John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


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  1. Published

    Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

    Preisler, N., Lukacs, Z., Vinge, L., Madsen, K. L., Husu, E., Wils, Regitze Sølling, Duno, M., Andersen, H., Laub, M. S. H. & Vissing, John, 2013, In: Molecular Genetics and Metabolism. 110, 3, p. 287-289 3 p.

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

  2. Published

    Leber hereditary optic neuropathy due to a new ND1 mutation

    Soldath, P., Wegener, Marianne, Sander, B., Rosenberg, T., Duno, M., Wibrand, F. & Vissing, John, 2017, In: Ophthalmic Genetics. 38, 5, p. 480-485 6 p.

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

  3. Published

    Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10-year Prospective Cohort

    Langdahl, J. H., Larsen, M., Frost, M., Andersen, P. H., Yderstræde, K. B., Vissing, John, Dunø, M., Thomassen, M. & Frederiksen, A. L., 2018, In: Clinical Genetics. 93, 4, p. 925-928 4 p.

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

  4. Published

    Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity

    Krag, T. O., Hauerslev, S., Sveen, M. L., Schwartz, M. & Vissing, John, 2011, In: Skeletal Muscle. 1, 1, p. 31

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

  5. Published

    Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

    Vissing, John, Akman, H. O., Aasly, J., Kahler, S. G., Bacino, C. A., DiMauro, S. & Haller, R. G., 2018, In: Neurology. 91, 11, p. e1077-e1082

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

  6. Published

    Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

    Vissing, John, Oct 2016, In: Current Opinion in Neurology. 29, 5, p. 635-641 7 p.

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

  7. Published

    Limb girdle muscular dystrophy due to mutations in POMT2

    Østergaard, S. T., Johnson, K., Stojkovic, T., Krag, T., De Ridder, W., De Jonghe, P., Baets, J., Claeys, K. G., Fernández-Torrón, R., Phillips, L., Topf, A., Colomer, J., Nafissi, S., Jamal-Omidi, S., Bouchet-Seraphin, C., Leturcq, F., MacArthur, D. G., Lek, M., Xu, L., Nelson, I. & 2 others, Straub, V. & Vissing, John, 2018, In: Journal of neurology, neurosurgery, and psychiatry. 89, 5, p. 506-512

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

  8. Published

    Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

    Wibrand, F., Dysgaard, Tina, Frederiksen, A. L., Olsen, D. H., Dunø, M., Schwartz, M. & Vissing, John, 1 May 2010, In: Muscle & Nerve. 41, 5, p. 607-13 7 p.

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

  9. Published

    Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

    Dimachkie, M. M., Barohn, R. J., Byrne, B., Goker-Alpan, O., Kishnani, P. S., Ladha, S., Laforêt, P., Mengel, K. E., Peña, L. D. M., Sacconi, S., Straub, V., Trivedi, J., Van Damme, P., Van Der Ploeg, A. T., Vissing, J., Young, P., Haack, K. A., Foster, M., Gilbert, J. M., Miossec, P. & 3 others, Vitse, O., Zhou, T. & Schoser, B., 2022, In: Neurology. 99, 5, p. E536-E548

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

  10. Published

    Long-term safety and efficacy of eculizumab in generalized myasthenia gravis

    REGAIN Study Group, R. S. G., Jul 2019, In: Muscle & Nerve. 60, 1, p. 14-24 11 p.

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

  11. 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. & 20 others, Slørdahl, A., Halvorsen, H., Ye, X. C., Zhang, L., 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., Männikkö, R. & Muntoni, F., 2016, In: Brain. 139, 3, p. 674-91 18 p.

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

  12. Published

    Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

    Villarreal-Salazar, M., Santalla, A., Real-Martínez, A., Nogales-Gadea, G., Valenzuela, P. L., Fiuza-Luces, C., Andreu, A. L., Rodríguez-Aguilera, J. C., Martín, M. A., Arenas, J., Vissing, John, Lucia, A., Krag, T. O. & Pinós, T., 2022, In: Molecular Metabolism. 66, 101648.

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

  13. Published

    Low skeletal muscle mass and liver fibrosis in children with cerebral palsy

    Naume, Marie Mostue, Jørgensen, M. H., Høi-Hansen, Christina Engel, Nielsen, M. R., Born, A. P., Vissing, John, Borgwardt, L., Stærk, D. M. R. & Ørngreen, M. C., 2023, In: European Journal of Pediatrics. 182, 11, p. 5047-5055 9 p.

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

  14. Published

    Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

    Real-Martinez, A., Brull, A., Huerta, J., Tarrasó, G., Lucia, A., Martin, M. A., Arenas, J., Andreu, A. L., Nogales-Gadea, G., Vissing, John, Krag, T. O., de Luna, N. & Pinós, T., 2019, In: Scientific Reports. 9, 1, 14 p., 5116.

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

  15. 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, John, 2017, In: Journal of Neurology. 264, 3, p. 438-447

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

  16. 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 journal › Review › Research › peer-review

  17. 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. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. Y., van Engelen, B. G. M., Vissing, John, Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., Jan 2018, In: Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

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

  18. Published

    MYO-MRI diagnostic protocols in genetic myopathies

    Chardon, J. W., Díaz-Manera, J., Tasca, G., Bönnemann, C. G., Gómez-Andrés, D., Heerschap, A., Mercuri, E., Muntoni, F., Pichiecchio, A., Ricci, E., Walter, M. C., Hanna, M., Jungbluth, H., Morrow, J. M., Torrón, R. F., Udd, B., Vissing, J., Yousry, T., Quijano-Roy, S., Straub, V. & 2 others, Carlier, R. Y. & MYO-MRI Working Group, M. W. G., Nov 2019, In: Neuromuscular Disorders. 29, 11, p. 827-841

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

  19. Published

    McArdle disease: a clinical review

    Quinlivan, R., Buckley, J., James, M., Twist, A., Ball, S., Dunø, M., Vissing, John, Bruno, C., Cassandrini, D., Roberts, M., Winer, J., Rose, M. & Sewry, C., 1 Nov 2010, In: Journal of Neurology, Neurosurgery and Psychiatry. 81, 11, p. 1182-8 7 p.

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

  20. Published

    Mechanisms of exertional fatigue in muscle glycogenoses

    Vissing, John & Haller, R. G., 2012, In: Neuromuscular Disorders. 22 Suppl 3, p. S168-71

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

  21. Published

    Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis

    Naume, Marie Mostue, Jørgensen, M. H., Høi-Hansen, Christina Engel, Born, A. P., Vissing, John, Borgwardt, L., Stærk, D. M. R. & Ørngreen, M. C., 2023, In: Acta Paediatrica, International Journal of Paediatrics. 112, 4, p. 846-853

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

  22. Published

    Metabolic myopathies

    Vissing, John, Donato, S. D., Taroni, F., Karpati, G., Hilton-Jones, D., Bushby, K. & Griggs, R. C., 2009, Disorders of Voluntary Muscles.. 8th ed. Cambridge, UK: Cambridge University Press, Vol. 20. p. 390-407 17 p.

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

  23. Published

    Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

    Jeppesen, T. D., Al-Hashimi, N., Duno, M., Wibrand, F., Andersen, G. & Vissing, John, Dec 2017, In: Clinical Case Reports. 5, 12, p. 2034-2039 6 p.

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

  24. Published

    Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study

    Langdahl, J. H., Frederiksen, A. L., Hansen, S. J., Andersen, P. H., Yderstraede, K. B., Dunø, M., Vissing, John & Frost, M., 2017, In: Journal of Bone and Mineral Research. 32, 10, p. 2041-2048

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

  25. Published

    Mitochondrial dysfunction and risk of cancer

    Lund, M., Melbye, M., Diaz, L. J., Dunø, M., Wohlfahrt, J. & Vissing, John, 2015, In: B J C. 112, 6, p. 1134-40 7 p.

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

  26. Published

    Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers

    Langdahl, J. H., Frederiksen, A. L., Vissing, John, Frost, M., Yderstræde, K. B. & Andersen, P. H., 2019, In: Endocrine Connections. 8, 7, p. 829-837

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

  27. Published

    Moderate-intensity aerobic exercise improves physical fitness in bethlem myopathy

    Vissing, C. R., Hedermann, G. & Vissing, John, Aug 2019, In: Muscle & Nerve. 60, 2, p. 183-188 6 p.

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

  28. Published

    Muscle Atrophy Reversed by Growth Factor Activation of Satellite Cells in a Mouse Muscle Atrophy Model

    Hauerslev, S., Vissing, John & Krag, T. O., 2014, In: PLOS ONE. 9, 6, p. 1-12 12 p., e100594.

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

  29. Published

    Muscle MRI in McArdle Disease: A European Multicenter Observational Study

    Løkken, N., Revsbech, K. L., Jacobsen, L. N., Martinuzzi, A., Martin, M. Á., Díaz-Manera, J., Dominguez-Gonzalez, C., Brondani, G., Musumeci, O., Granata, F., Stefan, C., Merino-Sanchez, C., Peralta, C. N., Khawajazada, T., Alonso-Pérez, J., Toscano, A. & Vissing, John, 2022, In: Neurology. 99, 15, p. E1664-E1675

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

  30. Published

    Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Alonso-Jimenez, A., Kroon, R. H. M. J. M., Alejaldre-Monforte, A., Nuñez-Peralta, C., Horlings, C. G. C., van Engelen, B. G. M., Olivé, M., González, L., Verges-Gil, E., Paradas, C., Márquez, C., Garibaldi, M., Gallano, P., Rodriguez, M. J., Gonzalez-Quereda, L., Dominguez Gonzalez, C., Vissing, J., Fornander, F., Eisum, A-S. V., García-Sobrino, T. & 30 others, Pardo, J., García-Figueiras, R., Muelas, N., Vilchez, J. J., Kapetanovic, S., Tasca, G., Monforte, M., Ricci, E., Gomez, M. T., Bevilacqua, J. A., Diaz-Jara, J., Zamorano, I. I., Carlier, R. Y., Laforet, P., Pelayo-Negro, A., Ramos-Fransi, A., Martínez, A., Marini-Bettolo, C., Straub, V., Gutiérrez, G., Stojkovic, T., Martín, M. A., Morís, G., Fernández-Torrón, R., Lopez De Munaín, A., Cortes-Vicente, E., Querol, L., Rojas-García, R., Illa, I. & Diaz-Manera, J., May 2019, In: Journal of neurology, neurosurgery, and psychiatry. 90, 5, p. 576-585 10 p.

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

  31. Published

    Muscle Strength and Aerobic Capacity in Patients with CIDP One Year after Participation in an Exercise Trial

    Markvardsen, L. K., Carstens, A. R., Knak, K. L., Overgaard, K., Vissing, John & Andersen, H., 2019, In: Neuromuscular Disorders. 6, 1, p. 93-97 5 p.

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

  32. Published

    Muscle biopsies off-set normal cellular signaling in surrounding musculature

    Krag, T. O., Hauerslev, S., Dahlqvist, J. R. & Vissing, John, 2013, In: Neuromuscular Disorders. 23, 12, p. 981–985 5 p.

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

  33. Published

    Muscle biopsy and MRI findings in ANO5-related myopathy

    Holm-Yildiz, S., Witting, N., de Stricker Borch, J., Kass, K., Khawajazada, T., Krag, T. & Vissing, John, 2021, In: Muscle and Nerve. 64, 6, p. 743-748 6 p.

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

  34. Published

    Muscle contractility in spinobulbar muscular atrophy

    Dahlqvist, J. R., Oestergaard, S. T., Poulsen, N. S., Knak, K. L., Thomsen, C. & Vissing, John, 2019, In: Scientific Reports. 9, 1, 8 p., 4680.

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

  35. Published

    Muscle contractility of leg muscles in patients with mitochondrial myopathies

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

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

  36. Published

    Muscle fatigue in metabolic myopathies.

    Haller, R. G., Vissing, John, Williams, C. & Ratel, S., 2009, Human Muscle Fatigue: In Sport, Exercise and Health. London: Routledge, Vol. 12. p. 338-359 21 p.

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

  37. 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, John, 12 Dec 2017, In: Neurology. 89, 24, p. 2491-2494 4 p.

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

  38. Published

    Muscle glycogenosis due to phosphoglucomutase 1 deficiency

    Stojkovic, T., Vissing, John, Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J. & Laforêt, P., 2009, In: New England Journal of Medicine. 361, 4, p. 425-7 2 p.

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

  39. Published

    Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

    Tasca, G., D'Amico, A., Monforte, M., Nadaj-Pakleza, A., Vialle, M., Fattori, F., Vissing, John, Ricci, E. & Bertini, E., Nov 2015, In: Neuromuscular Disorders. 25, 11, p. 898-903 6 p.

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

  40. Published

    Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency

    Khawajazada, T., Kass, K., Rudolf, K., de Stricker Borch, J., Sheikh, A. M., Witting, N. & Vissing, John, 2021, In: European Journal of Neurology. 28, 9, p. 3121-3132 12 p.

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

  41. Published

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

    Oestergaard, S. T., Stojkovic, T., Dahlqvist, J. R., Bouchet-Seraphin, C., Nectoux, J., Leturcq, F., Cossée, M., Solé, G., Thomsen, C., Krag, T. O. & Vissing, John, Dec 2016, In: Neurology: Genetics. 2, 6, 7 p., e112.

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

  42. Published

    Muscle phenotype in patients with myotonic dystrophy type 1

    Andersen, G., Orngreen, M. C., Preisler, N., Colding-Jørgensen, E., Clausen, T., Duno, M., Jeppesen, T. D. & Vissing, John, 2013, In: Muscle & Nerve.

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

  43. Published

    Muscle phosphoglycerate mutase deficiency revisited

    Naini, A., Toscano, A., Musumeci, O., Vissing, John, Akman, H. O. & DiMauro, S., 2009, In: Archives of Neurology. 66, 3, p. 394-8 4 p.

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

  44. Published

    Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

    Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H. O., Dimauro, S. & Vissing, John, 2012, In: Neurology. 78, 4, p. 265-8 4 p.

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

  45. Published

    Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

    Hauerslev, S., Ørngreen, M. C., Hertz, J. M., Vissing, John & Krag, T. O., 2013, In: Acta Neurologica Scandinavica. 128, 3, p. 194-201 8 p.

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

  46. Published

    Muscle regeneration in mitochondrial myopathies

    Krag, T. O., Hauerslev, S., Dysgaard, Tina, Duno, M. & Vissing, John, 2013, In: Mitochondrion. 13, 2, p. 63-70 8 p.

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

  47. Published

    Muscle strength in myasthenia gravis

    Cejvanovic, S. & Vissing, John, Jun 2014, In: Acta Neurologica Scandinavica. 129, 6, p. 367-373 7 p.

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

  48. Published

    Muskelsygdomme

    Vissing, John & Sørensen, Per Soelberg, 2010, Klinisk Neurologi og Neurokirurgi. 5 ed. København, p. 623-638

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

  49. 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 journal › Journal article › Research › peer-review

  50. Published

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Böhm, J., Biancalana, V., Dechene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., Poirson, C., Toussaint, A., Greenleaf, R. S., Barger, M. A., Mahoney, L. J., Kang, P. B., Zanoteli, E., Vissing, J. & 48 others, Witting, N., Echaniz-Laguna, A., Wallgren-Pettersson, C., Dowling, J., Merlini, L., Oldfors, A., Bomme Ousager, L., Melki, J., Krause, A., Jern, C., Oliveira, A. S. B., Petit, F., Jacquette, A., Chaussenot, A., Mowat, D., Leheup, B., Cristofano, M., Poza Aldea, J. J., Michel, F., Furby, A., Llona, J. E. B., Van Coster, R., Bertini, E., Urtizberea, J. A., Drouin-Garraud, V., Béroud, C., Prudhon, B., Bedford, M., Mathews, K., Erby, L. A. H., Smith, S. A., Roggenbuck, J., Crowe, C. A., Brennan Spitale, A., Johal, S. C., Amato, A. A., Demmer, L. A., Jonas, J., Darras, B. T., Bird, T. D., Laurino, M., Welt, S. I., Trotter, C., Guicheney, P., Das, S., Mandel, J., Beggs, A. H. & Laporte, J., 2012, In: Human Mutation. 33, 6, p. 949-59 11 p.

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

  51. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Østergaard, Elsebet, Weraarpachai, W., Ravn, K. J. T., Born, A. P., Jønson, L., Dunø, M., Wibrand, F., Shoubridge, E. A. & Vissing, John, Mar 2015, In: Journal of Medical Genetics. 52, 3, p. 203-7 5 p.

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

  52. Published

    Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study

    Petri, H., Ahtarovski, K. A., Vejlstrup, N., Vissing, John, Witting, N., Køber, Lars Valeur & Bundgaard, H., 2014, In: Journal of Cardiovascular Magnetic Resonance. 16, p. 1-10 10 p., 59.

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

  53. Published

    Myoglobinuria

    Vissing, John, Lisak, R. P., Truong, D. D., Carroll, W. & Bhidayasiri, R., 2009, International Neurology: A Clinical Approach. 1st ed. Oxford, UK: Wiley-Blackwell, Vol. 125. p. 477-479 2 p.

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

  54. Published

    Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome

    Crone, C., Christiansen, I. & Vissing, John, 2013, In: Clinical Neurophysiology. 124, 9, p. 1889-1892 4 p.

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

  55. Published

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

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

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

  56. Published

    Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

    Born, A. P., Müller, K., Marquart, Hanne Vibeke Hansen, Heilmann, C., Schejbel, L. & Vissing, John, 1 Feb 2010, In: Neuromuscular Disorders. 20, 2, p. 136-8 3 p.

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

  57. 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 journal › Conference abstract in journal › Research › peer-review

  58. Published

    Natural history of cardiac involvement in myotonic dystrophy type 1 – Emphasis on the need for lifelong follow-up

    Petri, H., Mohammad, B. J. Y., Kristensen, A. T., Thune, J. J., Vissing, John, Køber, Lars Valeur, Witting, N., Bundgård, Henning & Christensen, Alex Hørby, 2024, In: International Journal of Cardiology. 406, 8 p., 132070.

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

  59. 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., Carlier, P. G., Thornton, J. S., Vissing, John, 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 journal › Journal article › Research › peer-review

  60. Published

    Neurologi.

    Waldemar, Gunhild, Boysen, G. M., Høgenhaven, H., Knudsen, G. M., Krarup, Christian, Olesen, Jes, Paulson, O. B., Sørensen, P. S., Vissing, John, Muckadell, O. B. S. D., Haunsø, S. & Vilstrup, H., 2009, Medicinsk Kompendium. 17th ed. København: Nyt Nordisk Forlag Arnold Busck, p. 2418-2623 205 p.

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

  61. Published

    Neuromuskulære sygdomme

    Jakobsen, J. K. & Vissing, John, 2012, Medicin. Lærebog i medicin. Baslund, B., Feldt-Rasmussen, U., Kastrup, J. & Sørensen, P. S. (eds.). p. 1099 18 p.

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  62. 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 journal › Journal article › Research › peer-review

  63. Published

    No effect of bezafibrate in patients with CPTII and VLCAD deficiencies

    Ørngreen, M. C., Vissing, John & Laforét, P., Mar 2015, In: Journal of Inherited Metabolic Disease. 38, 2, p. 373-4 2 p.

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

  64. Published

    No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study

    Løkken, N., Storgaard, J. H., Revsbech, K. L., Voermans, N. C., van Hall, Gerrit, Vissing, John & Ørngreen, M. C., 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 502-516 15 p.

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

  65. 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 journal › Journal article › Research › peer-review

  66. Published

    No effect of resveratrol in patients with mitochondrial myopathy: A cross-over randomized controlled trial

    Løkken, N., Khawajazada, T., Storgaard, J. H., Raaschou-Pedersen, D., Christensen, M. E., Hornsyld, T. M., Krag, T., Ørngreen, M. C. & Vissing, John, 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1186-1198

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

  67. Published

    No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial

    Storgaard, J. H., Løkken, N., Madsen, K. L., Voermans, N. C., Laforêt, P., Nadaj-Pakleza, A., Tard, C., van Hall, Gerrit, Vissing, John & Ørngreen, M. C., 2022, In: Journal of Inherited Metabolic Disease. 45, 3, p. 517-528

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

  68. Published

    No effect of triheptanoin in patients with phosphofructokinase deficiency

    Raaschou-Pedersen, D. E., Madsen, K. L., Lokken, N., Storgaard, J. H., Quinlivan, R., Laforet, P., Lund, Allan Meldgaard, van Hall, Gerrit, Vissing, John & Orngreen, M., Apr 2022, In: Neuromuscular Disorders. 32, 4, p. 295-304 10 p.

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

  69. 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., Ceccaldi, A., Haller, R. G., Quinlivan, R., Mochel, F. & Vissing, John, Oct 2019, In: Annals of Clinical and Translational Neurology. 6, 10, p. 1949-1960 12 p.

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

  70. Published

    No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations1

    Hjermind, L. E., Vissing, John, Asmus, F., Krag, T., Lochmuller, H., Walter, M. C., Erdal, J., Blake, D. J. & Nielsen, J. E., 2008, In: European Journal of Neurology. 15, 5, p. 525-529 4 p.

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

  71. Published

    Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

    Bayat, A., Krett, B., Dunø, M., Torring, P. M. & Vissing, John, 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2251-2257 7 p.

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

  72. Published

    Open-label trial of anti-TNF-alpha in dermato- and polymyositis treated concomitantly with methotrexate

    Hengstman, G. J., Bleecker, J. L. D., Feist, E., Vissing, John, Denton, C. P., Manoussakis, M. N., Slott, J. H., Engelen, B. G. V. & Hoogen, F. H. V. D., 2008, In: European Neurology. 59, 3-4, p. 159-163 4 p.

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

  73. Published

    OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

    Sturm, G., Karan, K. R., Monzel, A. S., Santhanam, B., Taivassalo, T., Bris, C., Ware, S. A., Cross, M., Towheed, A., Higgins-Chen, A., McManus, M. J., Cardenas, A., Lin, J., Epel, E. S., Rahman, S., Vissing, J., Grassi, B., Levine, M., Horvath, S., Haller, R. G. & 9 others, Lenaers, G., Wallace, D. C., St-Onge, M. P., Tavazoie, S., Procaccio, V., Kaufman, B. A., Seifert, E. L., Hirano, M. & Picard, M., 2023, In: Communications Biology . 6, 1, 22 p., 22.

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

  74. Published

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

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

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

  75. Published

    PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

    Voermans, N. C., Preisler, N., Madsen, K. L., Janssen, M. C. H., Kusters, B., Abu Bakar, N., Conte, F., Lamberti, V. M. L., Nusman, F., van Engelen, B. G., van Scherpenzeel, M., Vissing, John & Lefeber, D. J., 2017, In: Neuromuscular Disorders. 27, 4, p. 370-376

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

  76. Published

    Paternal comeback in mitochondrial DNA inheritance

    Vissing, John, 2019, In: Proceedings of the National Academy of Sciences of the United States of America. 116, 5, p. 1475-1476

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

  77. Published

    Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease

    Løkken, N., Voermans, N. C., Andersen, L. K., Karazi, W., Reason, S. L., Zweers, H., Wilms, G., Santalla, A., Susanibar, E., Lucia, A. & Vissing, John, 2023, In: Nutrients. 15, 4, 14 p., 843.

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

  78. Published

    Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement

    Sheikh, A. M., Rudolf, K., de Stricker Borch, J., Khawajazada, T., Witting, N. & Vissing, John, 2021, In: Frontiers in Neurology. 12, 12 p., 613483.

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

  79. 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 journal › Journal article › Research › peer-review

  80. Published

    Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome

    Witting, N. & Vissing, John, Mar 2014, In: Archives of Neurology. 71, 3, p. 350-354 5 p.

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

  81. Published

    Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

    Dysgaard, Tina, Schwartz, M., Colding-Jorgensen, E., Krag, T., Hauerslev, S. & Vissing, John, 2008, In: Neuromuscular Disorders. 18, 4, p. 306-309 3 p.

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

  82. 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., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, John & Behin, A., 2018, In: Acta Neurologica Scandinavica. 137, 5, p. 452-461 10 p.

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

  83. Published

    Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

    Witting, N., Werlauff, U., Duno, M. & Vissing, John, Apr 2017, In: Neurology: Genetics. 3, 2, 15 p., e140.

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

  84. Published

    Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

    Björkman, K., Vissing, John, Østergaard, Elsebet, Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.

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

  85. 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 journal › Review › Research › peer-review

  86. 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 journal › Journal article › Research › peer-review

  87. Published

    Physical training for McArdle disease

    Quinlivan, R., Vissing, John, Hilton-Jones, D. & Buckley, J., 2011, In: Cochrane Database of Systematic Reviews. 12, p. CD007931

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

  88. Published

    Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy

    Løkken, N., Skriver, S. V., Khawajazada, T., Storgaard, J. H. & Vissing, John, 2021, In: Mitochondrion. 60, p. 21-26 6 p.

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

  89. Published

    Polymyositis following autologous haematopoietic stem cell transplantation

    Hedermann, G., Marquart, H. V. & Vissing, John, 2016, In: Scandinavian Journal of Rheumatology. 45, 5, p. 429-31 3 p.

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

  90. Published

    Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

    Villarreal-Salazar, M., Brull, A., Nogales-Gadea, G., Andreu, A. L., Martín, M. A., Arenas, J., Santalla, A., Lucia, A., Vissing, John, Krag, T. O. & Pinós, T., 2022, In: Genes. 13, 1, 74.

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

  91. 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 journal › Review › Research › peer-review

  92. 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 journal › Journal article › Research › peer-review

  93. Published

    Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

    Witting, N., Werlauff, U., Duno, M. & Vissing, John, Mar 2016, In: Muscle & Nerve. 53, 3, p. 388-93 6 p.

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

  94. Published

    Prevalence of migraine in persons with the 3243A>G mutation in mitochondrial DNA

    Guo, S., Esserlind, A., Andersson, Z., Frederiksen, A. L., Olesen, J., Vissing, John & dlt446, dlt446, Jan 2016, In: European Journal of Neurology. 23, 1, p. 175-81 7 p.

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

  95. Published

    Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study

    Petri, H., Sveen, M., Thune, J. J., Vissing, C., Dahlqvist, J. R., Witting, N., Bundgård, Henning, Køber, Lars Valeur & Vissing, John, 1 Mar 2015, In: International Journal of Cardiology. 182, p. 403-11 9 p.

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

  96. Published

    Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies

    Werlauff, U., Hansen, P. D., Witting, N. & Vissing, John, 2021, In: Journal of Neuromuscular Diseases. 8, 4, p. 647-655 9 p.

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

  97. Published

    Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA

    Hedermann, G., Dahlqvist, J. R., Løkken, N., Vissing, C. R., Knak, K. L., Andersen, L. K., Thomsen, C. & Vissing, John, 2018, In: Neuromuscular Disorders. 28, 5, p. 408-413

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

  98. Published

    Prolonged fasting-induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II

    Orngreen, M. C., Andersen, A. G., Eisum, A., Hald, E. J., Raaschou-Pedersen, D. E., Lokken, N., Høi-Hansen, Christina Engel, Vissing, John, Born, A. P. & van Hall, Gerrit, 2021, In: Acta Paediatrica. 110, 12, p. 3367-3375 9 p.

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

  99. Published

    Protein Turnover and Cellular Stress in Mildly and Severely Affected Muscles from Patients with Limb Girdle Muscular Dystrophy Type 2I

    Hauerslev, S., Sveen, M., Vissing, John & Krag, T. O., 2013, In: P L o S One. 8, 6, 7 p., e66929.

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

  100. Published

    Protein-carbohydrate supplements improve muscle protein balance in muscular dystrophy patients after endurance exercise: a placebo-controlled crossover study

    Andersen, G., Ørngreen, M. C., Preisler, N., Jeppesen, T. D., Krag, T. O., Hauerslev, S., van Hall, Gerrit & Vissing, John, 15 Jan 2015, In: American Journal of Physiology: Regulatory, Integrative and Comparative Physiology. 308, 2, p. R123-R130 8 p.

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

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