Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Solve-RD consortium, Demidov, G., Yaldiz, B., Garcia-Pelaez, J., Zguro, K., Udd, B., Savarese, M., Johari, M., Hackman, P. & Sagath, L., dec. 2024, I: Npj genomic medicine. 9, 1, 24 s., 49.

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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 andra, 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, I: Annals of Clinical and Translational Neurology. 11, 10, s. 2745-2755 11 s.

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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, I: Communications Biology. 7, 1, 9 s., 438.

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Extension of the DNAJB2a isoform in a dominant neuromyopathy family

Sarparanta, J., Jonson, P. H., Reimann, J., Vihola, A., Luque, H., Penttilä, S., Johari, M., Savarese, M., Hackman, P., Kornblum, C. & Udd, B., 17 okt. 2023, I: Human Molecular Genetics. 32, 21, s. 3029-3039 11 s.

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Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

Lillback, V., Savarese, M., Sandholm, N., Hackman, P. & Udd, B., apr. 2023, I: European Journal of Neurology. 30, 4, s. 1080-1088 9 s.

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