A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Rocha, M. L., Dittmayer, C., Uruha, A., Korinth, D., Chaoui, R., Schlembach, D., Rossi, R., Pelin, K., Suk, E. K., Schmid, S., Goebel, H. H., Schuelke, M., Stenzel, W. & Englert, B., Mar 2021, In: Neuromuscular Disorders. 31, 3, p. 239-245 7 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Sagath, L., Lehtokari, V-L., Välipakka, S., Vihola, A., Gardberg, M., Hackman, P., Pelin, K., Jokela, M., Kiiski, K., Udd, B. & Wallgren-Pettersson, C., Jun 2021, In: Neuromuscular Disorders. 31, 6, p. 539-545 7 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Genetics of the congenital myopathies

Pelin, K., 27 Apr 2021, (Accepted/In press) In: Encyclopedia of life sciences. 2, p. 1-9 9 p.

Research output: Contribution to journal › Review Article › Scientific › peer-review

Nebulin: Size matters for optimal muscle function

Pelin, K., 1 Mar 2021, In: Journal of General Physiology. 153, 3, 3 p., 202012848.

Research output: Contribution to journal › Editorial › Scientific

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In: Acta Neuropathologica Communications. 8, 1, 19 p., 18.

Research output: Contribution to journal › Article › Scientific › peer-review