GHEZZI, DANIELE
GHEZZI, DANIELE
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Genetic diagnosis of Mendelian disorders via RNA sequencing
2017 L.S. Kremer, D.M. Bader, C. Mertes, R. Kopajtich, G. Pichler, A. Iuso, T.B. Haack, E. Graf, T. Schwarzmayr, C. Terrile, E. Koňaříková, B. Repp, G. Kastenmüller, J. Adamski, P. Lichtner, C. Leonhardt, B. Funalot, A. Donati, V. Tiranti, A. Lombes, C. Jardel, D. Gläser, R.W. Taylor, D. Ghezzi, J.A. Mayr, A. Rötig, P. Freisinger, F. Distelmaier, T.M. Strom, T. Meitinger, J. Gagneur, H. Prokisch
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
Human diseases associated with defects in assembly of OXPHOS complexes
2018 D. Ghezzi, M. Zeviani
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
2018 A. Ardissone, D. Tonduti, A. Legati, E. Lamantea, R. Barone, I. Dorboz, O. Boespflug-Tanguy, G. Nebbia, M. Maggioni, B. Garavaglia, I. Moroni, L. Farina, A. Pichiecchio, S. Orcesi, L. Chiapparini, D. Ghezzi
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
2016 A. Legati, A. Reyes, A. Nasca, F. Invernizzi, E. Lamantea, V. Tiranti, B. Garavaglia, C. Lamperti, A. Ardissone, I. Moroni, A. Robinson, D. Ghezzi, M. Zeviani
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
2015 G. Brea Calvo, T.B. Haack, D. Karall, A. Ohtake, F. Invernizzi, R. Carrozzo, L. Kremer, S. Dusi, C. Fauth, S. Scholl Bürgi, E. Graf, U. Ahting, N. Resta, N. Laforgia, D. Verrigni, Y. Okazaki, M. Kohda, D. Martinelli, P. Freisinger, T.M. Strom, T. Meitinger, C. Lamperti, A. Lacson, P. Navas, J.A. Mayr, E. Bertini, K. Murayama, M. Zeviani, H. Prokisch, D. Ghezzi
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
2013 X. Gai, D. Ghezzi, M.A. Johnson, C.A. Biagosch, H.E. Shamseldin, T.B. Haack, A. Reyes, M. Tsukikawa, C.A. Sheldon, S. Srinivasan, M. Gorza, L.S. Kremer, T. Wieland, T.M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A.J. Robinson, L. Wong, N. Sondheimer, M.A. Salih, E. Al-Jishi, C.P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J.A. Mayr, V. Konstantopoulou, M. Huemer, E.A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F.S. Alkuraya, M.J. Falk, M. Zeviani
Novel (ovario) leukodystrophy related to AARS2 mutations
2014 C. Dallabona, D. Diodato, S.H. Kevelam, T.B. Haack, L. Wong, G.S. Salomons, E. Baruffini, L. Melchionda, C. Mariotti, T.M. Strom, T. Meitinger, H. Prokisch, K. Chapman, A. Colley, H. Rocha, K. Ounap, R. Schiffmann, E. Salsano, M. Savoiardo, E.M. Hamilton, T.E..M. Abbink, N.I. Wolf, I. Ferrero, C. Lamperti, M. Zeviani, A. Vanderver, D. Ghezzi, M.S. Van Der Knaap
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
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
2015 A. Reyes, L. Melchionda, A. Nasca, F. Carrara, E. Lamantea, A. Zanolini, C. Lamperti, M. Fang, J. Zhang, D. Ronchi, S. Bonato, G. Fagiolari, M. Moggio, D. Ghezzi, M. Zeviani
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
Not only dominant, not only optic atrophy : expanding the clinical spectrum associated with OPA1 mutations
2017 A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
2016 A. Nasca, A. Legati, E. Baruffini, C. Nolli, I. Moroni, A. Ardissone, P. Goffrini, D. Ghezzi
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
2016 A.M. Lyons, A. Ardissone, A. Reyes, A.J. Robinson, I. Moroni, D. Ghezzi, E. Fernandez Vizarra, M. Zeviani
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
2014 L. Melchionda, T.B. Haack, S. Hardy, T.E.M. Abbink, E. Fernandez Vizarra, E. Lamantea, S. Marchet, L. Morandi, M. Moggio, R. Carrozzo, A. Torraco, D. Diodato, T.M. Strom, T. Meitinger, P. Tekturk, Z. Yapici, F. Al Murshedi, R. Stevens, R.J. Rodenburg, C. Lamperti, A. Ardissone, I. Moroni, G. Uziel, H. Prokisch, R.W. Taylor, E. Bertini, M.S. Van Der Knaap, D. Ghezzi, M. Zeviani
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
2018 A. Catania, A. Ardissone, D. Verrigni, A. Legati, A. Reyes, E. Lamantea, D. Diodato, D. Tonduti, V. Imperatore, A.M. Pinto, I. Moroni, E. Bertini, A. Robinson, R. Carrozzo, M. Zeviani, D. Ghezzi
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
2013 E. Baruffini, C. Dallabona, F. Invernizzi, J.W. Yarham, L. Melchionda, E.L. Blakely, E. Lamantea, C. Donnini, S. Santra, S. Vijayaraghavan, H.P. Roper, A. Burlina, R. Kopajtich, A. Walther, T.M. Strom, T.B. Haack, H. Prokisch, R.W. Taylor, I. Ferrero, M. Zeviani, D. Ghezzi
Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions
2018 A. Reyes, L. Melchionda, A. Burlina, A.J. Robinson, D. Ghezzi, M. Zeviani
The mitochondrial aminoacyl tRNA synthetases : Genes and syndromes
2014 D. Diodato, D. Ghezzi, V. Tiranti
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
2014 D. Diodato, L. Melchionda, T.B. Haack, C. Dallabona, E. Baruffini, C. Donnini, T. Granata, F. Ragona, P. Balestri, M. Margollicci, E. Lamantea, A. Nasca, C.A. Powell, M. Minczuk, T.M. Strom, T. Meitinger, H. Prokisch, C. Lamperti, M. Zeviani, D. Ghezzi