Research Output per year
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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Review Article › Scientific › peer-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 journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
Open Access
File
Projects 1985 1985
- 1 Active
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 types › Peer review of manuscripts
Acta Neuropathologica Communications (Journal)
Katarina Pelin (Reviewer)12 Mar 2019
Activity: Publication peer-review and editorial work types › Peer review of manuscripts
Pre-examiner of doctoral thesis
Katarina Pelin (Pre-examiner)1 Mar 2019 → 9 Apr 2019
Activity: Examination types › Pre-examiner of doctoral thesis
PLoS One (Journal)
Katarina Pelin (Reviewer)10 Aug 2018
Activity: Publication peer-review and editorial work types › Peer review of manuscripts
Pre-examiner of doctoral thesis
Katarina Pelin (Pre-examiner)3 Jul 2017 → 10 Aug 2017
Activity: Examination types › Pre-examiner of doctoral thesis