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International and National Collaboration Publications and projects within past five years.

Publications 1996 2019

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Savarese, M., Palmio, J., Poza, J. J., Weinberg, J., Olive, M., Cobo, A. M., Vihola, A., Jonson, P. H., Sarparanta, J., Garcia-Bragado, F., Urtizberea, J. A., Hackman, P. & Udd, B., Jun 2019, In : Annals of Neurology. 85, 6, p. 899-906 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Clinical Reasoning: A 54-year-old man with dyspnea and muscle weakness

Chertcoff, A., Saucedo, M., Bandeo, L., Pantiu, F., Leon Cejas, L., Borsini, E., Reisin, R. & Udd, B., 5 Mar 2019, In : Neurology. 92, 10, p. E1136-E1140 5 p.

Research output: Contribution to journalEditorialScientificpeer-review

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Kiiski, K. J., Lehtokari, V-L., Vihola, A. K., Laitila, J. M., Huovinen, S., Sagath, L. J., Evilä, A. E., Paetau, A. E., Sewry, C. A., Hackman, P. B., Pelin, K. B., Wallgren-Pettersson, C. & Udd, B., Feb 2019, In : Neuromuscular Disorders. 29, 2, p. 97-107 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Palmio, J., Leonard-Louis, S., Sacconi, S., Savarese, M., Penttilä, S., Semmler, A-L., Kress, W., Mozaffar, T., Lai, T., Stojkovic, T., Berardo, A., Reisin, R., Attarian, S., Urtizberea, A., Cobo, A. M., Maggi, L., Kurbatov, S., Nikitin, S., Milisenda, J. C., Fatehi, F. & 5 othersRaimondi, M., Silveira, F., Hackman, P., Claeys, K. G. & Udd, B., Mar 2019, In : Journal of Neurology. 266, 3, p. 680-690 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Olive, M., Engvall, M., Ravenscroft, G., Cabrera-Serrano, M., Jiao, H., Bortolotti, C. A., Pignataro, M., Lambrughi, M., Jiang, H., Forrest, A. R. R., Benseny-Cases, N., Hofbauer, S., Obinger, C., Battistuzzi, G., Bellei, M., Borsari, M., Di Rocco, G., Viola, H. M., Hoo, L. C., Cladera, J. & 24 othersLagerstedt-Robinson, K., Xiang, F., Wredenberg, A., Miralles, F., Jose Baiges, J., Malfatti, E., Romero, N. B., Streichenberger, N., Via, C., Claeys, K. G., Straathof, C. S. M., Goris, A., Freyer, C., Lammens, M., Bassez, G., Kere, J., Clemente, P., Sejersen, T., Udd, B., Vidal, N., Ferrer, I., Edstrom, L., Wedell, A. & Laing, N. G., 27 Mar 2019, In : Nature Communications. 10, 14 p., 1396.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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