Research output per year
Research output per year
International and National Collaboration
Publications and projects within past five years.
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Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients
Baban, A., Cicenia, M., Magliozzi, M., Parlapiano, G., Cirillo, M., Pascolini, G., Fattori, F., Gnazzo, M., Bruno, P., De Luca, L., Di Chiara, L., Francalanci, P., Udd, B., Secinaro, A., Amodeo, A., Bertini, E. S., Savarese, M., Drago, F. & Novelli, A., 27 Jul 2023, In: Frontiers in cardiovascular medicine. 10, 13 p., 1210378.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking
Swan, A. H., Schindler, R. F. R., Savarese, M., Mayer, I., Rinne, S., Bleser, F., Schaenzer, A., Hahn, A., Sabatelli, M., Perna, F., Chapman, K., Pfuhl, M., Spivey, A. C., Decher, N., Udd, B., Tasca, G. & Brand, T., 9 Jan 2023, In: Acta Neuropathologica Communications. 11, 1, 25 p., 4.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access -
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, In: European Journal of Neurology. 30, 4, p. 1080-1088 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
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The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Di Feo, M. F., Lillback, V., Jokela, M., McEntagart, M., Homfray, T., Giorgio, E., Cavalchini, G. C. C., Brusco, A., Iascone, M., Spaccini, L., D'Oria, P., Savarese, M. & Udd, B., 2023, In: Journal of Medical Genetics. 60, 9, p. 866–873 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
Johari, M., Papadimas, G., Papadopoulos, C., Xirou, S., Kanavaki, A., Chrysanthou-Piterou, M., Rusanen, S., Savarese, M., Hackman, P. & Udd, B., Oct 2022, In: Annals of Clinical and Translational Neurology. 9, 10, p. 1660-1667 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
Projects
- 1 Active
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Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)
Johari, M., Hackman, P., Udd, B. & Savarese, M.
Päivikki ja Sakari Sohlbergin Säätiö
01/10/2014 → …
Project: Research project