John Vissing

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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, Saneto, R., Scaglia, F., Servidei, S., Tarnopolsky, M., Toscano, A., Van Hove, J. L. K., Vissing, John, Vockley, J., Finman, J. S., Brown, D. A., Shiffer, J. A. & Mancuso, M., 2023, In: Neurology. 101, 3, p. e238-e252

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

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

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

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, Vissing, John, 2023, In: Journal of Neuroimmunology. 384, 5 p., 578215.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Cardiac Outcomes in Adults With Mitochondrial Diseases

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

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

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

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

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, Beroud, C., Zídková, J., Leboucq, N., Løkken, N., Sanchez-Montañez, Á., Ortega, X., Kynčl, M., Metay, C., Gómez-Andrés, D. & Carlier, R. Y., 2022, In: Journal of Neurology. 269, p. 2414–2429

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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, Mercelis, R., Mahieu, D., Wagemaekers, L., Van Damme, P., Depreitere, A., Schotte, C., Smetcoren, C., Stevens, O., Van Daele, S., Vandenbussche, N., Vanhee, A., Verjans, S., Vynckier, J., D'Hont, A., Tilkin, P., de Siqueira Carvalho, A. A., Brockhausen, I. D., Feder, D., Ambrosio, D., César, P., Melo, A. P., Ribeiro, R. M., Rocha, R., Rosa, B. B., Andersen, H., Vissing, John, Højgaard, J., Witting, N., Pedersen, J., Weiss, M. & The REGAIN Study Group, T. R. S. G., 2021, In: Muscle and Nerve. 64, 6, p. 662-669 8 p.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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. 483-493

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

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

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

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

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

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

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

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

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

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

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

Salim, R., Dahlqvist, J. R., Khawajazada, T., Kass, K., Revsbech, K. L., de Stricker Borch, J., Munawar Sheikh, A. & Vissing, John, 2020, In: Journal of Neurology. 267, 8, p. 2432-2442

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

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

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

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

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforêt, P., San-Millán, B., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B. & 7 others, Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, John & EUROMAC Consortium, E. C., 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Responsiveness of outcome measures in myotonic dystrophy type 1

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

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

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

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

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

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

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

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

Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study

Løkken, N., Hansen, K. K., Storgaard, J. H., Ørngreen, M. C., Quinlivan, R. & Vissing, John, 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 778-786

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

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

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

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

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

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

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

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

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

Vissing, John, Johnson, K., Töpf, A., Nafissi, S., Díaz-Manera, J., French, V. M., Schindler, R. F., Sarathchandra, P., Løkken, N., Rinné, S., Freund, M., Decher, N., Müller, T., Duno, M., Krag, T., Brand, T. & Straub, V., Dec 2019, In: Annals of Neurology. 86, 6, p. 832-843 12 p.

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

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

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

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

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

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

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

Congenital myopathies are mainly associated with a mild cardiac phenotype

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

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

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

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

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

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

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency

Madsen, K. L., Preisler, N., Buch, A. E., Stemmerik, M. G., Laforêt, P. & Vissing, John, Mar 2019, In: JIMD Reports. 46, 1, p. 79-84 6 p.

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

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

Vaeth, S., Christensen, R., Dunø, M., Lildballe, D. L., Thorsen, K., Vissing, John, Svenstrup, K., Hertz, J. M., Andersen, H. & Jensen, U. B., Jan 2019, In: European Journal of Medical Genetics. 62, 1, p. 1-8 8 p.

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

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

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

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

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

Exercise therapy for muscle and lower motor neuron diseases

Sheikh, A. M. & Vissing, John, 2019, In: Acta Myologica. 38, 4, p. 215-232

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

Exercise training in multifocal motor neuropathy: a case report study

Markvardsen, L. K., Overgaard, K., Vissing, John & Andersen, H., 2019, In: Clinical Case Reports and Reviews. 5, p. 1-4

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

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

Fat oxidation is impaired during exercise in lipin-1 deficiency

Raaschou-Pedersen, D., Madsen, K. L., Stemmerik, M. G., Eisum, A. V., Straub, V. & Vissing, John, 2019, In: Neurology. 93, 15, p. e1433-e1438

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

Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati

Hoei-Hansen, C. E., Scheie, David, Lund, Eva Løbner, Kondziella, Daniel, Vissing, John & Christiansen, I., 2019, In: Ugeskrift for Laeger. 181, 24, 2 p., V01190070.

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

Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

Vissing, C. R., Dunø, M., Wibrand, F., Christensen, M. & Vissing, John, 2019, In: The Journal of clinical endocrinology and metabolism. 104, 12, p. 5968-5976

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

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

Madsen, K. L., Stemmerik, M. G., Buch, A. E., Poulsen, N. S., Lund, A. M. & Vissing, John, 2019, In: The Journal of clinical endocrinology and metabolism. 104, 9, p. 3610-3613

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

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Ross, J. A., Levy, Y., Ripolone, M., Kolb, J. S., Turmaine, M., Holt, M., Lindqvist, J., Claeys, K. G., Weis, J., Monforte, M., Tasca, G., Moggio, M., Figeac, N., Zammit, P. S., Jungbluth, H., Fiorillo, C., Vissing, J., Witting, N., Granzier, H., Zanoteli, E. & 3 others, Hardeman, E. C., Wallgren-Pettersson, C. & Ochala, Julien, 2019, In: Acta Neuropathologica. 138, 3, p. 477-495 19 p.

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

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

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

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

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

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

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

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

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

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study

NEO1 Investigator Group, N. I. G., 2019, In: Neuromuscular Disorders. 29, 3, p. 167-186

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

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Sloth, C. K., Denti, F., Schmitt, Nicole, Bentzen, Bo Hjorth, Fagerberg, C., Vissing, John & Gaist, D., Oct 2018, In: Neurology: Genetics. 4, 5, p. e267 3 p.

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

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

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

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

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

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

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

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

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

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

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

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

Altered somatosensory neurovascular response in patients with Becker muscular dystrophy

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

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

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

Witting, N., Krag, T., Werlauff, U., Duno, M., Oestergaard, S. T., Dahlqvist, J. R. & Vissing, John, 2018, In: Muscle & Nerve. 57, 6, p. 1026-1030

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

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

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

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

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

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

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

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

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

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

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

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse

Nielsen, T. L., Pinós, T., Brull, A., Vissing, John & Krag, T. O., 2018, In: Molecular Genetics and Metabolism. 123, 1, p. 21-27

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

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

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

Madsen, K. L., Preisler, N., Rasmussen, J., Hedermann, G., Olesen, J. H., Lund, A. M. & Vissing, John, 2018, In: The Journal of clinical endocrinology and metabolism. 103, 12, p. 4580-4588

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

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

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

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

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

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

Remodel mitochondria and get energized

Vissing, John & Angelini, C., 2018, In: Neurology. 90, 14, p. 633-634

Research output: Contribution to journal › Editorial › Research

Resistance training and aerobic training improve muscle strength and aerobic capacity in chronic inflammatory demyelinating polyneuropathy

Markvardsen, L. H., Overgaard, K., Heje, K., Sindrup, S. H., Christiansen, I., Vissing, John & Andersen, H., 2018, In: Muscle & Nerve. 57, 1, p. 70-76

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