Browsing by Author Ciolfi, A.
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 2016 | Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy | Flex, E.; Chillemi, Giovanni ; Chandramouli, B.; Carpentieri, G.; Haaxma Ca; Ciolfi, A.; Pizzi, S.; Douglas Gv; Levine, K.; Sferra, A.; Dentici Ml; Niceta, M.; Pfundt Rr; Le Pichon Jb; Farrow, E.; Baas, F.; Piemonte, F.; Dallapiccola, B.; Graham; Saunders Cj; Bertini, E.; Kahn Ra; Cecchetti, S.; Koolen Da; Tartaglia, M.; Thiffault, I.; Au Mg; Capuano, A.; Piermarini, E.; Ivanova Aa; Francis Jw |
| 2021 | Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes | Galosi, S.; Martinelli, S.; Pannone, L.; Terrinoni, A.; Venditti, M.; Pizzi, S.; Ciolfi, A.; Chillemi, Giovanni ; Gigliotti, F.; Cesario, S.; Tartaglia, M.; Leuzzi, V. |