GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
2023 C. Frascarelli, N. Zanetti, A. Nasca, R. Izzo, C. Lamperti, E. Lamantea, A. Legati, D. Ghezzi
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
Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
2023 A. Legati, D. Ghezzi
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients
2023 A. Ardissone, G. Ferrera, C. Lamperti, V. Tiranti, D. Ghezzi, I. Moroni, E. Lamantea
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
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients
2023 A. Di Donfrancesco, C. Berlingieri, M. Giacomello, C. Frascarelli, A.P. Magalhaes Rebelo, L.A. Bindoff, S. Reeval, P. Renbaum, F.M. Santorelli, G. Massaro, C. Viscomi, M. Zeviani, D. Ghezzi, E. Bottani, D. Brunetti
Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
2023 A. Accogli, S. Lin, M. Severino, S. Kim, K. Huang, C. Rocca, M. Landsverk, M. Zaki, A. Al-Maawali, V.M. Srinivasan, K. Al-Thihli, G.B. Schaefer, M. Davis, D. Tonduti, C. Doneda, L.M. Marten, C. Mühlhausen, M. Gomez, E. Lamantea, R. Mena, M. Nizon, V. Procaccio, A. Begtrup, A. Telegrafi, H. Cui, H.L. Schulz, J. Mohr, S. Biskup, M.A. Loos, H.V. Aráoz, V. Salpietro, L.D. Keppen, M. Chitre, C. Petree, L. Raymond, J. Vogt, L.B. Swayer, A.A. Basinger, S.V. Pedersen, T.S. Pearson, D.K. Grange, L. Lingapp, P. Mcdunnah, R. Horvath, B. Cogne, B. Isidor, A. Hahn, K. Gripp, S.M. Jafarnejad, E. Ostergaard, C.E. Prada, D. Ghezzi, V.K. Gowda, R.W. Taylor, N. Sonenberg, H. Houlden, M. Sissler, G.K. Varshney, R. Maroofian
Variants in ATP5F1B are associated with dominantly inherited dystonia
2023 A. Nasca, N.E. Mencacci, F. Invernizzi, M. Zech, I.J. Keller Sarmiento, A. Legati, C. Frascarelli, B.I. Bustos, L.M. Romito, D. Krainc, J. Winkelmann, M. Carecchio, N. Nardocci, G. Zorzi, H. Prokisch, S.J. Lubbe, B. Garavaglia, 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
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