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
Teaching - Programme courses

Postgraduate programmes

Research

Publications

Publications
  • A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children / C. Ciaccio, C. Pantaleoni, F. Taroni, D. Di Bella, S. Magri, E. Lamantea, D. Ghezzi, E. Maria Valente, V. Nigro, S. D'Arrigo. - In: APPLIED SCIENCES. - ISSN 2076-3417. - 11:5(2021 Mar). [Epub ahead of print]
  • A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy / A. Nasca, I. Di Meo, Y. Fellig, A. Saada, O. Elpeleg, D. Ghezzi, S. Edvardson. - In: JOURNAL OF HUMAN GENETICS. - ISSN 1434-5161. - (2021). [Epub ahead of print]
  • 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]