A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report

Laarne, M., Oghabian, A., Laitila, J., Isohanni, P., Tynninen, O., Zhao, F., Rostedt, F., Sarparanta, J., Sagath, L., Lawlor, M. W., Wallgren-Pettersson, C., Lehtokari, V.-L. & Pelin, K., Sept 2025, In: Journal of neuromuscular diseases. 12, 5, p. 689-698 10 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study

Lehtokari, V. L., Similä, M., Tammepuu, M., Isohanni, P., Auranen, M., Hiekkala, S., Wallgren-Pettersson, C. & Strang-Karlsson, S., 1 Jan 2025, In: Journal of neuromuscular diseases. 12, 1, p. 57-69 13 p.

Research output: Contribution to journal › Article › Scientific › peer-review

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

Hildebrandt, C., Genetti, C. A., Logvinenko, T., Win, W., Barraza-Flores, P., Hayes, L. H., Rockowitz, S., Lehtokari, V.-L., Iannaccone, S. T., Darras, B. T., Topaloglu, H., Wallgren-Pettersson, C. & Beggs, A. H., Aug 2025, In: Neurology Genetics. 11, 4, 13 p., e200277.

Research output: Contribution to journal › Article › Scientific › peer-review

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

Sagath, L., Kiiski, K., Naidu, K., Patel, K., Jonson, P. H., Laarne, M., Djordjevic, D., Yoon, G., LaGroon, A., Rogers, C., Galindo, M. K., Scherer, K., Kunstmann, E., Koparir, E., Ho, D., Davis, M., Joshi, P., Zygmunt, A., Orbach, R. & Donkervoort, S. & 11 others, Bönnemann, C. G., Savarese, M., Echaniz-Laguna, A., Biancalana, V., Genetti, C. A., Iannaccone, S. T., Beggs, A. H., Wallgren-Pettersson, C., Henning, F., Pelin, K. & Lehtokari, V.-L., 14 Jun 2025, In: European Journal of Human Genetics. 10 p.

Research output: Contribution to journal › Review Article › peer-review

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