GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing
2023 A. Legati, D. Ghezzi, C. Viscomi
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
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
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
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
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
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
Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
2023 A. Legati, D. Ghezzi
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 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
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
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
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
2022 V.A. Yepez, M. Gusic, R. Kopajtich, C. Mertes, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itkis, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribes, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
2022 A. Nasca, A. Legati, M. Meneri, M.E. Ermert, C. Frascarelli, N. Zanetti, M. Garbellini, G.P. Comi, A. Catania, C. Lamperti, D. Ronchi, D. Ghezzi
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal
2022 A. Torraco, R. Maroofian, A. Rotig, E. Bertini, D. Ghezzi, R. Carrozzo, D. Diodato
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects
2022 A. Lupica, R. Oteri, S. Volta, D. Ghezzi, S.F.A. Drago, C. Rodolico, O. Musumeci, A. Toscano
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
2022 R. Kaiyrzhanov, S.E.M. Mohammed, R. Maroofian, R.A. Husain, A. Catania, A. Torraco, A. Alahmad, M. Dutra-Clarke, S. Grønborg, A. Sudarsanam, J. Vogt, F. Arrigoni, J. Baptista, S. Haider, R.G. Feichtinger, P. Bernardi, A. Zulian, M. Gusic, S. Efthymiou, R. Bai, F. Bibi, A. Horga, J.A. Martinez-Agosto, A. Lam, A. Manole, D. Rodriguez, R. Durigon, A. Pyle, B. Albash, C. Dionisi-Vici, D. Murphy, D. Martinelli, E. Bugiardini, K. Allis, C. Lamperti, S. Reipert, L. Risom, L. Laugwitz, M. Di Nottia, R. Mcfarland, L. Vilarinho, M. Hanna, H. Prokisch, J.A. Mayr, E.S. Bertini, D. Ghezzi, E. Østergaard, S.B. Wortmann, R. Carrozzo, T.B. Haack, R.W. Taylor, A. Spinazzola, K. Nowikovsky, H. Houlden
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants
2021 L. Peverelli, A. Catania, S. Marchet, P. Ciasca, G. Cammarata, L. Melzi, A. Bellino, R. Fancellu, E. Lamantea, M. Capristo, L. Caporali, C. La Morgia, V. Carelli, D. Ghezzi, S. Bianchi Marzoli, C. Lamperti
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
2021 Z.Y. Yap, S. Efthymiou, S. Seiffert, K. Vargas Parra, S. Lee, A. Nasca, R. Maroofian, I. Schrauwen, M. Pendziwiat, S. Jung, E. Bhoj, P. Striano, K. Mankad, B. Vona, S. Cuddapah, A. Wagner, J.R. Alvi, E. Davoudi-Dehaghani, M.-. Fallah, S. Gannavarapu, C. Lamperti, A. Legati, B.N. Murtaza, M.S. Nadeem, M.U. Rehman, K. Saeidi, V. Salpietro, S. von Spiczak, A. Sandoval, S. Zeinali, M. Zeviani, A. Reich, C. Jang, I. Helbig, T.S. Barakat, D. Ghezzi, S.M. Leal, Y. Weber, H. Houlden, W.H. Yoon