Research output per year
Research output per year
Personal profile
Fields of Science
- 3124 Neurology and psychiatry
- Nemaline myopathy, myotubular myopathy, centronuclear myopathy
International and National Collaboration
Publications and projects within past five years.
-
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands
van Kleef, E. S. B., van de Camp, S. A. J. H., Groothuis, J. T., Erasmus, C. E., Gaytant, M. A., Vosse, B. A. H., de Weerd, W., Verschuuren-Bemelmans, C. C., Medici-Van den Herik, E. G., Wallgren-Pettersson, C., Küsters, B., Schouten, M., van Engelen, B. G. M., Ottenheijm, C. A. C., Doorduin, J. & Voermans, N. C., Oct 2024, In: Neuromuscular Disorders. 43, p. 29-38 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
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 -
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle
Laitila, J., Seaborne, R. A. E., Ranu, N., Kolb, J. S., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, JJ., Zanoteli, E., Palmio, J., Huovinen, S., Granzier, H. & Ochala, J., 31 Aug 2024, In: Journal of Physiology. 17 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access -
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
Projects
- 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