, C. & Vissing, John, 1 Dec 2020, In: Scientific Reports. 10, 1, 7 p., 7246 .

    Research output: Contribution to journal › Journal article › Research › peer-review

  30. Published

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

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

    Research output: Contribution to journal › Journal article › Research › peer-review

  31. Published

    A third case of congenital myasthenic syndrome caused by mutations in SCN4A

    Witting, N., Werlauff, U., Ballegaard, Martin & Vissing, John, Oct 2015, p. S209-S209. 1 p.

    Research output: Contribution to conference › Poster › Research › peer-review

  32. Published

    Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

    Bachmann, C., Noreen, F., Voermans, N. C., Schär, P. L., Vissing, John, Fock, J. M., Bulk, S., Kusters, B., Moore, S. A., Beggs, A. H., Mathews, K. D., Meyer, M., Genetti, C. A., Meola, G., Cardani, R., Mathews, E., Jungbluth, H., Muntoni, F., Zorzato, F. & Treves, S., Jul 2019, In: Human Mutation. 40, 7, p. 962-974 13 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  33. Published

    Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations

    Sonne, A., Antonovic, A. K., Thomsen, Elise Julie Melhedegaard, Akter, F., Andersen, J. L., Jungbluth, H., Witting, N., Vissing, John, Zanoteli, E., Fornili, A. & Ochala, Julien, 2023, In: Acta Physiologica. 239, 2, 14 p., e14035.

    Research output: Contribution to journal › Journal article › Research › peer-review

  34. 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., Luna, N., Brull, A., Martín, M. A., Arenas, J., Lucia, A., Andreu, A. L., Barquinero, J., Vissing, John, Krag, T. O. & Pinós, T., 2020, In: Disease Models & Mechanisms. 13, 12 p., dmm043281.

    Research output: Contribution to journal › Journal article › Research › peer-review

  35. Published

    Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

    Verdú-Díaz, J., Alonso-Pérez, J., Nuñez-Peralta, C., Tasca, G., Vissing, John, Straub, V., Fernández-Torrón, R., Llauger, J., Illa, I. & Díaz-Manera, J., 2020, In: Neurology. 94, 10, p. e1094-e1102

    Research output: Contribution to journal › Journal article › Research › peer-review

  36. Published

    Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity

    Naume, Marie Mostue, Zhao, Q., Haslund-Krog, S. S., Krag, T., Winter, B. C. M. D., Revsbech, K. L., Vissing, John, Holst, H., Møller, Morten Hylander, Hornsyld, T. M., Dunø, M., Høi-Hansen, Christina Engel, Born, A. P., Bo Jensen, P. & Cathrine Ørngreen, M., 2024, In: Neuromuscular Disorders. 34, p. 9-18 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  37. Published

    Adaptations in mitochondrial enzymatic activity occurs independent of genomic dosage in response to aerobic exercise training and deconditioning in human skeletal muscle

    Fritzen, Andreas Mæchel, Thøgersen, F. B., Thybo, K., Vissing, C. R., Krag, T. O., Ruiz-Ruiz, C., Risom, L., Wibrand, F., Høeg, L. D., Kiens, Bente, Duno, M., Vissing, John & Jeppesen, T. D., 2019, In: Cells. 8, 3, 16 p., 237.

    Research output: Contribution to journal › Journal article › Research › peer-review

  38. Published

    Aerobic Training in Patients with Congenital Myopathy

    Hedermann, G., Vissing, C. R., Jensen, K., Preisler, N., Witting, N. & Vissing, John, 2016, In: PLoS ONE. 11, 1, 9 p., e0146036.

    Research output: Contribution to journal › Journal article › Research › peer-review

  39. Published

    Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study

    Knak, K. L., Andersen, L. K. & Vissing, John, 2017, In: Brain and Behavior. 7, 12, 5 p., e00794.

    Research output: Contribution to journal › Journal article › Research › peer-review

  40. Published

    Aerobic fitness after JDM--a long-term follow-up study

    Mathiesen, P. R., Ørngreen, M. C., Vissing, John, Andersen, L. B., Herlin, T. & Nielsen, S., 2013, In: Rheumatology. 52, 2, p. 287-95 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  41. Published

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

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

    Research output: Contribution to journal › Journal article › Research › peer-review

  42. Published

    Aerobic training in myotonia congenita: Effect on myotonia and fitness

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

    Research output: Contribution to journal › Journal article › Research › peer-review

  43. Published

    Aerobic training in patients with anoctamin 5 myopathy and hyperckemia

    Vissing, C. R., Preisler, N., Husu, E., Prahm, K. P. & Vissing, John, Jul 2014, In: Muscle & Nerve. 50, 1, p. 119-123 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  44. Published

    Aerobic training in persons who have recovered from juvenile dermatomyositis

    Riisager, M., Mathiesen, P. R., Vissing, John, Preisler, N. R. & Orngreen, M. C., 2013, In: Neuromuscular Disorders. 23, 12, p. 962–968 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  45. Published

    Age-associated salivary microRNA biomarkers for oculopharyngeal muscular dystrophy

    Raz, V., Kroon, R. H. M. J. M., Mei, H., Riaz, M., Buermans, H., Lassche, S., Horlings, C., De Swart, B., Kalf, J., Harish, P., Vissing, John, Kielbasa, S. & van Engelen, B. G. M., 2020, In: International Journal of Molecular Sciences . 21, 17, p. 1-15 15 p., 6059.

    Research output: Contribution to journal › Journal article › Research › peer-review

  46. Published

    Altered somatosensory neurovascular response in patients with Becker muscular dystrophy

    Lindberg, U., Kruuse, Christina Rostrup, Witting, N., Jørgensen, S. L., Vissing, John, Rostrup, E. & Larsson, Henrik Bo Wiberg, 2018, In: Brain and Behavior. 8, 6, 9 p., e00985.

    Research output: Contribution to journal › Journal article › Research › peer-review

  47. Published

    Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

    Witting, N., Duno, M., Petri, H., Krag, T., Bundgård, Henning, Køber, Lars Valeur & Vissing, John, 2013, In: Journal of Neurology. 260, 8, p. 2084-2093 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  48. Published

    Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy

    Berthelsen, M. P., Husu, E., Christensen, S. B., Prahm, K. P., Vissing, John & Jensen, B. R., 2014, In: Neuromuscular Disorders. 24, 6, p. 492-498 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  49. Published

    Antimyostatin treatment in health and disease: The story of great expectations and limited success

    Nielsen, T. L., Vissing, John & Krag, T. O., 2021, In: Cells. 10, 3, 31 p., 533.

    Research output: Contribution to journal › Review › Research › peer-review

  50. Published

    Arvelige neurometaboliske sygdomme

    Skovby, F. & Vissing, John, 2010, Klinisk neurologi og neurokirurgi. Gjerris, F., Paulson, O. B. & Sørensen, P. S. (eds.). 5 ed. p. 555-564 10 p.

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  51. Published

    Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?

    Krag, T. O., Holm-Yildiz, S., Witting, N. & Vissing, John, 2021, In: Acta Neuropathologica Communications. 9, 16 p., 109.

    Research output: Contribution to journal › Journal article › Research › peer-review

  52. Published

    Axial muscle involvement in patients with limb girdle muscular dystrophy type R9

    Revsbech, K. L., Rudolf, K., Sheikh, A. M., Khawajazada, T., Borch, J. S., Dahlqvist, J. R., Lokken, N., Witting, N. & Vissing, John, Apr 2022, In: Muscle & Nerve. 65, 4, p. 405-414 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  53. Published

    Axial myopathy: an overlooked feature of muscle diseases

    Witting, N., Andersen, L. K. & Vissing, John, 2016, In: Brain. 139, 1, p. 13-22 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  54. Published

    Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

    Witting, N., Duno, M. & Vissing, John, 2013, In: Neuromuscular Disorders. 23, 1, p. 25-8 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  55. Published

    Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

    Ørngreen, M. C., Madsen, K. L., Preisler, N., Andersen, G., Vissing, John & Laforêt, P., 18 Feb 2014, In: Neurology. 82, 7, p. 607-613 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  56. Published

    Bimagrumab vs Optimized Standard of Care for Treatment of Sarcopenia in Community-Dwelling Older Adults: A Randomized Clinical Trial

    Rooks, D., Swan, T., Goswami, B., Filosa, L. A., Bunte, O., Panchaud, N., Coleman, L. A., Miller, R. R., Garcia Garayoa, E., Praestgaard, J., Perry, R. G., Recknor, C., Fogarty, C. M., Arai, H., Chen, L. K., Hashimoto, J., Chung, Y. S., Vissing, J., Laurent, D., Petricoul, O. & 4 others, Hemsley, S., Lach-Trifilieff, E., Papanicolaou, D. A. & Roubenoff, R., 2020, In: JAMA Network Open. 3, 10, 13 p., e2020836.

    Research output: Contribution to journal › Journal article › Research › peer-review

  57. Published

    Blocked muscle fat oxidation during exercise in neutral lipid storage disease

    Laforêt, P., Ørngreen, M., Preisler, N., Andersen, G. & Vissing, John, 2012, In: Archives of Neurology. 69, 4, p. 530-3 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  58. Published

    Body weight-supported training in Becker and Limb Girdle 2I muscular dystrophy

    Jensen, B. R., Berthelsen, M. P., Husu, E., Christensen, S. B., Prahm, K. P. & Vissing, John, 2016, In: Muscle & Nerve. 54, 2, p. 239-243 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  59. Published

    Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis

    Witting, N., Daugaard, D., Prytz, S., Biernat, H., Diederichsen, Louise C P Raun & Vissing, John, 2022, In: Journal of Neurology. 269, 8, p. 4154-4160 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  60. Published

    Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies

    Hauerslev, S., Sveen, M., Duno, M., Angelini, C., Vissing, John & Krag, T. O., 2012, In: B M C Musculoskeletal Disorders. 13, p. 43-53 11 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  61. Published

    Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study

    Løkken, N., Nielsen, M. R., Stemmerik, M. G., Ellerton, C., Revsbech, K. L., Macrae, M., Slipsager, A., Krett, B., Beha, G. H., Emanuelsson, F., van Hall, Gerrit, Quinlivan, R. & Vissing, John, 2023, In: Clinical Nutrition. 42, 11, p. 2124-2137 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  62. Published

    Carbohydrate- and protein-rich diets in McArdle disease: Effects on exercise capacity

    Andersen, S. T. & Vissing, John, 2008, In: Journal of Neurology, Neurosurgery and Psychiatry. 79, 12, p. 1359-1363 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  63. Published

    Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

    Solheim, T. Å., Fornander, F., Raja, A. A., Møgelvang, R., Poulsen, N. S., Dunø, M., Bundgård, Henning & Vissing, John, 2021, In: Frontiers in Neurology. 12, 10 p., 707838.

    Research output: Contribution to journal › Journal article › Research › peer-review

  64. Published

    Cardiac Outcomes in Adults With Mitochondrial Diseases

    Savvatis, K., Vissing, C. R., Klouvi, L., Florian, A., Rahman, M., Béhin, A., Fayssoil, A., Masingue, M., Stojkovic, T., Bécane, H. M., Berber, N., Mochel, F., Duboc, D., Fontaine, B., Krett, B., Stalens, C., Lejeune, J., Pitceathly, R. D. S., Lopes, L., Saadi, M. & 15 others, Gossios, T., Procaccio, V., Spinazzi, M., Tard, C., De Groote, P., Dhaenens, C. M., Douillard, C., Echaniz-Laguna, A., Quinlivan, R., Hanna, M. G., Yilmaz, A., Vissing, John, Laforêt, P., Elliott, P. & Wahbi, K., 2022, In: Journal of the American College of Cardiology. 80, 15, p. 1421-1430

    Research output: Contribution to journal › Journal article › Research › peer-review

  65. Published

    Cardiac involvement in myotonic dystrophy: a nationwide cohort study

    Lund, M., Diaz, L. J., Ranthe, M. F., Petri, H., Duno, M., Juncker, I., Eiberg, Hans Rudolf Lytchoff, Vissing, John, Bundgaard, H., Wohlfahrt, J. & Melbye, M., 21 Aug 2014, In: European Heart Journal. 35, 32, p. 2158-2164 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  66. Published

    Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

    Sveen, M., Thune, J. J., Køber, Lars Valeur & Vissing, John, 2008, In: Archives of Neurology. 65, 9, p. 1196-201 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  67. Published

    Cardiac manifestations of myotonic dystrophy type 1

    Petri, H., Vissing, John, Witting, N., Bundgaard, H. & Køber, Lars Valeur, 2012, In: International Journal of Cardiology. 160, 2, p. 82-8 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  68. Published

    Causes of symptom dissatisfaction in patients with generalized myasthenia gravis

    Andersen, L. K., Jakobsson, A. S., Revsbech, K. L. & Vissing, John, 2022, In: Journal of Neurology. 269, p. 3086–3093

    Research output: Contribution to journal › Journal article › Research › peer-review

  69. Published

    Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study

    Werlauff, U., Vissing, John & Steffensen, B. F., 2012, In: Neuromuscular Disorders. 22, 12, p. 1069-74 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  70. 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, John, 2020, In: Journal of Neurology. 267, 8, p. 2432-2442

    Research output: Contribution to journal › Journal article › Research › peer-review

  71. Published

    Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

    Grunnet, Morten, Jespersen, Thomas, Colding-Jørgensen, E., Schwartz, M., Klærke, Dan Arne, Vissing, John, Olesen, Søren-Peter & Dunø, M., 2003, In: Muscle & Nerve. 28, 6, p. 722-32 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  72. Published

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

    Semplicini, C., Vissing, John, 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 journal › Journal article › Research › peer-review

  73. Published

    Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

    Gavassini, B. F., Carboni, N., Nielsen, Jørgen Erik, Danielsen, E. R., Thomsen, C., Svenstrup, K., Bello, L., Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, John & Pegoraro, E., Nov 2011, In: Muscle & Nerve. 44, 5, p. 703-9 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  74. Published

    Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient

    Witting, N., Crone, C., Duno, M. & Vissing, John, Mar 2015, In: Clinical Neurology and Neurosurgery. 130, p. 168-70 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  75. 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. & 4 others, Bonne, G., Vissing, John, Laforet, P. & Petit, F. M., Dec 2017, In: Neurology: Genetics. 3, 6, 11 p., e208.

    Research output: Contribution to journal › Journal article › Research › peer-review

  76. Published

    Clinical presentation and mutations in Danish patients with Wilson disease

    Møller, L. B., Horn, N., Jeppesen, T. D., Vissing, John, Wibrand, F., Jennum, Poul & Ott, P., 2011, In: European Journal of Human Genetics. 19, 9, p. 935-41 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  77. 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, John, 2018, In: Muscle & Nerve. 57, 6, p. 1026-1030

    Research output: Contribution to journal › Journal article › Research › peer-review

  78. Published

    Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

    Høi-Hansen, Christina Engel, Tygesen, M. L. B., Dunø, M., Vissing, John, Ballegaard, Martin & Born, P., 2021, In: Neuropediatrics. 52, 6, p. 462-468

    Research output: Contribution to journal › Journal article › Research › peer-review

  79. Published

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, Ryan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Töpf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, John, Coppens, S., Deconinck, N., Luk, H. M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E. J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Bönnemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., 2018, In: Annals of Neurology. 83, 6, p. 1105-1124 20 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  80. Published

    Congenital myopathies are mainly associated with a mild cardiac phenotype

    Petri, H., Wahbi, K., Witting, N., Køber, Lars Valeur, Bundgård, Henning, Kamoun, E., Vellieux, G., Stojkovic, T., Béhin, A., Laforet, P. & Vissing, John, Jun 2019, In: Journal of Neurology. 266, 6, p. 1367-1375 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  81. Published

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

    Løkken, N., Hedermann, G., Thomsen, C. & Vissing, John, Sep 2016, In: Annals of Neurology. 80, 3, p. 466-471 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  82. Published

    Contractile properties are impaired in congenital myopathies

    Eisum, A. V., Fornander, F., Poulsen, N. S., Andersen, A. G., Dahlqvist, J., Andersen, L. K., Witting, N. & Vissing, John, 1 Aug 2020, In: Neuromuscular Disorders. 30, 8, p. 649-655 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  83. Published

    Correlation between myasthenia gravis-activities of daily living (MG-ADL) and quantitative myasthenia gravis (QMG) assessments of anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis in the phase 3 regain study

    Vissing, John, O'Brien, F., Wang, J. J. & Howard, J. F., 2018, In: Muscle & Nerve. 58, 2, p. E21-E22

    Research output: Contribution to journal › Journal article › Research › peer-review

  84. Published

    Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

    Andersen, S. P., Sveen, M., Wils, Regitze Sølling, Madsen, K. L., Hansen, J. B., Madsen, M. L. & Vissing, John, 2013, In: Muscle & Nerve. 48, 6, p. 897-901 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  85. Published

    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    Pinós, T., Andreu, A. L., Bruno, C., Hadjigeorgiou, G. M., Haller, R., Laforêt, P., Lucía, A., Martín, M. A., Martinuzzi, A., Navarro, C., Oflazer, P., Pouget, J., Quinlivan, R., Sacconi, S., Scalco, R. S., Toscano, A., Vissing, J., Vorgerd, M., Wakelin, A., Martí, R. & 14 others, Baruch, N., Ortega, F. J., San-Millán, B., Vieitez, I., Vavla, M., Musumeci, O., Scalco, R., Hadjgeorgiou, G., Zintzaras, E., Zülow, E., Haller, R., Durmus, H., Santalla, A. & EUROMAC Consortium, E. C., 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 187.

    Research output: Contribution to journal › Journal article › Research › peer-review

  86. Published

    Cytokine genes as potential biomarkers for muscle weakness in OPMD

    Riaz, M., Raz, Y., van der Slujis, B., Dickson, G., van Engelen, B., Vissing, John & Raz, V., 1 Oct 2016, In: Human Molecular Genetics. 25, 19, p. 4282-4287 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  87. Published

    DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

    Gaist, D., Mogensen, J., Pedersen, E. G., Schrøder, H. D., Vissing, John, Andersen, H. & Hertz, J. M., 15 Aug 2017, In: Journal of the Neurological Sciences. 379, p. 217-218 2 p.

    Research output: Contribution to journal › Comment/debate › Research

  88. Published

    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

    Karazi, W., Scalco, R. S., Stemmerik, M. G., Løkken, N., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Kouwenberg, C. V., Laforêt, P., Millán, B. S., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S., Durmus, H. & 9 others, Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, John, Voermans, N. C. & EUROMAC Consortium, E. C., 2023, In: Orphanet Journal of Rare Diseases. 18, 9 p., 210.

    Research output: Contribution to journal › Journal article › Research › peer-review

  89. 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. & 7 others, Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, John & EUROMAC Consortium, E. C., 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330

    Research output: Contribution to journal › Journal article › Research › peer-review

  90. Published

    Decreased Variability of the 6-Minute Walk Test by Heart Rate Correction in Patients with Neuromuscular Disease

    Prahm, K. P., Witting, N. & Vissing, John, 2014, In: PLOS ONE. 9, 12, p. 1-8 8 p., e114273.

    Research output: Contribution to journal › Journal article › Research › peer-review

  91. Published

    Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

    Laforêt, P., Inoue, M., Goillot, E., Lefeuvre, C., Cagin, U., Streichenberger, N., Leonard-Louis, S., Brochier, G., Madelaine, A., Labasse, C., Hedberg-Oldfors, C., Krag, T., Jauze, L., Fabregue, J., Labrune, P., Milisenda, J., Nadaj-Pakleza, A., Sacconi, S., Mingozzi, F., Ronzitti, G. & 7 others, Petit, F., Schoser, B., Oldfors, A., Vissing, John, Romero, N. B., Nishino, I. & Malfatti, E., 2019, In: Acta Neuropathologica Communications. 7, 16 p., 167.

    Research output: Contribution to journal › Journal article › Research › peer-review

  92. 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. & 3 others, Van Engelen, B., Ricci, E. & Tasca, G., 2020, In: European Journal of Neurology. 27, 12, p. 2604-2615 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  93. Published

    Defekter i den neuromuskulære transmission.

    Vissing, John & Paulson, O. B., 2010, Klinisk neurologi og neurokirurgi. 5 ed. København, p. 615-621 6 p.

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  94. Published

    Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing

    Mensah, A., Witting, N., Duno, M., Milea, D. & Vissing, John, 2014, In: Acta Ophthamologica (Online). 92, 3, p. e247-e249

    Research output: Contribution to journal › Comment/debate › Research › peer-review

  95. Published

    Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype

    Witting, N., Duno, M. & Vissing, John, 2011, In: Acta Myologica. 30, 3, p. 182-4 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  96. Published

    Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance

    Leermakers, P. A., Dybdahl, K. L. T., Husted, K. S., Riisager, A., de Paoli, F. V., Pinós, T., Vissing, John, Krag, T. O. B. & Pedersen, T. H., 2020, In: Frontiers in Neurology. 11, 541.

    Research output: Contribution to journal › Journal article › Research › peer-review

  97. Published

    Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

    Anvar, S. Y., hoen, P. A., Venema, A., van der Sluijs, B., van Engelen, B., Snoeck, M., Vissing, John, Trollet, C., Dickson, G., Chartier, A., Simonelig, M., van Ommen, G. B., van der Maarel, S. M. & Raz, V., 2011, In: Skeletal Muscle. 1, 1, p. 15

    Research output: Contribution to journal › Journal article › Research › peer-review

  98. Published

    Design of Reach: Phase 3 randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in FSHD

    Tawil, R., Han, J., Wang, L., Vissing, John, van Engelen, B., Statland, J., Mellion, M., Shoskes, J., Morabito, C., Jiang, J. & Webster, J., 2022, In: Neuromuscular Disorders. 32, Supplement 1, p. S104-S104 1 p., P.136 .

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  99. Published

    Det komplekse kliniske billede ved arvelige mitokondriesygdomme

    Frederiksen, A. L., Nielsen, M. F., Yderstræde, K. & Vissing, John, 15 Sep 2014, In: Ugeskrift for Laeger. 176, 38, p. 1779-1783 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  100. Published

    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Johnson, K., Bertoli, M., Phillips, L., Töpf, A., Van den Bergh, P., Vissing, J., Witting, N., Nafissi, S., Jamal-Omidi, S., Łusakowska, A., Kostera-Pruszczyk, A., Potulska-Chromik, A., Deconinck, N., Wallgren-Pettersson, C., Strang-Karlsson, S., Colomer, J., Claeys, K. G., De Ridder, W., Baets, J., von der Hagen, M. & 12 others, Fernández-Torrón, R., Zulaica Ijurco, M., Espinal Valencia, J. B., Hahn, A., Durmus, H., Willis, T., Xu, L., Valkanas, E., Mullen, T. E., Lek, M., MacArthur, D. G. & Straub, V., 2018, In: Skeletal Muscle. 8, 12 p., 23.

    Research output: Contribution to journal › Journal article › Research › peer-review

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