1985 …2019
If you made any changes in Pure these will be visible here soon.

Personal profile

Keywords

  • 3124 Neurology and psychiatry
  • Nemaline myopathy, myotubular myopathy, centronuclear myopathy

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

Publications 1999 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

Pregnancy and Delivery in Women With Congenital Myopathies

Rudnik-Schoeneborn, S. & Wallgren-Pettersson, C., Apr 2019, In : Seminars in pediatric neurology.. 29, p. 23-29 7 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

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

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