GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
2021 C. Ciaccio, C. Pantaleoni, F. Taroni, D. Di Bella, S. Magri, E. Lamantea, D. Ghezzi, E. Maria Valente, V. Nigro, S. D'Arrigo
A family with paroxysmal nonkinesigenic dyskinesias (PNKD) : Evidence of mitochondrial dysfunction
2015 D. Ghezzi, C. Canavese, G. Kovacevic, D. Zamurovic, C. Barzaghi, C. Giorgi, G. Zorzi, M. Zeviani, P. Pinton, B. Garavaglia, N. Nardocci
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
2020 M. Di Nottia, M. Marchese, D. Verrigni, C.D. Mutti, A. Torraco, R. Oliva, E. Fernandez-Vizarra, F. Morani, G. Trani, T. Rizza, D. Ghezzi, A. Ardissone, C. Nesti, G. Vasco, M. Zeviani, M. Minczuk, E. Bertini, F.M. Santorelli, R. Carrozzo
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity
2013 F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, D. Ghezzi, C. Lamperti, M. Zeviani
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy
2015 L. Bee, A. Nasca, A. Zanolini, F. Cendron, P. D'Adamo, R. Costa, C. Lamperti, L. Celotti, D. Ghezzi, M. Zeviani
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
2016 D. Diodato, G. Tasca, D. Verrigni, A. D'Amico, T. Rizza, G. Tozzi, D. Martinelli, M. Verardo, F. Invernizzi, A. Nasca, E. Bellacchio, D. Ghezzi, F. Piemonte, C. Dionisi Vici, R. Carrozzo, E. Bertini
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
2017 A. Legati, A. Reyes, C. Ceccatelli Berti, O. Stehling, S. Marchet, C. Lamperti, A. Ferrari, A.J. Robinson, U. Mühlenhoff, R. Lill, M. Zeviani, P. Goffrini, D. Ghezzi
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
2021 A. Nasca, I. Di Meo, Y. Fellig, A. Saada, O. Elpeleg, D. Ghezzi, S. Edvardson
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
2012 C. Lamperti, M. Fang, F. Invernizzi, X. Liu, H. Wang, Q. Zhang, F. Carrara, I. Moroni, M. Zeviani, J. Zhang, D. Ghezzi
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
2014 L. Melchionda, N.S. Damseh, B.Y. Abu Libdeh, A. Nasca, O. Elpeleg, A. Zanolini, D. Ghezzi
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
2015 A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia : a POLG mimic?
2016 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 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 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 D. Ghezzi, M. Zeviani
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
2020 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 F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi
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
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
2020 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 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