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  • PL 56 (Viikinkaari 9)

    00014

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

1985 …2020

Research output per year

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Personal profile

Fields of Science

  • 1184 Genetics, developmental biology, physiology
  • human genetics

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

Publications

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 journalArticleScientificpeer-review

Open Access
File

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

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

Update on the genetics of congenital myopathies

Pelin, K. & Wallgren-Pettersson, C., Apr 2019, In : Seminars in pediatric neurology.. 29, p. 12-22 11 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Open Access
File

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Sagath, L., Lehtokari, V-L., Välipakka, S., Udd, B., Wallgren-Pettersson, C., Pelin, K. & Kiiski, K., 2018, In : Journal of Neuromuscular Diseases. 5, 3, p. 307-314 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Projects

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

Activities

Skeletal Muscle (Journal)

Katarina Pelin (Reviewer)
24 Oct 2019

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

Neuromuscular Disorders (Journal)

Katarina Pelin (Reviewer)
10 Apr 2019

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

Acta Neuropathologica Communications (Journal)

Katarina Pelin (Reviewer)
12 Mar 2019

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

Supervision of doctoral dissertation

Katarina Pelin (Supervisor)
20 Sep 2019

Activity: Examination typesSupervisor or co-supervisor of doctoral thesis

Journal of Neuromuscular Diseases (Journal)

Katarina Pelin (Reviewer)
3 Dec 2019

Activity: Publication peer-review and editorial work typesPeer review of manuscripts