Anne E. Chiaramello
Affiliations: | Biomedical Sciences | The George Washington University, Washington, DC, United States |
Area:
Cell Biology, Neuroscience Biology, Molecular BiologyGoogle:
"Anne Chiaramello"Mean distance: 53433
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Publications
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| Uittenbogaard M, Gropman AL, Whitehead MT, et al. (2024) Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency. International Journal of Molecular Sciences. 25 |
| Uittenbogaard M, Chiaramello A. (2020) Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications. Molecular Genetics and Metabolism. 131: 38-52 |
| Gropman A, Uittenbogaard M, Brantner CA, et al. (2020) Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood. Molecular Genetics and Metabolism Reports. 24: 100609 |
| Uittenbogaard M, Chiaramello A. (2020) Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications. Molecular Genetics and Metabolism |
| Uittenbogaard M, Wang H, Zhang VW, et al. (2019) The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother. Molecular Genetics and Metabolism |
| Uittenbogaard M, Gropman A, Brantner CA, et al. (2018) Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy. Clinical Case Reports. 6: 2376-2384 |
| Uittenbogaard M, Brantner CA, Fang Z, et al. (2018) 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 glycolysis. Mitochondrion |
| Uittenbogaard M, Brantner CA, Fang Z, et al. (2018) 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 Syndrome. Molecular Genetics and Metabolism |
| Uittenbogaard M, Brantner CA, Chiaramello A. (2018) Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells Cell Death and Disease. 9: 360 |
| Uittenbogaard M, Chiaramello A. (2016) Novel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells. Histochemistry and Cell Biology. 145: 275-286 |