GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
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
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
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
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 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
Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
2023 A. Legati, D. Ghezzi
Expanding the Spectrum of NUBPL-Related Leukodystrophy
2023 D. Tonduti, A.A. Zambon, D. Ghezzi, E. Lamantea, R. Izzo, C. Parazzini, C. Baldoli, M.S. van der Knaap, F. Fumagalli
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects
2023 M. Baglivo, A. Nasca, E. Lamantea, S. Vinci, M. Spagnolo, S. Marchet, H. Prokisch, A. Catania, C. Lamperti, D. Ghezzi
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
2023 F. Invernizzi, R. Izzo, I. Colangelo, A. Legati, N. Zanetti, B. Garavaglia, E. Lamantea, L. Peverelli, A. Ardissone, I. Moroni, L. Maggi, S. Bonanno, L. Fiori, D. Velardo, F. Magri, G.P. Comi, D. Ronchi, D. Ghezzi, C. Lamperti
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
2023 E.M. Mccormick, K. Keller, J.P. Taylor, A.J. Coffey, L. Shen, D. Krotoski, B. Harding, C.A.P.F. Alves, A. Ardissone, R. Bai, I.P. de Barcelos, E. Bertini, K. Bluske, J. Christodoulou, A.R. Clause, W.C. Copeland, G.A. Diaz, D. Diodato, M.C. Dulik, G. Enns, A. Feigenbaum, C. Fratter, D. Ghezzi, A. Goldstein, A. Gropman, R. Haas, A. Karaa, M.K. Koenig, B. Monteleone, S. Parikh, B.P. Duenas, R. Rajkumar, A. Saada, R.P. Saneto, K. Sergeant, J. Shoffner, C. Smith, C. Stanley, I. Thiffault, D. Thorburn, M. Walker, D. Wallace, L.-. Wong, X. Gai, M.J. Falk, Z. Zolkipli-Cunningham, S. Rahman
Expanding the spectrum of neonatal-onset AIFM1-associated disorders
2023 A.A. Zambon, D. Ghezzi, C. Baldoli, G. Cutillo, K. Fontana, V. Sofia, M.G. Patricelli, A. Nasca, S. Vinci, I. Spiga, E. Lamantea, G.F. Fanelli, M.G.N. Sora, R. Rovelli, A. Poloniato, P. Carrera, M. Filippi, G. Barera
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing
2023 A. Legati, D. Ghezzi, C. Viscomi