Ghezzi Daniele

Associate Professor
Scientific-Disciplinary Sector
MEDS-01/A - Medical Genetics
Scientific-Disciplinary Group/Competition Sector
06/MEDS-01 - GENETICA MEDICA

Contacts

Workplace

Via Libero Temolo, 4
20126 MILANO (MI)

Additional phone numbers
0223942627
University email address
Office hours
by telephone appointment
Reception office
via L. Temolo 4, 20126 Milano - Lab of Neurogenetics and mitochondrial disorders
Teaching - Programme courses

Postgraduate programmes

Research

Publications

  • An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype / P. Lopriore, A. Legati, C.M. Neuhofer, A. Lo Gerfo, R. Kopajtich, M. Barresi, G. Cecchi, M. Pavlov, R. Izzo, V. Montano, M.A. Caligo, R. Berutti, M. Mancuso, H. Prokisch, D. Ghezzi. - In: MITOCHONDRION. - ISSN 1872-8278. - 83:(2025 Jul), pp. 102037.1-102037.6. [10.1016/j.mito.2025.102037]
  • De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review / M. Magistrati, L. Zupin, E. Lamantea, E. Baruffini, D. Ghezzi, A. Legati, F. Celsi, F.M. Murru, V. Capaci, M. Pinamonti, R. Bussani, M. Carrozzi, C. Dallabona, M. Zeviani, M.T. Bonati. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 26:2(2025), pp. 846.1-846.18. [10.3390/ijms26020846]
  • Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA / M. Barresi, G. Dal Santo, R. Izzo, A. Zauli, E. Lamantea, L. Caporali, D. Ghezzi, A. Legati. - In: BIOTECH. - ISSN 2673-6284. - 14:1(2025), pp. 9.1-9.13. [10.3390/biotech14010009]
  • E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development / M. Di Michele, A. Attina, P. Roux, I. Tabet, S. Laguesse, J. Florido, M. Houdeville, A. Choquet, B. Encislai, G. Arena, C. De Blasio, O. Wendling, F. Frenois, L. Papon, L. Stuani, M. Fuentes, C. Jahannault Talignani, M. Rousseau, J. Guégan, Y. Buscail, P. Dupré, H. Michaud, G. Rodier, F. Bellvert, H. Kulyk, C. Ferraro Peyret, H. Mathieu, P. Close, F. Rapino, C. Chaveroux, N. Pirot, L. Rubio, A. Torro, T. Sorg, F. Ango, C. Hirtz, V. Compan, E. Lebigot, A. Legati, D. Ghezzi, L. Nguyen, A. David, C. Sardet, M. Lacroix, L. Le Cam. - In: NATURE COMMUNICATIONS. - ISSN 2041-1723. - 16:1(2025), pp. 67.1-67.17. [10.1038/s41467-024-55444-y]
  • Intrafamilial Variability in WARS2-Related Disorder: A Family Case / F. Graziola, F.R. Danti, G. Segre, M. Fregonese, R. Izzo, E. Lamentea, D. Ghezzi, A. Ardissone, G. Zorzi. - In: MOVEMENT DISORDERS CLINICAL PRACTICE. - ISSN 2330-1619. - (2025), pp. 1-4. [Epub ahead of print] [10.1002/mdc3.70018]