A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

Claeys, K. G., Savarese, M., Jonson, P. H., Goosens, V., Topf, A., Vihola, A., Straub, V. & Udd, B., Oct 2024, In: Neurology Genetics. 10, 5, 6 p., e200185.

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Töpf, A., Cox, D., Zaharieva, I. T., Di Leo, V., Sarparanta, J., Jonson, P. H., Sealy, I. M., Smolnikov, A., White, R. J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K. M., Venturini, C., Vroling, B., Stenton, S. L., Cummings, B. B., Harris, E., Marini-Bettolo, C., & 65 othersDiaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E. M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A. H., Bodi, I., Bommireddipalli, S., Bönnemann, C. G., Cairns, A., Chiew, M. T., Claeys, K. G., Cooper, S. T., Davis, M. R., Donkervoort, S., Erasmus, C. E., Fassad, M. R., Genetti, C. A., Grosmann, C., Jungbluth, H., Kamsteeg, E. J., Lornage, X., Löscher, W. N., Malfatti, E., Manzur, A., Martí, P., Mongini, T. E., Muelas, N., Nishikawa, A., O’Donnell-Luria, A., Ogonuki, N., O’Grady, G. L., O’Heir, E., Paquay, S., Phadke, R., Pletcher, B. A., Romero, N. B., Schouten, M., Shah, S., Smuts, I., Sznajer, Y., Tasca, G., Taylor, R. W., Tuite, A., Van den Bergh, P., VanNoy, G., Voermans, N. C., Wanschitz, J. V., Wraige, E., Yoshimura, K., Oates, E. C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J. J., MacArthur, D. G., Sarkozy, A., Cordell, H. J., Udd, B., Busch-Nentwich, E. M., Muntoni, F. & Straub, V., Mar 2024, In: Nature Genetics. 56, 3, p. 395-407 13 p.

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CACNA1S Variant Associated with a Myalgic Myopathy Phenotype

Periviita, V., Palmio, J., Jokela, M., Hartikainen, P., Vihola, A., Rauramaa, T. & Udd, B., 31 Oct 2023, In: Neurology. 101, 18, p. E1779-E1786 8 p.

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Extension of the DNAJB2a isoform in a dominant neuromyopathy family

Sarparanta, J., Jonson, P. H., Reimann, J., Vihola, A., Luque, H., Penttilä, S., Johari, M., Savarese, M., Hackman, P., Kornblum, C. & Udd, B., 17 Oct 2023, In: Human Molecular Genetics. 32, 21, p. 3029-3039 11 p.

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HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

Tedesco, B., Vendredy, L., Adriaenssens, E., Cozzi, M., Asselbergh, B., Crippa, V., Cristofani, R., Rusmini, P., Ferrari, V., Casarotto, E., Chierichetti, M., Mina, F., Pramaggiore, P., Galbiati, M., Piccolella, M., Baets, J., Baeke, F., De Rycke, R., Mouly, V., Laurenzi, T., & 7 othersEberini, I., Vihola, A., Udd, B., Weiss, L., Kimonis, V., Timmerman, V. & Poletti, A., 3 Aug 2023, In: Autophagy. 19, 8, p. 2217-2239 23 p.

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