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  • Finland

  • PL 56 (Viikinkaari 9)

    00014

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

1985 …2019
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Personal profile

Keywords

  • 118 Biological sciences
  • 1184 Genetics, developmental biology, physiology
  • human genetics

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

Publications 1997 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

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., 2019, In : Seminars in pediatric neurology.. 29, p. 12-22 11 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

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

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

Lehtokari, V-L., Gardberg, M., Pelin, K. & Wallgren-Pettersson, C., 1 Apr 2018, In : Neuromuscular Disorders. 28, 4, p. 323-326 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

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

Activities 2011 2019

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

Pre-examiner of doctoral thesis

Katarina Pelin (Pre-examiner)
1 Mar 20199 Apr 2019

Activity: Examination typesPre-examiner of doctoral thesis

PLoS One (Journal)

Katarina Pelin (Reviewer)
10 Aug 2018

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

Pre-examiner of doctoral thesis

Katarina Pelin (Pre-examiner)
3 Jul 201710 Aug 2017

Activity: Examination typesPre-examiner of doctoral thesis