Research output per year
Research output per year
Personal profile
External positions
Co-PI, Administrative leader, Folkhälsan Research Centre, Folkhälsan Institute of Genetics
2012 → …
Fields of Science
- 1184 Genetics, developmental biology, physiology
- human genetics
International and National Collaboration
Publications and projects within past five years.
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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
Lehtokari, V-L., Sagath, L., Davis, M., Ho, D., Kiiski, K., Kettunen, K., Demczko, M., Stein, R., Vatta, M., Winder, T. L., Shohet, A., Orenstein, N., Krcho, P., Bohuš, P., Huovinen, S., Udd, B., Pelin, K., Laing, N. G. & Wallgren-Pettersson, C., Jan 2024, In: Neuromuscular Disorders. 34, p. 32-40 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Lehtonen, J., Sulonen, A-M., Almusa, H., Lehtokari, V-L., Johari, M., Palva, A., Hakonen, A. H., Wartiovaara, K., Lehesjoki, A-E., Udd, B., Wallgren-Pettersson, C., Pelin, K., Savarese, M. & Saarela, J., Dec 2024, In: Scientific Reports. 14, 1, 4306.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Wallgren-Pettersson, C., Jokela, M., Lehtokari, V-L., Tyynismaa, H., Sainio, M. T., Ylikallio, E., Tynninen, O., Pelin, K. & Auranen, M., Feb 2024, In: Neuromuscular Disorders. 35, p. 29-32 4 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Pelin, K., Sagath, L., Lehtonen, J., Kiiski, K., Tynninen, O., Paetau, A., Johari, M., Savarese, M., Wallgren-Pettersson, C. & Lehtokari, V-L., 2023, In: Journal of Neuromuscular Diseases. 10, 5, p. 977-984 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
Sagath, L., Lehtokari, V-L., Wallgren-Pettersson, C., Pelin, K. & Kiiski, K., 2022, In: PLoS One. 17, 5, 12 p., 0267793.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
Projects
- 1 Active
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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
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Acta Neuropathologica (Journal)
Katarina Pelin (Reviewer)
15 Jan 2024Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Genome medicine (Journal)
Katarina Pelin (Reviewer)
29 Jan 2024Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Heliyon (Journal)
Katarina Pelin (Reviewer)
26 Aug 2024Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Neuromuscular Disorders (Journal)
Katarina Pelin (Reviewer)
5 May 2023Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Dominant nebulin myopathy -an update
Katarina Pelin (Speaker)
1 Dec 2023Activity: Talk or presentation types › Oral presentation