Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cellsMartine Uittenbogaard, Anne Chiaramello, Christine A. Brantner|Cell Death and Disease|2018Cited by 50
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh SyndromeMartine Uittenbogaard, Anne Chiaramello, Christine A. Brantner et al.|Molecular Genetics and Metabolism|2018Cited by 24
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic motherMartine Uittenbogaard, Anne Chiaramello, Hao Wang et al.|Molecular Genetics and Metabolism|2019Cited by 18
The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysisMartine Uittenbogaard, Anne Chiaramello, Christine A. Brantner et al.|Mitochondrion|2018Cited by 13
Novel metabolic signatures of compound heterozygous <i>Szt2</i> variants in a case of early‐onset of epileptic encephalopathyMartine Uittenbogaard, Anne Chiaramello, Andrea Gropman et al.|Clinical Case Reports|2018Cited by 13