Hugo Debruge

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation

P. van Endert, A. Imbard, P. Laforêt, 2022, Neurology: Genetics.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

P. van Endert, M. Polak, N. Boddaert, 2020, Journal of inherited metabolic disease.

Abnormal autophagy is a critical mechanism in TANGO2-related rhabdomyolysis

P. van Endert, A. Imbard, N. Dupont, 2023, bioRxiv.