John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


Publication year:
All
1 - 100 out of 353Page size: 100
  1. 2024
  2. 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

  3. 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

  4. 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

  5. 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

  6. 2023
  7. 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

  8. 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, 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

  9. 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

  10. 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

  11. 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

  12. 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, 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

  13. 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

  14. 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, 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

  15. 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

  16. 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

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

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

  18. 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

  19. Published

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

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

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

  20. Published

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

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

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

  21. 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

  22. 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

  23. 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

  24. 2022
  25. 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

  26. 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

  27. 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

  28. 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

  29. 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, Kontrogianni-Konstantopoulos, A., Granzier, H. & Ochala, Julien, 2022, In: Acta Neuropathologica Communications. 10, 185.

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

  30. 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

  31. 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, 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

  32. Published

    Causes of symptom dissatisfaction in patients with generalized myasthenia gravis

    Andersen, L. K., Jakobsson, A. S., Revsbech, K. L. & Vissing, John, 2022, In: Journal of Neurology. 269, p. 3086–3093

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

  33. 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

  34. 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, 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. Published

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

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

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

  41. 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

  42. Published

    Muscle MRI in McArdle Disease: A European Multicenter Observational Study

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

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

  43. 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

  44. Published

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

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

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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 2021
  51. 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

  52. 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

  53. 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

  54. 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, 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

  55. Published

    Nampt controls skeletal muscle development by maintaining Ca2+ homeostasis and mitochondrial integrity

    Basse, A. L., Agerholm, M., Farup, J., Dalbram, E., Nielsen, J., Ørtenblad, N., Altıntaş, A., Ehrlich, A. M., Krag, T., Bruzzone, S., Dall, M., de Guia, R. M., Jensen, J. B., Møller, A. B., Karlsen, A., Kjær, M., Barrès, R., Vissing, J., Larsen, S., Jessen, N. & 1 others, Treebak, Jonas Thue, 2021, In: Molecular Metabolism. 53, 101271.

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

  56. 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

  57. 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

  58. 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

  59. 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. 462-468

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

  60. 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, 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

  61. Published

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

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

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

  62. Published

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

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

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

  63. 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

  64. 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

  65. Published

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

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

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

  66. 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

  67. 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

  68. 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

  69. 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

  70. Published

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

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

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

  71. Published

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

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

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

  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

  77. 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

  78. 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. 483-493

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

  79. 2020
  80. 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

  81. Published

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

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

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

  82. 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

  83. Published

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Alonso-Pérez, J., González-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., Dam, L. T., De Visser, M., van der Kooi, A. J., Garrido, C., Santos, M., Schara, U., Gangfuß, A., Løkken, N. & 40 others, Storgaard, J. H., Vissing, John, Schoser, B., Dekomien, G., Udd, B., Palmio, J., D'Amico, A., Politano, L., Nigro, V., Bruno, C., Panicucci, C., Sarkozy, A., Abdel-Mannan, O., Alonso-Jimenez, A., Claeys, K. G., Gomez-Andrés, D., Munell, F., Costa-Comellas, L., Haberlová, J., Rohlenová, M., Elke, D. V., De Bleecker, J. L., Dominguez-González, C., Tasca, G., Weiss, C., Deconinck, N., Fernández-Torrón, R., López de Munain, A., Camacho-Salas, A., Melegh, B., Hadzsiev, K., Leonardis, L., Koritnik, B., Garibaldi, M., de Leon-Hernández, J. C., Malfatti, E., Fraga-Bau, A., Richard, I., Illa, I. & Díaz-Manera, J., 1 Sep 2020, In: Brain. 143, 9, p. 2696-2708 13 p.

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

  84. 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

  85. 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

  86. 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

  87. 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

  88. Published

    European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

    Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A. & 4 others, Mercuri, E., Kynčl, M., Walter, M. C. & Carlier, R. Y., Jan 2020, In: Journal of Neurology. 267, 1, p. 45-56 12 p.

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

  89. Published

    Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

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

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

  90. Published

    A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

    Echaniz-Laguna, A., Lornage, X., Laforêt, P., Orngreen, M. C., Edelweiss, E., Brochier, G., Bui, M. T., Silva-Rojas, R., Birck, C., Lannes, B., Romero, N. B., Vissing, John, Laporte, J. & Böhm, J., 2020, In: Annals of Neurology. 88, 2, p. 274-282

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

  91. Published

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

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

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

  92. 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

  93. Published

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

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

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

  94. 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

  95. Published

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

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

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

  96. Published

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

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

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

  97. Published

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

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

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

  98. Published

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

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

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

  99. Published

    Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

    Giacomucci, G., Monforte, M., Diaz-Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J. & 3 others, Van Engelen, B., Ricci, E. & Tasca, G., 2020, In: European Journal of Neurology. 27, 12, p. 2604-2615 12 p.

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

  100. 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

  101. 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

  102. 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

  103. Published

    Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy

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

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

  104. Published

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

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

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

  105. Published

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

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

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

Previous 1 2 3 4 Next

ID: 915367