John Vissing
Clinical Professor
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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
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp, A., Laforet, P., Bello, L., Tasca, G., Vissing, J., Monforte, M., Ricci, E., Choumert, A., Stojkovic, T., Malfatti, E., Pegoraro, E., Semplicini, C., Stramare, R., Scheidegger, O., Haberlova, J., Straub, V., Marini-Bettolo, C., Løkken, N., Diaz-Manera, J., Urtizberea, J. A. & 4 others, , Jan 2020, In: Journal of Neurology. 267, 1, p. 45-56 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Nampt controls skeletal muscle development by maintaining Ca2+ homeostasis and mitochondrial integrity
Basse, A. L., Agerholm, M., Farup, J., Dalbram, E., Nielsen, J., Ørtenblad, N., Altıntaş, A., Ehrlich, A. M., Krag, T., Bruzzone, S., Dall, M., de Guia, R. M., Jensen, J. B., Møller, A. B., Karlsen, A., Kjær, M., Barrès, R., Vissing, J., Larsen, S., Jessen, N. & 1 others, , 2021, In: Molecular Metabolism. 53, 101271.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou, R., Hubert, A., Nelson, I., Dahlqvist, J. R., Gaist, D., Streichenberger, N., Beuvin, M., Krahn, M., Petiot, P., Parisot, F., Michel, F., Malfatti, E., Romero, N., Carlier, R. Y., Eymard, B., Labrune, P., Duno, M., Krag, T., Cerino, M., Bartoli, M. & 4 others, , Dec 2017, In: Neurology: Genetics. 3, 6, 11 p., e208.Research output: Contribution to journal › Journal article › Research › peer-review
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Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy
Berthelsen, M. P., Husu, E., Christensen, S. B., Prahm, K. P., Vissing, John & Jensen, B. R., 2014, In: Neuromuscular Disorders. 24, 6, p. 492-498 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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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
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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
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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
ID: 915367
Most downloads
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246
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Skeletal muscle metabolism during prolonged exercise in Pompe disease
Research output: Contribution to journal › Journal article › Research › peer-review
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226
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Reliability of the 2- and 6-minute walk tests in neuromuscular diseases
Research output: Contribution to journal › Letter › Research › peer-review
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186
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Aerobic Training in Patients with Congenital Myopathy
Research output: Contribution to journal › Journal article › Research › peer-review
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