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American Journal of Human Genetics|August 1, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal EncephalopathyFlorence Habarou, Yamina Hamel, Tobias B Haack, et al.Annals of Clinical and Translational Neurology|May 4, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohortCécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, et al.Nature Communications|January 2, 2025
E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain developmentMichela Di Michele, Aurore Attina, Pierre-François Roux, et al.Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.Pageof 3