GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia : a POLG mimic?
2016-07-01 O. Hikmat, C. Tzoulis, P.M. Knappskog, S. Johansson, H. Boman, P. Sztromwasser, E. Lien, E. Brodtkorb, D. Ghezzi, L.A. Bindoff
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
2013-05-01 L. Melchionda, M. Fang, H. Wang, V. Fugnanesi, M. Morbin, X. Liu, W. Li, I. Ceccherini, L. Farina, M. Savoiardo, P. D'Adamo, J. Zhang, A. Costa, S. Ravaglia, D. Ghezzi, M. Zeviani
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS
2019-01-01 A. Signes, R. Cerutti, A.S. Dickson, C. Benincá, E.C. Hinchy, D. Ghezzi, R. Carrozzo, E. Bertini, M.P. Murphy, J.A. Nathan, C. Viscomi, E. Fernandez-Vizarra, M. Zeviani
Assembly factors of human mitochondrial respiratory chain complexes: Physiology and pathophysiology
2012-01-01 D. Ghezzi, M. Zeviani
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
2020-01-01 L. Caporali, S. Magri, A. Legati, V. Del Dotto, F. Tagliavini, F. Balistreri, A. Nasca, C. La Morgia, M. Carbonelli, M.L. Valentino, E. Lamantea, S. Baratta, L. Schols, R. Schule, P. Barboni, M.L. Cascavilla, A. Maresca, M. Capristo, A. Ardissone, D. Pareyson, G. Cammarata, L. Melzi, M. Zeviani, L. Peverelli, C. Lamperti, S.B. Marzoli, M. Fang, M. Synofzik, D. Ghezzi, V. Carelli, F. Taroni
Benign hereditary chorea and deletions outside NKX2-1 : what's the role of MBIP?
2018-10-01 F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
2020-11-01 A. Alahmad, A. Nasca, J. Heidler, K. Thompson, M. Olahova, A. Legati, E. Lamantea, J. Meisterknecht, M. Spagnolo, L. He, S. Alameer, F. Hakami, A. Almehdar, A. Ardissone, C.L. Alston, R. Mcfarland, I. Wittig, D. Ghezzi, R.W. Taylor
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
2021-01-01 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
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
2016-09-01 A. Nasca, A. Legati, E. Baruffini, C. Nolli, I. Moroni, A. Ardissone, P. Goffrini, D. Ghezzi
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations
2014-11-20 F. Invernizzi, A. Ardissone, E. Lamantea, B. Garavaglia, M. Zeviani, L. Farina, D. Ghezzi, I. Moroni
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders
2015-11-01 D. Tonduti, G. Zorzi, D. Ghezzi, F. Zibordi, B. Garavaglia, N. Nardocci
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
2018-01-01 A. Nasca, F. Nardecchia, A. Commone, M. Semeraro, A. Legati, B. Garavaglia, D. Ghezzi, V. Leuzzi
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy
2016-11-01 F. Raviglione, G. Conte, D. Ghezzi, C. Parazzini, A. Righini, R. Vergaro, A. Legati, L. Spaccini, S. Gasperini, B. Garavaglia, M. Mastrangelo
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
2018-07-19 B.M. Repp, E. Mastantuono, C.L. Alston, M. Schiff, T.B. Haack, A. Rötig, A. Ardissone, A. Lombès, C.B. Catarino, D. Diodato, G. Schottmann, J. Poulton, A. Burlina, A. Jonckheere, A. Munnich, B. Rolinski, D. Ghezzi, D. Rokicki, D. Wellesley, D. Martinelli, D. Wenhong, E. Lamantea, E. Ostergaard, E. Pronicka, G. Pierre, H.J.M. Smeets, I. Wittig, I. Scurr, I.F.M. De Coo, I. Moroni, J. Smet, J.A. Mayr, L. Dai, L. De Meirleir, M. Schuelke, M. Zeviani, R.J. Morscher, R. Mcfarland, S. Seneca, T. Klopstock, T. Meitinger, T. Wieland, T.M. Strom, U. Herberg, U. Ahting, W. Sperl, M. Nassogne, H. Ling, F. Fang, P. Freisinger, R. Van Coster, V. Strecker, R.W. Taylor, J. Häberle, J. Vockley, H. Prokisch, S. Wortmann
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
2018-04-01 F. Bruni, I. Di Meo, E. Bellacchio, B.D. Webb, R. Mcfarland, Z.M.A. Chrzanowska-Lightowlers, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P.E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R.W. Taylor, D. Diodato
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
2021-01-01 A. Ardissone, C. Bruno, D. Diodato, A. Donati, D. Ghezzi, E. Lamantea, C. Lamperti, M. Mancuso, D. Martinelli, G. Primiano, E. Procopio, A. Rubegni, F. Santorelli, M.C. Schiaffino, S. Servidei, F. Tubili, E. Bertini, I. Moroni
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
2021-03-01 C. Ciaccio, C. Pantaleoni, F. Taroni, D. Di Bella, S. Magri, E. Lamantea, D. Ghezzi, E. Maria Valente, V. Nigro, S. D'Arrigo
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy
2019-05-01 D. Verrigni, M.D. Nottia, A. Ardissone, E. Baruffini, A. Nasca, A. Legati, E. Bellacchio, G. Fagiolari, D. Martinelli, L. Fusco, D. Battaglia, G. Trani, G. Versienti, S. Marchet, A. Torraco, T. Rizza, M. Verardo, A. D'Amico, D. Diodato, I. Moroni, C. Lamperti, S. Petrini, M. Moggio, P. Goffrini, D. Ghezzi, R. Carrozzo, E. Bertini
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease
2017-06-01 E. Bugiardini, O.V. Poole, A. Manole, A.M. Pittman, A. Horga, I. Hargreaves, C.E. Woodward, M.G. Sweeney, J.L. Holton, J. Taanman, G.T. Plant, J. Poulton, M. Zeviani, D. Ghezzi, J. Taylor, C. Smith, C. Fratter, M.A. Kanikannan, A. Paramasivam, K. Thangaraj, A. Spinazzola, I.J. Holt, H. Houlden, M.G. Hanna, R.D..S. Pitceathly
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
2016-12-01 A.M. Lyons, A. Ardissone, A. Reyes, A.J. Robinson, I. Moroni, D. Ghezzi, E. Fernandez Vizarra, M. Zeviani