John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


  1. 2020
  2. 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 journalJournal articleResearchpeer-review

  3. Published

    Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., 29 Oct 2020, In: Human Mutation. 41, 2, p. 403-411 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in late-onset Pompe disease (LOPD)

    Schoser, B., Barohn, R., Byrne, B., Goker-Alpan, O., Kishnani, P., Ladha, S., Laforet, P., Mengel, E., Pena, L., Sacconi, S., Straub, V., Trivedi, J., Van Damme, P., van der Ploeg, A., Vissing, John, Young, P., Haack, K., Ivanina, I., Wang, Y. & Dimachkie, M., Oct 2020, In: Neuromuscular Disorders. 30, p. S49 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  5. 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. & 40 others, Storgaard, J. H., Vissing, John, 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., Hadzsiev, K., Leonardis, L., Koritnik, B., Garibaldi, M., de Leon-Hernández, J. C., Malfatti, E., Fraga-Bau, A., Richard, I., Illa, I. & Díaz-Manera, J., 1 Sep 2020, In: Brain. 143, 9, p. 2696-2708 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 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, John & Quinlivan, R., 1 Sep 2020, In: Neuromuscular Disorders. 30, 9, p. 734-741 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 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 journalJournal articleResearchpeer-review

  8. Published

    Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Storgaard, J. H., Madsen, K. L., Løkken, N., Vissing, John, van Hall, Gerrit, 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

  9. Published

    No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency

    Andersen, A. G., Ørngreen, M. C., Raaschou-pedersen, D. E. T., Borch, J. D. S., Løkken, N., Krag, T. O., Petersen, M. B. & Vissing, John, 1 Apr 2020, In: Neuromuscular Disorders. 30, 4, p. 340-345 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 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. & 4 others, 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

  11. Published

    Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

    Poulsen, N. S., Madsen, K. L., Hornsyld, T. M., Eisum, A. S. V., Fornander, F., Buch, A. E., Stemmerik, M. G., Ruiz-Ruiz, C., Krag, T. O. & Vissing, John, Jan 2020, In: Mitochondrion. 50, p. 35-41

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 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 journalJournal articleResearchpeer-review

  13. 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 journalJournal articleResearchpeer-review

  14. 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 journalJournal articleResearchpeer-review

  15. 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 journalJournal articleResearchpeer-review

  16. 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 journalJournal articleResearchpeer-review

  17. 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 journalJournal articleResearchpeer-review

  18. 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 journalJournal articleResearchpeer-review

  19. 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 journalJournal articleResearchpeer-review

  20. 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 journalJournal articleResearchpeer-review

  21. 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 journalJournal articleResearchpeer-review

  22. 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 journalJournal articleResearchpeer-review

  23. Published

    Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases

    Vissing, John, 2020, In: Current Opinion in Neurology. 33, 5, p. 587-589 3 p.

    Research output: Contribution to journalEditorialResearchpeer-review

  24. Published

    Effect of aerobic exercise training and deconditioning on oxidative capacity and muscle mitochondrial enzyme machinery in young and elderly individuals

    Fritzen, Andreas Mæchel, Andersen, S. P., Qadri, K. A. N., Thøgersen, Frank Dyrehauge, Krag, T., Ørngreen, M. C., Vissing, John & Jeppesen, T. D., 2020, In: Journal of Clinical Medicine. 9, 10, 15 p., 3113.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy

    Dahlqvist, J. R., Poulsen, N. S., Østergaard, S. T., Fornander, F., de Stricker Borch, J., Danielsen, E. R., Thomsen, C. & Vissing, John, 2020, In: Neurology. 95, 9, p. e1211-e1221

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

    Murphy, L. B., Schreiber-Katz, O., Rafferty, K., Robertson, A., Topf, A., Willis, T. A., Heidemann, M., Thiele, S., Bindoff, L., Laurent, J. P., Lochmüller, H., Mathews, K., Mitchell, C., Stevenson, J. H., Vissing, John, Woods, L., Walter, M. C. & Straub, V., 2020, In: Annals of Clinical and Translational Neurology. 7, 5, p. 757-766

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Guidance for the management of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) during the COVID-19 pandemic

    Jacob, S., Muppidi, S., Guidon, A., Guptill, J., Hehir, M., Howard, J. F., Illa, I., Mantegazza, R., Murai, H., Utsugisawa, K., Vissing, John, Wiendl, H. & Nowak, R. J., 2020, In: Journal of the Neurological Sciences. 412, 116803.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Intrarater reliability and validity of outcome measures in myotonic dystrophy type 1

    Knak, K. L., Sheikh, A. M., Andersen, H., Witting, N. & Vissing, John, 2020, In: Neurology. 94, 24, p. e2508-e2520

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Late-onset MADD: A rare cause of cirrhosis and acute liver failure?

    Soldath, Patrick, Lund, A. & Vissing, John, 2020, In: Acta Myologica. 39, 1, p. 19-23 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

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

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

    Research output: Contribution to journalReviewResearchpeer-review

  31. Published

    Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

    Dysgaard, Tina, Duno, M. & Vissing, John, 2020, In: Frontiers in Genetics. 11, 547638.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 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, John, 2020, In: Neurology. 95, 4, p. E342-E352

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Phenotypic spectrum of α-dystroglycanopathies associated with the c.919t>a variant in the FKRP gene in humans and mice

    Brown, S. C., Fernandez-Fuente, M., Muntoni, F. & Vissing, John, 2020, In: Journal of Neuropathology and Experimental Neurology. 79, 12, p. 1257-1264 8 p.

    Research output: Contribution to journalReviewResearchpeer-review

  34. Published

    Physical activity in myotonic dystrophy type 1

    Knak, K. L., Sheikh, A. M., Witting, N. & Vissing, John, 2020, In: Journal of Neurology. 267, p. 1679-1686

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Preclinical research in glycogen storage diseases: A comprehensive review of current animal models

    Almodóvar-Payá, A., Villarreal-Salazar, M., Luna, N. D., Nogales-Gadea, G., Real-Martínez, A., Andreu, A. L., Martín, M. A., Arenas, J., Lucia, A., Vissing, John, Krag, T. & Pinós, T., 2020, In: International Journal of Molecular Sciences. 21, 24, 50 p., 9621.

    Research output: Contribution to journalReviewResearchpeer-review

  36. Published

    Preserved capacity for adaptations in strength and muscle regulatory factors in elderly in response to resistance exercise training and deconditioning

    Fritzen, Andreas Mæchel, Thøgersen, F. D., Qadri, K. A. N., Krag, T., Sveen, M., Vissing, John & Jeppesen, T. D., 2020, In: Journal of Clinical Medicine. 9, 7, 15 p., 2188.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Responsiveness of outcome measures in myotonic dystrophy type 1

    Knak, K. L., Sheikh, A. M., Witting, N. & Vissing, John, 2020, In: Annals of Clinical and Translational Neurology. 7, 8, p. 1382-1391

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

    Madsen, K. L., Buch, A. E., Cohen, B. H., Falk, M. J., Goldsberry, A., Goldstein, A., Karaa, A., Koenig, M. K., Muraresku, C. C., Meyer, C., O'Grady, M., Scaglia, F., Shieh, P. B., Vockley, J., Zolkipli-Cunningham, Z., Haller, R. G. & Vissing, John, 2020, In: Neurology. 94, 7, p. e687-e698

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Stable longitudinal methylation levels at the CpG sites flanking the CTG repeat of DMPK in patients with myotonic dystrophy type 1

    Hildonen, M., Knak, K. L., Dunø, M., Vissing, John & Tümer, Asuman Zeynep, 2020, In: Genes. 11, 8, p. 1-13 13 p., 936.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 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, John, 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 778-786

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Vacuoles, often containing glycogen, are a consistent finding in hypokalemic periodic paralysis

    Holm-Yildiz, S., Krag, T., Witting, N., Duno, M., Soerensen, T. & Vissing, John, 2020, In: Journal of Neuropathology and Experimental Neurology. 79, 10, p. 1127-1129 3 p.

    Research output: Contribution to journalLetterResearchpeer-review

  42. Published

    ‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab

    Vissing, J., Jacob, S., Fujita, K. P., O’Brien, F., Howard, J. F., The REGAIN Study Group, Mazia, C. G., Wilken, M., Barroso, F., Saba, J., Rugiero, M., Bettini, M., Chaves, M., Vidal, G., Garcia, A. D., De Bleecker, J., Van den Abeele, G., de Koning, K., De Mey, K., Mercelis, R. & 36 others, Mahieu, D., Wagemaekers, L., Van Damme, P., Depreitere, A., Schotte, C., Smetcoren, C., Stevens, O., Van Daele, S., Vandenbussche, N., Vanhee, A., Verjans, S., Vynckier, J., D’Hont, A., Tilkin, P., Alves de Siqueira Carvalho, A., Dias Brockhausen, I., Feder, D., Ambrosio, D., César, P., Melo, A. P., Martins Ribeiro, R., Rocha, R., Rosa, B. B., Veiga, T., da Silva, L. A., Andersen, H., Harbo, T., Vinge, L., Krogh, S., Mogensen, A., Vissing, John, Højgaard, J., Witting, N., Autzen, A. M. O., Pedersen, J. & Weiss, M., 2020, In: Journal of Neurology. 267, p. 1991-2001

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 915367