John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


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  1. Published

    Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

    Abu Bakar, N., Voermans, N. C., Marquardt, T., Thiel, C., Janssen, M. C. H., Hansikova, H., Crushell, E., Sykut-Cegielska, J., Bowling, F., MØrkrid, L., Vissing, John, Morava, E., van Scherpenzeel, M. & Lefeber, D. J., 2018, In: Translational Research. 199, p. 62-76 15 p.

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

  2. 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

  3. 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

  4. 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

  5. Published

    Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT

    Amato, A. A., Hanna, M. G., Machado, P. M., Badrising, U. A., Chinoy, H., Benveniste, O., Karanam, A. K., Wu, M., Tankó, L. B., Schubert-Tennigkeit, A. A., Papanicolaou, D. A., Lloyd, T. E., Needham, M., Liang, C., Reardon, K. A., de Visser, M., Ascherman, D. P., Barohn, R. J., Dimachkie, M. M., Miller, J. A. L. & 31 others, Kissel, J. T., Oskarsson, B., Joyce, N. C., Van den Bergh, P., Baets, J., De Bleecker, J. L., Karam, C., David, W. S., Mirabella, M., Nations, S. P., Jung, H. H., Pegoraro, E., Maggi, L., Rodolico, C., Filosto, M., Shaibani, A. I., Sivakumar, K., Goyal, N. A., Mori-Yoshimura, M., Yamashita, S., Suzuki, N., Aoki, M., Katsuno, M., Morihata, H., Murata, K., Nodera, H., Nishino, I., Romano, C. D., Williams, V. S. L., Vissing, John & RESILIENT Study Extension Group, R. S. E. G., 2021, In: Neurology. 96, 12, p. e1595-e1607 13 p.

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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Published

    High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial

    Andersen, G., Heje, K., Buch, A. E. & Vissing, John, 2017, In: Journal of Neurology. 264, 6, p. 1099-1106

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

  12. 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

  13. Published

    The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study

    Andersen, G., Hedermann, G., Witting, N., Duno, M., Andersen, H. & Vissing, John, 2017, In: Brain. 140, 9, p. 2295-2305

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

  14. 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

  15. Published

    Eculizumab improves fatigue in refractory generalized myasthenia gravis

    Andersen, H., Mantegazza, R., Wang, J. J., O’Brien, F., Patra, K., Howard, J. F., The REGAIN Study Group, T. R. S. G., Mazia, C. G., Wilken, M., Barroso, F., Vissing, John, Højgaard, J., Witting, N., Autzen, A. O., Pedersen, J., Yang, I., Nye, J. & Vu, H., Mar 2019, In: Quality of Life Research. 28, p. 2247-2254

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

  16. Published

    Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire

    Andersen, L. K. & Vissing, John, 2022, In: Neuromuscular Disorders. 9, 1, p. 161-169 9 p.

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

  17. Published

    Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis

    Andersen, L. K., Aadahl, Mette & Vissing, John, 2021, In: Neuromuscular Disorders. 31, 8, p. 716-725

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

  18. 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

  19. Published

    Two- and 6-minute walk tests assess walking capability equally in neuromuscular diseases

    Andersen, L. K., Knak, K. L., Witting, N. & Vissing, John, 2 Feb 2016, In: Neurology. 86, 5, p. 442-5 4 p.

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

  20. Published

    Effects of rhythmic auditory stimulation on walking during the 6-minute walk test in patients with generalised Myasthenia Gravis

    Andersen, L. K., Witting, N. & Vissing, John, 2022, In: European Journal of Physiotherapy. 24, 6, p. 333-338 6 p.

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

  21. 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

  22. Published

    Effect of changes in fat availability on exercise capacity in McArdle disease

    Andersen, S. T., Jeppesen, T. D., Taivassalo, T., Sveen, M. L., Heinicke, K., Haller, R. G. & Vissing, John, 2009, In: Archives of Neurology. 66, 6, p. 762-766 4 p.

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

  23. Published

    Effect of oral sucrose shortly before exercise on work capacity in McArdle disease

    Andersen, S. T., Haller, R. G. & Vissing, John, 2008, In: Archives of Neurology. 65, 6, p. 786-789 3 p.

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

  24. 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

  25. Published

    Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease—a long-term follow-up

    Andreassen, C. S., Schlütter, J. M., Vissing, John & Andersen, H., 2014, In: Molecular Genetics and Metabolism. 112, 1, p. 40-43 4 p.

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

  26. Published

    Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders.

    Angelini, C., Federico, A., Reichmann, H., Lombes, A., Vianey-Saban, C., Chinnery, P., Turnbull, D. & Vissing, John, 2011, Task force guidelines handbook.: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders.. 2 ed. Blackwell Publishing, Vol. 1. p. 501-511

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

  27. 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

  28. 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

  29. Published

    Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

    Bachmann, C., Franchini, M., Van Den Bersselaar, L. R., Kruijt, N., Voermans, N. C., Bouman, K., Kamsteeg, E. J., Knop, K. C., Ruggiero, L., Santoro, L., Nevo, Y., Wilmshurst, J., Vissing, John, Sinnreich, M., Zorzato, D., Muntoni, F., Jungbluth, H., Zorzato, F. & Treves, S., 2022, In: Brain Communications. 4, 5, fcac224.

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

  30. 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

  31. Published

    Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

    Barington, M., Dunø, M., Birkedal, U., Vissing, John, Born, A. P., Krag, T., Hansen, Thomas van Overeem & Østergaard, Elsebet, 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.

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

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

  33. 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

  34. 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

  35. 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

  36. 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

  37. Published

    Diagnosis and management of metabolic myopathies

    Bhai, S. F. & Vissing, John, 2023, In: Muscle & Nerve. 68, 3, p. 250-256 7 p.

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

  38. 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

  39. Published

    Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy

    Borch, J. D. S., Krag, T., Holm-Yildiz, S. D., Cetin, H., Solheim, T. A., Fornander, F., Straub, V., Duno, M. & Vissing, John, 2022, In: Human Mutation. 43, 9, p. 1234-1238 5 p.

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

  40. Published

    Expanding the phenotype of filamin-C-related myofibrillar myopathy

    Borch, J. D. S., Eisum, A. S. V., Krag, T. & Vissing, John, 2019, In: Clinical Neurology and Neurosurgery. 176, p. 30-33 4 p.

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

  41. 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

  42. 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

  43. Published

    Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial

    MG0002 Investigators, M. I., 9 Feb 2021, In: Neurology. 96, 6, p. e853-e865 14 p.

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

  44. 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

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

  46. Published

    Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)

    Buch, A. E., Musumeci, O., Wigley, R., Stemmerik, M. P. G., Eisum, A. S. V., Madsen, K. L., Preisler, N., Hilton-Jones, D., Quinlivan, R., Toscano, A. & Vissing, John, 2021, In: JIMD Reports. 61, 1, p. 60-66

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

  47. 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

  48. 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

  49. 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

  50. Published

    Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

    Citirak, G., Witting, N., Duno, M., Werlauff, U., Petri, H. & Vissing, John, Apr 2014, In: Neuromuscular Disorders. 24, 4, p. 325-30 6 p.

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

  51. Published

    Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis

    Citirak, G., Cejvanovic, S., Andersen, H. & Vissing, John, 2016, In: PLOS ONE. 11, 10, p. 1-14 14 p., e0164092.

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

  52. 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

  53. Published

    Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults

    Dahlqvist, J. R., Vissing, C. R., Hedermann, G., Thomsen, C. & Vissing, John, 2017, In: Medicine and Science in Sports and Exercise. 49, 3, p. 595-601

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

  54. 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

  55. Published

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

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

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

  56. Published

    Disease progression and outcome measures in spinobulbar muscular atrophy

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

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

  57. Published

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

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

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

  58. Published

    Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy

    Dahlqvist, J. R., Vissing, C. R., Thomsen, C. & Vissing, John, 23 Sep 2014, In: Neurology. 83, 13, p. 1178-1183 6 p.

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

  59. 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

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

  61. 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

  62. 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

  63. Published

    Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders

    Dahlqvist, J. R. & Vissing, John, Mar 2016, In: Journal of Molecular Neuroscience. 58, 3, p. 388-93 6 p.

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

  64. Published

    Endocrine function over time in patients with myotonic dystrophy type 1

    Dahlqvist, J. R., Ørngreen, M. C., Witting, N. & Vissing, John, Jan 2015, In: European Journal of Neurology. 22, 1, p. 116-122 7 p.

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

  65. 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

  66. 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

  67. 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

  68. Published

    High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease

    Duno, M., Quinlivan, R., Vissing, John & Schwartz, M., 2009, In: Annals of Human Genetics. 73, Pt 3, p. 292-297 5 p.

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

  69. Published

    cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark

    Duno, M., Sveen, M. L., Schwartz, M. & Vissing, John, 2008, In: European Journal of Human Genetics. 16, 8, p. 935-940 5 p.

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

  70. Published

    Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

    Dunø, M., Colding-Jørgensen, E., Grunnet, Morten, Jespersen, Thomas, Vissing, John & Schwartz, M., 2004, In: European Journal of Human Genetics. 12, 9, p. 738-43 5 p.

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

  71. 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

  72. 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

  73. Published

    Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

    Fornander, F., Solheim, T. Å., Eisum, A. V., Poulsen, N. S., Andersen, A. G., Dahlqvist, J. R., Dunø, M. & Vissing, John, 2021, In: Frontiers in Neurology. 12, 15 p., 707837.

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

  74. Published

    High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects

    Frederiksen, A. L., Jeppesen, T. D., Vissing, John, Schwartz, M., Kyvik, K. O., Schmitz, O., Poulsen, P. L. & Andersen, P. H., 2009, In: Journal of Clinical Endocrinology and Metabolism. 94, 8, p. 2872-2879 7 p.

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

  75. 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

  76. 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

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

  78. 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

  79. 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

  80. 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

  81. Published

    The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

    Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, John, Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F. & Rugolo, M., 2013, In: Human Molecular Genetics. 22, 11, p. 2141-2151 11 p.

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

  82. 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

  83. Published

    Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy

    Gidaro, T., Gasnier, E., Annoussamy, M., Vissing, John, Attarian, S., Mozaffar, T., Iyadurai, S., Wagner, K. R., Vissiere, D., Walker, G., Shukla, S. S. & Servais, L., 2022, In: Muscle & Nerve. 65, 2, p. 237-242 6 p.

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

  84. Published

    Generalized myasthenia gravis with acetylcholine receptor antibodies: A guidance for treatment

    Gilhus, N. E., Andersen, H., Andersen, L. K., Boldingh, M., Laakso, S., Leopoldsdottir, M. O., Madsen, S., Piehl, F., Popperud, T. H., Punga, A. R., Schirakow, L. & Vissing, John, 2024, In: European Journal of Neurology. 31, 5, e16229.

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

  85. 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

  86. Published

    Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial

    Grunseich, C., Miller, R., Swan, T., Glass, D. J., El Mouelhi, M., Fornaro, M., Petricoul, O., Vostiar, I., Roubenoff, R., Meriggioli, M. N., Kokkinis, A., Guber, R. D., Budron, M. S., Vissing, J., Soraru, G., Mozaffar, T., Ludolph, A., Kissel, J. T., Fischbeck, K. H., Grunseich, C. & 30 others, Miller, R., Swan, T., Glass, D. J., Mouelhi, M. E., Fornaro, M., Petricoul, O., Vostiar, I., Roubenoff, R., Meriggioli, M. N., Dahlqvist, J., Witting, N., Vissing, John, Martinelli, I., Querin, G., Soraru, G., Goyal, N. A., Cash, T. M., Minton, B., Mozaffar, T., Rosenbohm, A., Weiland, U., Weydt, P., Ludolph, A., Chelnick, S., Iyadurai, S., King, W., Kissel, J. T., Budron, M. S., Guber, R. D. & Kokkinis, A., 2018, In: The Lancet Neurology. 17, 12, p. 1043-1052 10 p.

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

  87. 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

  88. 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

  89. Published

    Drilling for energy in mitochondrial disease

    Haller, R. G. & Vissing, John, 2009, In: Archives of Neurology. 66, 8, p. 931-932 1 p.

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

  90. Published

    Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

    Hanna, M. G., Badrising, U. A., Benveniste, O., Lloyd, T. E., Needham, M., Chinoy, H., Aoki, M., Machado, P. M., Liang, C., Reardon, K. A., de Visser, M., Ascherman, D. P., Barohn, R. J., Dimachkie, M. M., Miller, J. A. L., Kissel, J. T., Oskarsson, B., Joyce, N. C., Van den Bergh, P., Baets, J. & 28 others, De Bleecker, J. L., Karam, C., David, W. S., Mirabella, M., Nations, S. P., Jung, H. H., Pegoraro, E., Maggi, L., Rodolico, C., Filosto, M., Shaibani, A. I., Sivakumar, K., Goyal, N. A., Mori-Yoshimura, M., Yamashita, S., Suzuki, N., Katsuno, M., Murata, K., Nodera, H., Nishino, I., Romano, C. D., Williams, V. S. L., Vissing, John, Auberson, L. Z., Wu, M., de Vera, A., Papanicolaou, D. A. & Amato, A. A., 2019, In: The Lancet Neurology. 18, 9, p. 834-844 11 p.

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

  91. Published

    Glycogen storage diseases

    Hannah, W. B., Derks, T. G. J., Drumm, M. L., Grünert, S. C., Kishnani, P. S. & Vissing, John, 2023, In: Nature Reviews Disease Primers. 9, 1, 23 p., 46.

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

  92. Published

    Screening for late-onset Pompe disease in western Denmark

    Hansen, J. S., Pedersen, E. G., Gaist, D., Bach, F. W., Vilholm, O. J., Sandal, B., Weitemeyer, L., Nielsen, K., Schlesinger, F. E., Preisler, N., Vissing, John & Andersen, H., 2018, In: Acta Neurologica Scandinavica. 137, 1, p. 85-90 6 p.

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

  93. 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

  94. 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

  95. 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

  96. 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

  97. 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

  98. 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

  99. 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

  100. Published

    High-intensity training in patients with spinal and bulbar muscular atrophy

    Heje, K., Andersen, G., Buch, A., Andersen, H. & Vissing, John, Jul 2019, In: Journal of Neurology. 266, 7, p. 1693-1697 5 p.

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

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