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Marisa W. Friederich

University of Colorado Denver
University of Colorado Boulder

34

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964

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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

2021 Molecular Genetics and Metabolism
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A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.

2020 Molecular Genetics and Metabolism
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Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.

2020 Molecular genetics and metabolism reports
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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.

2020 Journal of Inherited Metabolic Disease
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The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

2020 Mitochondrion
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Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement

2019 Molecular Genetics and Metabolism
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Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease

2019 Neurology Genetics
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Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

2019 Journal of Inherited Metabolic Disease
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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

2018 American Journal of Human Genetics
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New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders

2018 Molecular Genetics and Metabolism
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