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Molecular Genetics and Metabolism|October 22, 2025
Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblastsMarisa W Friederich, Johan L K Van HoveMolecular Genetics and Metabolism Reports|June 25, 2020
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorderJennifer Bennett, Marina Kerr, Steven C Greenway, et al.Neurology. Genetics|June 14, 2019
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial diseaseChristopher Newell, Aneal Khan, David Sinasac, et al.Molecular Genetics and Metabolism|January 10, 2020
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvementMarisa W Friederich, Francisco A Perez, Kaz M Knight, et al.Free Radical Biology & Medicine|January 17, 2016
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeBrian Bennett, Daniel Helbling, Hui Meng, et al.Mitochondrion|September 15, 2020
The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndromeKaz M Knight, Emily Shelkowitz, Austin A Larson, et al.Mitochondrion|September 26, 2013
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasmsCarter D Wray, Marisa W Friederich, Desiree du Sart, et al.Molecular Genetics and Metabolism|June 18, 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defectMarisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, et al.Journal of Inherited Metabolic Disease|January 22, 2019
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screeningMichael F Wempe, Amit Kumar, Vijay Kumar, et al.Molecular Genetics and Metabolism|December 6, 2020
A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotypeKimberly A Kripps, Marisa W Friederich, Ting Chen, et al.Pageof 5