John Vissing

John Vissing

Clinical Professor

Member of:

  • Neurology


Publication year:
All
11 - 20 out of 41Page size: 10
  1. 2020
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

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ID: 915367