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., 21 May 2025, In: Journal of neuromuscular diseases. 10 p.

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

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Oghabian, A., Jonson, P. H., Gayathri, S. N., Johari, M., Nippala, E., Andres, D. G., Munell, F., Soriano, J. C., Duran, M. A. S., Sinisalo, J., Tolppanen, H., Tolva, J., Hackman, P., Savarese, M. & Udd, B., 1 Mar 2025, In: Skeletal Muscle. 15, 1, 13 p., 5.

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Inferring disease course from differential exon usage in the wide titinopathy spectrum

Di Feo, M. F., Oghabian, A., Nippala, E., Gautel, M., Jungbluth, H., Forzano, F., Malfatti, E., Castiglioni, C., Krey, I., Gomez Andres, D., Brady, A. F., Iascone, M., Cereda, A., Pezzani, L., Natera De Benito, D., Nascimiento Osorio, A., Estévez Arias, B., Kurbatov, S. A., Attie-Bitach, T. & Nampoothiri, S. & 15 others, Ryan, E., Morrow, M., Gorokhova, S., Chabrol, B., Sinisalo, J., Tolppanen, H., Tolva, J., Munell, F., Camacho Soriano, J., Sanchez Duran, M. A., Johari, M., Tajsharghi, H., Hackman, P., Udd, B. & Savarese, M., 2024, In: Annals of Clinical and Translational Neurology. 11, 10, p. 2745-2755 11 p.

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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions

Zhong, H., Sian, V., Johari, M., Katayama, S., Oghabian, A., Jonson, P. H., Hackman, P., Savarese, M. & Udd, B., 2024, In: Communications Biology. 7, 1, 9 p., 438.

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Baseline gene expression in subcutaneous adipose tissue predicts diet-induced weight loss in individuals with obesity

Oghabian, A., van der Kolk, B. W., Marttinen, P., Valsesia, A., Langin, D., Saris, W. H., Astrup, A., Blaak, E. E. & Pietiläinen, K. H., 24 Mar 2023, In: PeerJ. 11, 19 p., e15100.

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