John Vissing
Clinical Professor
21 - 25 out of 25Page size: 10
- 2022
- Published
Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features
Bayat, A., Krett, B., Dunø, M., Torring, P. M. & Vissing, John, 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2251-2257 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
Villarreal-Salazar, M., Brull, A., Nogales-Gadea, G., Andreu, A. L., Martín, M. A., Arenas, J., Santalla, A., Lucia, A., Vissing, John, Krag, T. O. & Pinós, T., 2022, In: Genes. 13, 1, 74.Research output: Contribution to journal › Review › Research › peer-review
- Published
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
Bachmann, C., Franchini, M., Van Den Bersselaar, L. R., Kruijt, N., Voermans, N. C., Bouman, K., Kamsteeg, E. J., Knop, K. C., Ruggiero, L., Santoro, L., Nevo, Y., Wilmshurst, J., Vissing, John, Sinnreich, M., Zorzato, D., Muntoni, F., Jungbluth, H., Zorzato, F. & Treves, S., 2022, In: Brain Communications. 4, 5, fcac224.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy
Borch, J. D. S., Krag, T., Holm-Yildiz, S. D., Cetin, H., Solheim, T. A., Fornander, F., Straub, V., Duno, M. & Vissing, John, 2022, In: Human Mutation. 43, 9, p. 1234-1238 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy
Pedersen, J. J., Duno, M., Wibrand, F., Hammer, C., Krag, T. & Vissing, John, 2022, In: JIMD Reports. 63, 6, p. 540-545 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 915367
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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
downloads
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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