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

Personal profile

Education/Academic qualification

MSc

External positions

Doctoral Candidate, Folkhälsan Research Centre, Folkhälsan Institute of Genetics

Keywords

  • 1184 Genetics, developmental biology, physiology

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

Publications 2017 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

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

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Moreau-Le Lan, S., Aller, E., Calabria, I., Gonzalez-Tarancon, L., Cardona-Gay, C., Martinez-Matilla, M., Aparisi, M. J., Selles, J., Sagath, L., Pitarch, I., Muelas, N., Cervera, J. V., Millan, J. M. & Pedrola, L., 5 Dec 2018, In : PLoS One. 13, 12, 12 p., 0207296.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Copy number variation analysis increases the diagnostic yield in muscle diseases

Välipakka, S., Savarese, M., Johari, M., Sagath, L., Arumilli, M., Kiiski, K., Saenz, A., Lopez de Munain, A., Cobo, A-M., Pelin, K., Udd, B. & Hackman, P., Dec 2017, In : Neurology Genetics. 3, 6, 5 p., 204.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File