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Daniele Ghezzi

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2014-2023
Publications (10 Years): 22

Top Venues

Human mutation

Annals of neurology

Annals of clinical and translational neurology

Brain : a journal of neurology

University of Milan

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Milan Sep 1o 2017

Italy

Professor :: Department of Pathophysiology and Transplantation

Publications

Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P Comi, Dario Ronchi, Daniele Ghezzi, Costanza Lamperti
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia. Genes 14 (7) (2023)
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, Alison J Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, null null, César Augusto Pinheiro Ferreira Alves, Anna Ardissone, Renkui Bai, Isabella Peixoto de Barcelos, Enrico Bertini, Krista Bluske, John Christodoulou, Amanda R Clause, William C Copeland, George A Diaz, Nazzareno Diodato, Matthew C Dulik, Greg Enns, Annette Feigenbaum, Carl Fratter, Daniele Ghezzi, Amy Goldstein, Andrea Gropman, Richard Haas, Amel Karaa, Mary Kay Koenig, Berrin Monteleone, Sumit Parikh, Belen Perez Duenas, Revathi Rajkumar, Ann Saada, Russell P Saneto, Kate Sergeant, John Shoffner, Conrad Smith, Christine Stanley, Isabelle Thiffault, David Thorburn, Melissa Walker, Douglas Wallace, Lee-Jun Wong, Xiaowu Gai, Marni J Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of neurology (2023)
Alberto A Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera
Expanding the spectrum of neonatal-onset AIFM1-associated disorders. Annals of clinical and translational neurology (2023)
Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, Michael Zech, Ignacio J Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe Ignacio Bustos, Luigi Michele Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J Lubbe, Barbara Garavaglia, Daniele Ghezzi
Variants in ATP5F1B are associated with dominantly inherited dystonia. Brain : a journal of neurology (2023)
Mirko Baglivo, Alessia Nasca, Eleonora Lamantea, Stefano Vinci, Manuela Spagnolo, Silvia Marchet, Holger Prokisch, Alessia Catania, Costanza Lamperti, Daniele Ghezzi
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects. International journal of molecular sciences 24 (16) (2023)
Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Nadia Zanetti, Manuela Garbellini, Giacomo Pietro Comi, Alessia Catania, Costanza Lamperti, Dario Ronchi, Daniele Ghezzi
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. Cells 11 (6) (2022)
Dario Brunetti, Alessia Catania, Carlo Viscomi, Michela Deleidi, Laurence A Bindoff, Daniele Ghezzi, Massimo Zeviani
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration. Biomedicines 9 (7) (2021)
Roberta Peruzzo, Samantha Corrà, Roberto Costa, Michele Brischigliaro, Tatiana Varanita, Lucia Biasutto, Chiara Rampazzo, Daniele Ghezzi, Luigi Leanza, Mario Zoratti, Massimo Zeviani, Cristiano De Pittà, Carlos Pardo-Hernández, Rodolfo Costa, Ildikò Szabo
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction. Nature communications 12 (1) (2021)
Alessia Nasca, Ivano Di Meo, Yakov Fellig, Ann Saada, Orly Elpeleg, Daniele Ghezzi, Shimon Edvardson
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy. Journal of human genetics 66 (8) (2021)
Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha S Zaki, Giorgia Olivieri, Zahra Assouline, Diego Martinelli, Reza Maroofian, Teresa Rizza, Michela Di Nottia, Federica Invernizzi, Eleonora Lamantea, Daniela Longo, Henry Houlden, Holger Prokisch, Agnès Rötig, Carlo Dionisi-Vici, Enrico Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Human mutation 42 (6) (2021)
Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P Ferla, Elisa Fassone, Mary-Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B Kamarus Jaman, Manju A Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza-Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B Tylleskär, Damien Brackman, Saskia B Wortmann, Jenny C Taylor, Laurence A Bindoff, Vineta Fellman, Shamima Rahman
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of clinical and translational neurology 8 (11) (2021)
Costanza Lamperti, Silvia Marchet, Andrea Legati, Daniele Ghezzi
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number". Human mutation 41 (11) (2021)
Alessandra Torraco, Reza Maroofian, Agnès Rötig, Enrico Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal. Human mutation (2021)
Federica Invernizzi, Andrea Legati, Alessia Nasca, Eleonora Lamantea, Barbara Garavaglia, Mirjana Gusic, Robert Kopajtich, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Daniele Ghezzi
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3. Brain : a journal of neurology 144 (9) (2021)
Silvia Marchet, Andrea Legati, Alessia Nasca, Ivano Di Meo, Manuela Spagnolo, Nadia Zanetti, Eleonora Lamantea, Alessia Catania, Costanza Lamperti, Daniele Ghezzi
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions. Human mutation 41 (10) (2020)
Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria L Valentino, Eleonora Lamantea, Silvia Baratta, Ludger Schöls, Rebecca Schüle, Piero Barboni, Maria L Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melzi, Massimo Zeviani, Lorenzo Peverelli, Costanza Lamperti, Stefania B Marzoli, Mingyan Fang, Matthis Synofzik, Daniele Ghezzi, Valerio Carelli, Franco Taroni
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. Annals of neurology 88 (1) (2020)
Alessia Catania, Andrea Legati, Lorenzo Peverelli, Lorenzo Nanetti, Silvia Marchet, Nadia Zanetti, Costanza Lamperti, Daniele Ghezzi
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. American journal of medical genetics. Part A 179 (5) (2019)
Alessia Catania, Anna Ardissone, Daniela Verrigni, Andrea Legati, Aurelio Reyes, Eleonora Lamantea, Nazzareno Diodato, Davide Tonduti, Valentina Imperatore, Anna Maria Pinto, Isabella Moroni, Enrico Bertini, Alan Robinson, Rosalba Carrozzo, Massimo Zeviani, Daniele Ghezzi
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis. Journal of human genetics 63 (5) (2018)
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. Journal of medical genetics 54 (12) (2017)
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Human mutation 38 (8) (2017)
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations. Orphanet journal of rare diseases 12 (1) (2017)
Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. Journal of medical genetics 53 (12) (2016)
Nazzareno Diodato, Daniele Ghezzi, Valeria Tiranti
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes. International journal of cell biology 2014 (2014)

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Publication Activity (10 Years)

Top Topics

Top Venues

Daniele Ghezzi