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20182019
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Research Output 2018 2019

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function

Fratta, P., Ornaghi, F., Dati, G., Zambroni, D., Saveri, P., Belin, S., D'Adamo, P., Shy, M., Quattrini, A., Laura Feltri, M. & Wrabetz, L., Jan 1 2019, In : Human Molecular Genetics. 28, 1, p. 124-132 9 p.

Research output: Contribution to journalArticle

PERK inhibition attenuates the abnormalities of the secretory pathway and the increased apoptotic rate induced by SIL1 knockdown in HeLa cells

Capone, V., Clemente, E., Restelli, E., Di Campli, A., Sperduti, S., Ornaghi, F., Pietrangelo, L., Protasi, F., Chiesa, R. & Sallese, M., Oct 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3164-3180 17 p.

Research output: Contribution to journalArticle

PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome

Grande, V., Ornaghi, F., Comerio, L., Restelli, E., Masone, A., Corbelli, A., Tolomeo, D., Capone, V., Axten, J. M., Laping, N. J., Fiordaliso, F., Sallese, M. & Chiesa, R., Jul 15 2018, In : Human Molecular Genetics. 27, 14, p. 2477-2489 13 p.

Research output: Contribution to journalArticle