V. Massa

Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism.

Vezzoli, P. Scheiffele, C. Philippe, 2022, medRxiv.

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

M. Zeviani, M. Mora, R. Vettor, 2008, Human molecular genetics.

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

M. Zeviani, P. Gasparini, P. D'Adamo, 2008, American journal of human genetics.

Evidence for a role of glycosphingolipids in CXCR4‐dependent cell migration

C. Limatola, C. Lauro, M. Catalano, 2007, FEBS letters.

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

M. Zeviani, A. Spinazzola, M. Hirano, 2008, Neuromuscular Disorders.