Browsing by Author Tartaglia, M.
Showing results 1 to 6 of 6
Issue Date | Title | Author(s) |
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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 |
2019 | Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy | Motta, M.; D'ambrosio, V.; Versacci, P.; Ventriglia, F.; Chillemi, Giovanni ; Pizzuti, A.; Tartaglia, M.; De Luca, A.; Giancotti, A.; Mastromoro, G.; Chandramouli, B.; Pinna, V.; Pantaleoni, F.; Di Giosaffatte, N.; Petrini, S.; Mazza, T. |
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. |
2016 | Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency | Dionisi-vici, C.; Eyal, E.; Kol, N.; Haberman, Y.; Lahad, A.; Diomedi-camassei, F.; Marek-yagel, D.; Rechavi, G.; Tartaglia, M.; Anikster, Y.; Shteyer, E.; Niceta, M.; Rizzo, C.; Pode-shakked, B.; Chillemi, Giovanni ; Bruselles, A.; Semeraro, M.; Barel, O. |
2017 | Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD | Pode-shakked, B.; Niceta, M.; Eyal, E.; Kol, N.; Ben-zeev, B.; Bar-yosef, O.; Marek-yagel, D.; Bertini, E.; Duker Al; Anikster, Y.; Tartaglia, M.; Barash, H.; Raas-rothschild, A.; Ziv, L.; Gripp Kw; Flex, E.; Barel, O.; Carvalho Ks; Scavina, M.; Chillemi, Giovanni |
2016 | SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signaling | Motta, M.; Tartaglia, M.; Chillemi, Giovanni ; Fodale, V.; Cecchetti, S.; Coppola, S.; Stipo, S.; Cordeddu, V.; Macioce, P.; Gelb Bd |