Patrizia Amati-Bonneau

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Dan Milea, Johan T den Dunnen, Xavier Zanlonghi, 2019, Orphanet journal of rare diseases.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Daniel Henrion, Guy Lenaers, Patrizia Amati-Bonneau, 2017, Biochimica et biophysica acta. Molecular basis of disease.