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

Publications 2012 2019

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region

Laitila, J., Lehtonen, J., Lehtokari, V-L., Sagath, L., Wallgren-Pettersson, C., Grönholm, M. & Pelin, K., Jan 2019, In : Muscle & Nerve. 59, 1, p. 116-121 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Cullin-3 dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy

Blondelle, J., Tallapaka, K., Seto, J. T., Ghassemian, M., Clark, M., Laitila, J. M., Bournazos, A., Singer, J. D. & Lange, S., 16 May 2019, In : JCI INSIGHT. 4, 10, 19 p., 125665.

Research output: Contribution to journalArticleScientificpeer-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

Open Access
File

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

Le Thanh Lam, Holt, I., Laitila, J., Hanif, M., Pelin, K., Wallgren-Pettersson, C., Sewry, C. A. & Morris, G. E., 24 Oct 2018, In : Scientific Reports. 8, 10 p., 15728.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

Kiiski, K., Lehtokari, V-L., Loytynoja, A., Ahlsten, L., Laitila, J., Wallgren-Pettersson, C. & Pelin, K., Apr 2016, In : European Journal of Human Genetics. 24, 4, p. 574-580 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Projects 1985 1985

Nemaline myopathy and other neuromuscular disorders

Wallgren-Pettersson, C., Pelin, K., Lehtokari, V., Hanif, M., Marttila, M., Kiiski, K. & Laitila, J.

01/01/1985 → …

Project: Research project