John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


Publication year:
All
11 - 20 out of 25Page size: 10
  1. 2018
  2. Published

    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

  3. Published

    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

  4. Published

    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

  5. Published

    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

  6. Published

    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

  7. Published

    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

  8. Published

    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

  9. Published

    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

  10. Published

    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

  11. Published

    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

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ID: 915367