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Peter Hackman

  • 00790

    Finland

20022020

Research output per year

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Personal profile

Fields of Science

  • 118 Biological sciences

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

Publications

Genotype-phenotype correlations in recessive titinopathies

Savarese, M., Vihola, A., Oates, E. C., Barresi, R., Fiorillo, C., Tasca, G., Jokela, M., Sarkozy, A., Luo, S., Diaz-Manera, J., Ehrstedt, C., Rojas-Garcia, R., Saenz, A., Muelas, N., Lonardo, F., Fodstad, H., Qureshi, T., Johari, M., Välipakka, S., Luque, H. & 21 others, Petiot, P., de Munain, A. L., Pane, M., Mercuri, E., Torella, A., Nigro, V., Astrea, G., Santorelli, F. M., Bruno, C., Kuntzer, T., Illa, I., Vilchez, J. J., Julien, C., Ferreiro, A., Malandrini, A., Zhao, C-B., Casar-Borota, O., Davis, M., Muntoni, F., Hackman, P. & Udd, B., 11 Aug 2020, In : Genetics In medicine. 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Palmio, J., Jonson, P. H., Inoue, M., Sarparanta, J., Bengoechea, R., Savarese, M., Vihola, A., Jokela, M., Nakagawa, M., Noguchi, S., Olivé, M., Masingue, M., Kerty, E., Hackman, P., Weihl, C. C., Nishino, I. & Udd, B., Jan 2020, In : Neuromuscular Disorders. 30, 1, p. 38-46 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Open Access
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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

Open Access
File