John Vissing
Clinical Professor
- 2024
- Published
Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
Naume, Marie Mostue, Zhao, Q., Haslund-Krog, S. S., Krag, T., Winter, B. C. M. D., Revsbech, K. L., Vissing, John, Holst, H., Møller, Morten Hylander, Hornsyld, T. M., Dunø, M., Høi-Hansen, Christina Engel, Born, A. P., Bo Jensen, P. & Cathrine Ørngreen, M., 2024, In: Neuromuscular Disorders. 34, p. 9-18 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey
Slipsager, A., Andersen, L. K., Voermans, N. C., Lucia, A., Karazi, W., Santalla, A., Vissing, John & Løkken, N., 2024, In: Neuromuscular Disorders. 34, p. 19-26 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- Published
Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy
Skriver, S. V., Krett, B., Poulsen, N. S., Krag, T., Walas, H. R., Christensen, Alex Hørby, Bundgård, Henning, Vissing, John & Vissing, C. R., 2024, In: JACC: Heart Failure. 12, 4, p. 740-753 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022
254th ENMC Workshop Study Group, 2. E. W. S. G., 2023, In: Neuromuscular Disorders. 33, 6, p. 511-522 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Sarkozy, A., Quinlivan, R., Bourke, J. P., Ferlini, A., Barthélémy, I., Cripe, L. H., Reuben, E., Evangelista, T., Florian, A., Gribnau, J., Gonzalez-Quereda, L., Guglieri, M., Niks, E., Phadke, R., Politano, L., Quinlivan, R., Vissing, J., Voermans, N., Vroom, E., Pietrusz, A. & 3 others, , 2023, In: Neuromuscular Disorders. 33, 3, p. 274-284 11 p.Research output: Contribution to journal › Conference article › Research › peer-review
- Published
265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands
Monforte, M., Attarian, S., Vissing, John, Diaz-Manera, J., Tasca, G. & 265th ENMC workshop participants, 2. E. W. P., 2023, In: Neuromuscular Disorders. 33, 1, p. 65-75 11 p.Research output: Contribution to journal › Journal article › Communication
- Published
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations
Sonne, A., Antonovic, A. K., Thomsen, Elise Julie Melhedegaard, Akter, F., Andersen, J. L., Jungbluth, H., Witting, N., Vissing, John, Zanoteli, E., Fornili, A. & Ochala, Julien, 2023, In: Acta Physiologica. 239, 2, 14 p., e14035.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study
Løkken, N., Nielsen, M. R., Stemmerik, M. G., Ellerton, C., Revsbech, K. L., Macrae, M., Slipsager, A., Krett, B., Beha, G. H., Emanuelsson, F., van Hall, Gerrit, Quinlivan, R. & Vissing, John, 2023, In: Clinical Nutrition. 42, 11, p. 2124-2137 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Karazi, W., Scalco, R. S., Stemmerik, M. G., Løkken, N., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Kouwenberg, C. V., Laforêt, P., Millán, B. S., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S., Durmus, H. & 9 others, , 2023, In: Orphanet Journal of Rare Diseases. 18, 9 p., 210.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Efficacy and Safety of Elamipretide in Individuals with Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial
Karaa, A., Bertini, E., Carelli, V., Cohen, B. H., Enns, G. M., Falk, M. J., Goldstein, A., Gorman, G. S., Haas, R., Hirano, M., Klopstock, T., Koenig, M. K., Kornblum, C., Lamperti, C., Lehman, A., Longo, N., Molnar, M. J., Parikh, S., Phan, H., Pitceathly, R. D. S. & 12 others, , 2023, In: Neurology. 101, 3, p. e238-e252Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- Published
Humoral immune response to COVID-19 vaccine in patients with myasthenia gravis
Holm-Yildiz, S., Dysgaard, T., Krag, T., Pedersen, B. S., Hamm, S. R., Pérez-Alós, L., Hansen, C. B., Pries-Heje, M. M., Heftdal, L. D., Hasselbalch, R. B., Fogh, K., Madsen, J. R., Frikke-Schmidt, R., Hilsted, L. M., Sørensen, E., Ostrowski, S. R., Bundgaard, H., Garred, P., Iversen, K., Nielsen, S. D. & 1 others, , 2023, In: Journal of Neuroimmunology. 384, 5 p., 578215.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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. 846-853Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2023, In: Communications Biology . 6, 1, 22 p., 22.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- Published
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo-controlled, double-blind, cross-over study
Løkken, N., Khawajazada, T., Slipsager, A., Voermans, N. C. & Vissing, John, 2023, In: Journal of Inherited Metabolic Disease. 46, 6, p. 1139-1146 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
Global FKRP registry - the research database for limb girdle muscular dystrophy R9 (2I)
Murphy, L., Alfano, L., Brazzo, K., Johnson, N., Laurent, J., Mathews, K., Thiele, S., Vissing, John, Walter, M., Woods, L., Orstavik, K. & Straub, V., Oct 2022, In: Neuromuscular Disorders. 32, Supplement 1, p. S118-S118 1 p., P.175.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
Axial muscle involvement in patients with limb girdle muscular dystrophy type R9
Revsbech, K. L., Rudolf, K., Sheikh, A. M., Khawajazada, T., Borch, J. S., Dahlqvist, J. R., Lokken, N., Witting, N. & Vissing, John, Apr 2022, In: Muscle & Nerve. 65, 4, p. 405-414 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- Published
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Ranu, N., Laitila, J., Dugdale, H. F., Mariano, J., Kolb, J. S., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, J. J., Fiorillo, C., Zanoteli, E., Auranen, M., Jokela, M., Tasca, G., Claeys, K. G., Voermans, N. C., Palmio, J., Huovinen, S., Moggio, M., Beck, T. N. & 3 others, , 2022, In: Acta Neuropathologica Communications. 10, 185.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis
Witting, N., Daugaard, D., Prytz, S., Biernat, H., Diederichsen, Louise C P Raun & Vissing, John, 2022, In: Journal of Neurology. 269, 8, p. 4154-4160 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cardiac Outcomes in Adults With Mitochondrial Diseases
Savvatis, K., Vissing, C. R., Klouvi, L., Florian, A., Rahman, M., Béhin, A., Fayssoil, A., Masingue, M., Stojkovic, T., Bécane, H. M., Berber, N., Mochel, F., Duboc, D., Fontaine, B., Krett, B., Stalens, C., Lejeune, J., Pitceathly, R. D. S., Lopes, L., Saadi, M. & 15 others, , 2022, In: Journal of the American College of Cardiology. 80, 15, p. 1421-1430Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 3086–3093Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Design of Reach: Phase 3 randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in FSHD
Tawil, R., Han, J., Wang, L., Vissing, John, van Engelen, B., Statland, J., Mellion, M., Shoskes, J., Morabito, C., Jiang, J. & Webster, J., 2022, In: Neuromuscular Disorders. 32, Supplement 1, p. S104-S104 1 p., P.136 .Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
Quijano-Roy, S., Haberlova, J., Castiglioni, C., Vissing, J., Munell, F., Rivier, F., Stojkovic, T., Malfatti, E., Gómez García de la Banda, M., Tasca, G., Costa Comellas, L., Benezit, A., Amthor, H., Dabaj, I., Gontijo Camelo, C., Laforêt, P., Rendu, J., Romero, N. B., Cavassa, E., Fattori, F. & 10 others, , 2022, In: Journal of Neurology. 269, p. 2414–2429Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Growth Factors Do Not Improve Muscle Function in Young or Adult mdx Mice
Nielsen, T. L., Hornsyld, T. M., Pinós, T., Brolin, C., Vissing, John & Krag, T. O., 2022, In: Biomedicines. 10, 2, 304.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
Rasmussen, A., Hildonen, M., Vissing, John, Duno, M., Tümer, Asuman Zeynep & Birkedal, U., 2022, In: Genes. 13, 6, 12 p., 970.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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, , 2022, In: Neurology. 99, 5, p. E536-E548Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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-E1675Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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. 517-528Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- 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
- Published
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy
Pedersen, J. J., Duno, M., Wibrand, F., Hammer, C., Krag, T. & Vissing, John, 2022, In: JIMD Reports. 63, 6, p. 540-545 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial
ADAPT Investigator Study Group, A. I. S. G., Jul 2021, In: The Lancet Neurology. 20, 7, p. 526-536 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency
Krett, B., Straub, V. & Vissing, John, 1 Feb 2021, In: European Journal of Neurology. 28, 2, p. 729-731 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
Laforêt, P., Oldfors, A., Malfatti, E., Vissing, J., Colle, M. A., Duran, J., Gentry, M., Guinovart, J., Hurley, T., Kakhlon, O., Krag, T., Landy, H., Lilleør, C. B., Minassian, B., Mingozzi, F., Murphy, E., Piercy, R., Piraud, M., Ramanan, V., Stemmerik, M. & 3 others, , 2021, In: Neuromuscular Disorders. 31, 5, p. 466-477 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2021, In: Molecular Metabolism. 53, 101271.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Antimyostatin treatment in health and disease: The story of great expectations and limited success
Nielsen, T. L., Vissing, John & Krag, T. O., 2021, In: Cells. 10, 3, 31 p., 533.Research output: Contribution to journal › Review › Research › peer-review
- Published
Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
Krag, T. O., Holm-Yildiz, S., Witting, N. & Vissing, John, 2021, In: Acta Neuropathologica Communications. 9, 16 p., 109.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
Solheim, T. Å., Fornander, F., Raja, A. A., Møgelvang, R., Poulsen, N. S., Dunø, M., Bundgård, Henning & Vissing, John, 2021, In: Frontiers in Neurology. 12, 10 p., 707838.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children
Høi-Hansen, Christina Engel, Tygesen, M. L. B., Dunø, M., Vissing, John, Ballegaard, Martin & Born, P., 2021, In: Neuropediatrics. 52, 6, p. 462-468Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab: subgroup analysis of REGAIN and its extension study
Siddiqi, Z. A., Nowak, R. J., Mozaffar, T., O'Brien, F., Yountz, M., Patti, F., Mazia, C. G., Wilken, M., 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. & 31 others, , 2021, In: Muscle and Nerve. 64, 6, p. 662-669 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2021, In: Neurology. 96, 12, p. e1595-e1607 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 60-66Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Exercise testing, physical training and fatigue in patients with mitochondrial myopathy related to mtdna mutations
Jeppesen, T. D., Madsen, K. L., Poulsen, N. S., Løkken, N. & Vissing, John, 2021, In: Journal of Clinical Medicine. 10, 8, 1796.Research output: Contribution to journal › Review › Research › peer-review
- Published
Extreme hypoxia causing brady-arrythmias during apnea in elite breath-hold divers
Kjeld, T., Isbrand, A. B., Linnet, K., Zerahn, B., Højberg, J., Hansen, E. G., Gormsen, L. C., Bejder, Jacob, Krag, T., Vissing, John, Bøtker, H. E. & Arendrup, H. C., 2021, In: Frontiers in Physiology. 12, 12 p., 712573.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 716-725Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease: an MRI study
Vaeggemose, M., Mencagli, R. A., Hansen, J. S., Dräger, B., Ringgaard, S., Vissing, John & Andersen, H., 2021, In: PeerJ. 9, p. 1-19 e10928.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era
Walter, M. C., Chiriboga, C., Duong, T., Goemans, N., Mayhew, A., Ouillade, L., Oskoui, M., Quinlivan, R., Vázquez-Costa, J. F., Vissing, John & Servais, L., 2021, In: Journal of Neuromuscular Diseases. 8, 4, p. 543-551 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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. 1101-1106Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 1186-1198Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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
- 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
- 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
- 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
- Published
Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy — A 1-Year Follow-Up Study
Sheikh, A. M., Rudolf, K., Witting, N. & Vissing, John, 2021, In: Frontiers in Neurology. 11, 6 p., 613489.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Zilucoplan: An Investigational Complement C5 Inhibitor for the Treatment of Acetylcholine Receptor Autoantibody–Positive Generalized Myasthenia Gravis
Howard, J. F., Vissing, John, Gilhus, N. E., Leite, M. I., Utsugisawa, K., Duda, P. W., Farzaneh-Far, R., Murai, H. & Wiendl, H., 2021, In: Expert Opinion on Investigational Drugs. 30, 5, p. 483-493Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- 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
- 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, , 29 Oct 2020, In: Human Mutation. 41, 2, p. 403-411 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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, , 1 Sep 2020, In: Brain. 143, 9, p. 2696-2708 13 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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 journal › Journal article › Research › peer-review
- 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
- 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 journal › Journal article › Research › peer-review
- 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
- 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, , Jan 2020, In: Journal of Neurology. 267, 1, p. 45-56 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 35-41Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 274-282Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 1507-1513Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Absence of p.R50X Pygm read-through in McArdle disease cellular models
Tarrasó, G., Real-Martinez, A., Parés, M., Romero-Cortadellas, L., Puigros, L., Moya, L., Luna, N., Brull, A., Martín, M. A., Arenas, J., Lucia, A., Andreu, A. L., Barquinero, J., Vissing, John, Krag, T. O. & Pinós, T., 2020, In: Disease Models & Mechanisms. 13, 12 p., dmm043281.Research output: Contribution to journal › Journal article › Research › peer-review
- 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-e1102Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Age-associated salivary microRNA biomarkers for oculopharyngeal muscular dystrophy
Raz, V., Kroon, R. H. M. J. M., Mei, H., Riaz, M., Buermans, H., Lassche, S., Horlings, C., De Swart, B., Kalf, J., Harish, P., Vissing, John, Kielbasa, S. & van Engelen, B. G. M., 2020, In: International Journal of Molecular Sciences . 21, 17, p. 1-15 15 p., 6059.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2020, In: JAMA Network Open. 3, 10, 13 p., e2020836.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 2432-2442Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 187.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2020, In: European Journal of Neurology. 27, 12, p. 2604-2615 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance
Leermakers, P. A., Dybdahl, K. L. T., Husted, K. S., Riisager, A., de Paoli, F. V., Pinós, T., Vissing, John, Krag, T. O. B. & Pedersen, T. H., 2020, In: Frontiers in Neurology. 11, 541.Research output: Contribution to journal › Journal article › Research › peer-review
- 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 journal › Editorial › Research › peer-review
- 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
- 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-e1221Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 757-766Research output: Contribution to journal › Journal article › Research › peer-review
ID: 915367
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Skeletal muscle metabolism during prolonged exercise in Pompe disease
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Reliability of the 2- and 6-minute walk tests in neuromuscular diseases
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Aerobic Training in Patients with Congenital Myopathy
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