CALDERAN, CRISTINA
CALDERAN, CRISTINA
Dipartimento di Salute della Donna e del Bambino - SDB
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
2024 Calderan, Cristina; Sorrentino, Ugo; Persano, Luca; Trevisson, Eva; Sartori, Geppo; Salviati, Leonardo; Desbats, Maria Andrea
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function
2018 Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
2021 Mero, S.; Salviati, L.; Leuzzi, V.; Rubegni, A.; Calderan, C.; Nardecchia, F.; Galatolo, D.; Desbats, M. A.; Naef, V.; Gemignani, F.; Novelli, M.; Tessa, A.; Battini, R.; Santorelli, F. M.; Marchese, M.
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
2017 Nasca, A.; Rizza, T.; Doimo, M.; Legati, A.; Ciolfi, A.; Diodato, D.; Calderan, C.; Carrara, G.; Lamantea, E.; Aiello, C.; Di Nottia, M.; Niceta, M.; Lamperti, C.; Ardissone, A.; Bianchi-Marzoli, S.; Iarossi, G.; Bertini, E.; Moroni, I.; Tartaglia, M.; Salviati, L.; Carrozzo, R.; Ghezzi, D.
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency
2021 Baschiera, E.; Sorrentino, U.; Calderan, C.; Desbats, M. A.; Salviati, L.