GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Pleiotropic effects of MORC2 derive from its epigenetic signature
2026 F. Peymani, T. Ebihara, D. Smirnov, R. Kopajtich, M. Ando, E. Bertini, R. Carrozzo, D. Diodato, F. Distelmaier, F. Fang, D. Ghezzi, M. Hempel, K. Iwanicka-Pronicka, T. Klopstock, S.L. Stenton, C. Lamperti, Z. Liu, A. Murtazina, Y. Okamoto, Y. Okazaki, D. Piekutowska-Abramczuk, A. Rötig, O. Ryzhkova, C. Schlein, O. Shagina, H. Takashima, P. Tsygankova, M. Zech, T. Meitinger, M. Shimura, K. Murayama, H. Prokisch
Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature
2025 G. Ferrera, G. Segre, E. Lamantea, D. Ghezzi, M. Rivelli, A. Ardissone
A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy
2025 A. Nasca, A. Catania, A. Legati, R. Izzo, C. D'Onofrio, T. Ciavattini, E. Lamantea, C. Lamperti, D. Ghezzi
Intrafamilial Variability in WARS2-Related Disorder: A Family Case
2025 F. Graziola, F.R. Danti, G. Segre, M. Fregonese, R. Izzo, E. Lamentea, D. Ghezzi, A. Ardissone, G. Zorzi
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
2025 F. Bruschi, Y. Vaia, C.E. Antonello, M. Spada, F. Porta, C. Marinaccio, C. Carducci, T. Opladen, J. Sartorelli, F.M. Zibordi, D. Ghezzi, F. Nicita, D. Tonduti
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA
2025 M. Barresi, G. Dal Santo, R. Izzo, A. Zauli, E. Lamantea, L. Caporali, D. Ghezzi, A. Legati
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy
2025 C. Fiorini, N. Jurkute, A. Torraco, C. La Morgia, D. Ghezzi, G. Tioli, L. Rigobello, D. Ormanbekova, A. Berghella, A. Pietro Pasti, F. Palombo, P. Barboni, M. Lucia Cascavilla, F. Sadun, A. De Negri, E. Bertini, O. Musumeci, A. Ardissone, T. Rizza, G. Iarossi, G. Silvestri, S. Rossi, A. Altobelli, A.T. Moore, T. Cullup, A.R. Webster, I. Davagnanam, M. Michaelides, S. Malka, H. Ptackova, H. Stufkova, M. Tesarova, P. Liskova, L. Zeng, T. Klopstock, R. Kopajtich, C. Neuhofer, H. Prokisch, C. Lamperti, A.A. Sadun, P. Yu-Wai-Man, V. Carelli, F. Musiani, L. Iommarini, R. Carrozzo, G. Arno, L. Caporali
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype
2025 P. Lopriore, A. Legati, C.M. Neuhofer, A. Lo Gerfo, R. Kopajtich, M. Barresi, G. Cecchi, M. Pavlov, R. Izzo, V. Montano, M.A. Caligo, R. Berutti, M. Mancuso, H. Prokisch, D. Ghezzi
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature
2025 A. Catania, S. Marchet, K. Einvag, E. Lamantea, E. Salsano, D. Ghezzi, C. Lamperti
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review
2025 M. Magistrati, L. Zupin, E. Lamantea, E. Baruffini, D. Ghezzi, A. Legati, F. Celsi, F.M. Murru, V. Capaci, M. Pinamonti, R. Bussani, M. Carrozzi, C. Dallabona, M. Zeviani, M.T. Bonati
E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development
2025 M. Di Michele, A. Attina, P. Roux, I. Tabet, S. Laguesse, J. Florido, M. Houdeville, A. Choquet, B. Encislai, G. Arena, C. De Blasio, O. Wendling, F. Frenois, L. Papon, L. Stuani, M. Fuentes, C. Jahannault Talignani, M. Rousseau, J. Guégan, Y. Buscail, P. Dupré, H. Michaud, G. Rodier, F. Bellvert, H. Kulyk, C. Ferraro Peyret, H. Mathieu, P. Close, F. Rapino, C. Chaveroux, N. Pirot, L. Rubio, A. Torro, T. Sorg, F. Ango, C. Hirtz, V. Compan, E. Lebigot, A. Legati, D. Ghezzi, L. Nguyen, A. David, C. Sardet, M. Lacroix, L. Le Cam
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
2024 E. Indelicato, S. Boesch, N.E. Mencacci, D. Ghezzi, H. Prokisch, J. Winkelmann, M. Zech
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
2024 A.Y. Sung, R.M. Guerra, L.H. Steenberge, C.L. Alston, K. Murayama, Y. Okazaki, M. Shimura, H. Prokisch, D. Ghezzi, A. Torraco, R. Carrozzo, A. Rotig, R.W. Taylor, J.L. Keck, D.J. Pagliarini
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases
2024 C. Cavestro, F. Morra, A. Legati, M. D'Amato, A. Nasca, A. Iuso, N. Lubarr, J.L. Morrison, P.G. Wheeler, C. Serra-Juhé, B. Rodríguez-Santiago, E. Turón-Viñas, C. Prouteau, M. Barth, S.J. Hayflick, D. Ghezzi, V. Tiranti, I. Di Meo
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
2024 B. Blickhäuser, S.L. Stenton, C.M. Neuhofer, E. Floride, V. Nesbitt, C. Fratter, J. Koch, B. Kauffmann, C. Catarino, L.D. Schlieben, R. Kopajtich, V. Carelli, A.A. Sadun, R. Mcfarland, F. Fang, C. La Morgia, S. Paquay, M.C. Nassogne, D. Ghezzi, C. Lamperti, S. Wortmann, J. Poulton, T. Klopstock, H. Prokisch
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood
2024 G. Ferrera, R. Izzo, D. Ghezzi, L. Nanetti, E. Lamantea, A. Ardissone
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases
2024 S. Figuccia, R. Izzo, A. Legati, A. Nasca, P. Goffrini, D. Ghezzi, C. Ceccatelli Berti
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
2024 D. Sala, S. Marchet, L. Nanetti, A. Legati, C. Mariotti, E. Lamantea, D. Ghezzi, A. Catania, C. Lamperti
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
2024 B. Berti, D. Verrigni, A. Nasca, M. Di Nottia, D. Leone, A. Torraco, T. Rizza, E. Bellacchio, A. Legati, C. Palermo, S. Marchet, C. Lamperti, A. Novelli, E. Maria Mercuri, E. Bertini, M. Pane, D. Ghezzi, R. Carrozzo
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
2024 F. Ebstein, X. Latypova, K.Y. Sharon Hung, M.A. Prado, B. Lee, S. Möller, M. Wendlandt, B.A. Zieba, L. Florenceau, V. Vignard, L. Poirier, B. Toutain, I. Moroni, C. Dubucs, N. Chassaing, J. Horvath, H. Prokisch, S. Küry, S. Bézieau, J.A. Paulo, D. Finley, E. Krüger, D. Ghezzi, B. Isidor