20122019
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International and National Collaboration Publications and projects within past five years.

Publications 2012 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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Savarese, M., Maggi, L., Vihola, A., Jonson, P. H., Tasca, G., Ruggiero, L., Bello, L., Magri, F., Giugliano, T., Torella, A., Evilä, A., Di Fruscio, G., Vanakker, O., Gibertini, S., Vercelli, L., Ruggieri, A., Antozzi, C., Luque, H., Janssens, S., Pasanisi, M. B. & 21 othersFiorillo, C., Raimondi, M., Ergoli, M., Politano, L., Bruno, C., Rubegni, A., Pane, M., Santorelli, F. M., Minetti, C., Angelini, C., De Bleecker, J., Moggio, M., Mongini, T., Comi, G. P., Santoro, L., Mercuri, E., Pegoraro, E., Mora, M., Hackman, P., Udd, B. & Nigro, V., May 2018, In : JAMA neurology. 75, 5, p. 557-565 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evila, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J. -F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Sole, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I. & 1 othersUdd, B., May 2018, In : European Journal of Neurology. 25, 5, p. 790-794 5 p.

Research output: Contribution to journalArticleScientificpeer-review

The complexity of titin splicing pattern in human adult skeletal muscles

Savarese, M., Jonson, P. H., Huovinen, S., Paulin, L., Auvinen, P., Udd, B. & Hackman, P., 29 Mar 2018, In : Skeletal Muscle. 8, 9 p., 11.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Lee, Y., Jonson, P. H., Sarparanta, J., Palmio, J., Sarkar, M., Vihola, A., Evilä, A., Suominen, T., Penttila, S., Savarese, M., Johari, M., Minot, M-C., Hilton-Jones, D., Maddison, P., Chinnery, P., Reimann, J., Kornblum, C., Kraya, T., Zierz, S., Sue, C. & 8 othersGoebel, H., Azfer, A., Ralston, S. H., Hackman, P., Bucelli, R. C., Taylor, J. P., Weihl, C. C. & Udd, B., 1 Mar 2018, In : Journal of Clinical Investigation. 128, 3, p. 1164-1177 14 p.

Research output: Contribution to journalArticleScientificpeer-review