FIGUCCIA, SONIA

FIGUCCIA, SONIA  

Dipartimento di Scienze degli Alimenti e del Farmaco  

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Titolo Data di pubblicazione Autore(i) File
Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations 1-gen-2021 Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dallabona, Cristina; Okuma, Cecilia; Aiello, Chiara; Goffrini, Paola; Abbink, Truus E. M.; Bertini, Enrico S.; Van der Knaap, Marjo S.
Evidence for a Conserved Function of Eukaryotic Pantothenate Kinases in the Regulation of Mitochondrial Homeostasis and Oxidative Stress 1-gen-2023 CECCATELLI BERTI, Camilla; Gihaz, Shalev; Figuccia, Sonia; Choi, Jae-Yeon; Pal Anasuya, C.; Goffrini, Paola; Ben Mamoun, Choukri
Expanded phenotype of AARS1-related white matter disease. 1-gen-2021 Helman, G; Mendes, Mi; Nicita, F; Darbelli, L; Sherbini, O; Moore, T; Derksen, A; Amy, Pizzino; Carrozzo, R; Torraco, A; Catteruccia, M; Aiello, C; Goffrini, P; Figuccia, S; Smith, Dec; Hadzsiev, K; Hahn, A; Biskup, S; Brösse, I; Kotzaeridou, U; Gauck, D; Grebe, Ta; Elmslie, F; Stals, K; Gupta, R; Bertini, E; Thiffault, I; Taft, Rj; Schiffmann, R; Brandl, U; Haack, Tb; Salomons, Gs; Simons, C; Bernard, G; van der Knaap, Ms; Vanderver, A; Husain, Ra.
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 1-gen-2021 Figuccia, S.; Degiorgi, A.; Ceccatelli Berti, C.; Baruffini, E.; Dallabona, C.; Goffrini, P.
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 1-gen-2020 CECCATELLI BERTI, Camilla; Cappuccio, Gerarda; Baruffini, Enrico; Figuccia, Sonia; Brunetti-Pierri, Nicola; Goffrini, Paola
Yeast as a model for mitochondrial aminoacyl-tRNA synthetase disorders: validation of mutations in NARS2 and WARS2 1-gen-2021 CECCATELLI BERTI, Camilla; Figuccia, Sonia; Legati, Andrea; Nasca, Alessia; Ghezzi, Daniele; Goffrini, Paola
Yeast as a model for searching drugs against pathologies caused by mutations in ACO2 1-gen-2023 Gilea, ALEXANDRU IONUT; Figuccia, Sonia; CECCATELLI BERTI, Camilla; Fiorini, Claudio; Carelli, Valerio; Caporali, Leonardo; Baruffini, Enrico