Ghezzi Daniele

Associate Professor
SSD
MED/03 - MEDICAL GENETICS
Competition sector
06/A1 - MEDICAL GENETICS

Contacts

Workplace

Via Libero Temolo, 4
20126 MILANO (MI)

Additional phone numbers
02-23942627
University email address
Web site
Research

Publications

Publications
  • Response to: “Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number” / C. Lamperti, S. Marchet, A. Legati, D. Ghezzi. - In: HUMAN MUTATION. - ISSN 1059-7794. - 41:11(2020 Nov), pp. 2014-2015.
  • A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly / 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. - In: NEUROBIOLOGY OF DISEASE. - ISSN 0969-9961. - 141(2020 Apr 25). [Epub ahead of print]
  • ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy / 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. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - (2020). [Epub ahead of print]
  • New missense variants of NDUFA11 associated with late-onset myopathy / L. Peverelli, A. Legati, E. Lamantea, A. Nasca, A. Lerario, V. Galimberti, D. Ghezzi, C. Lamperti. - In: MUSCLE & NERVE. - ISSN 0148-639X. - (2019 May 10). [Epub ahead of print]
  • Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy / 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. - In: HUMAN MUTATION. - ISSN 1059-7794. - 40:5(2019 May), pp. 601-618.