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Anna Naukkarinen

  • Finland

20012020

Research output per year

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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

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Topf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bonnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., Feb 2020, In : Human Mutation. 41, 2, p. 403-411 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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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Jokela, M., Lehtinen, S., Palmio, J., Saukkonen, A-M., Huovinen, S., Vihola, A. & Udd, B., Jul 2019, In : Journal of Neurology. 266, 7, p. 1649-1654 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File