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Journal of Medical Genetics|March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorderCurtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.American Journal of Medical Genetics. Part A|July 21, 2026
Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in ChildhoodRodrigo T Starosta, Marisa W Friederich, Graeme Preston, et al.Orphanet Journal of Rare Diseases|June 18, 2015
Clinical and biochemical characterization of four patients with mutations in ECHS1Sacha Ferdinandusse, Marisa W Friederich, Alberto Burlina, et al.American Journal of Human Genetics|June 11, 2025
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndromeHana Antonicka, Woranontee Weraarpachai, Katherine M Szigety, et al.Mitochondrion|May 26, 2024
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosisJohan L K Van Hove, Marisa W Friederich, Daniella H Hock, et al.Journal of Inherited Metabolic Disease|March 12, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseMarisa W Friederich, Abdallah F Elias, Alice Kuster, et al.Nature Communications|May 19, 2022
Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairmentEnrique Balderas, David R Eberhardt, Sandra Lee, et al.Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.Journal of Inherited Metabolic Disease|January 28, 2026
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine DeficiencyMichael A Swanson, Hua Jiang, Lakshmi Divya Kolora, et al.Pageof 5