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Author Details

Marisa W Friederich
University of Colorado School of Medicine, Children's Hospital Colorado
1995
34
17
PMIDPaper TitleJournal TitlePublished Year
37151360Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-related mitochondrial disease.JIMD Rep2023
37184518Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.Hepatol Commun2023
35026043Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.Hum Mutat2022
35725853Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.Nat Commun2022
35357708Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.J Inherit Metab Dis2022
35589699Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.Nat Commun2022
34140213Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.Mol Genet Metab2021
32160317Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.J Inherit Metab Dis2020
31917109Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.Mol Genet Metab2020
33279411A novel acceptor stem variant in mitochondrial tRNA<sup>Tyr</sup> impairs mitochondrial translation and is associated with a severe phenotype.Mol Genet Metab2020
32577402Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.Mol Genet Metab Rep2020
32931937The mitochondrial DNA variant m.9032T &gt; C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.Mitochondrion2020
30663059Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.J Inherit Metab Dis2019
31192304Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.Neurol Genet2019
30873612Biomarkers 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 trial.J Inherit Metab Dis2019
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
30283131Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.Nat Commun2018
29576218Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.Am J Hum Genet2018
28040730Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.Hum Mol Genet2017
28363510X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.Pediatr Neurol2017
28216230Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.Mitochondrion2017
29126765New insights into the phenotype of FARS2 deficiency.Mol Genet Metab2017
26773591Potentially 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 syndrome.Free Radic Biol Med2016
26749113Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.J Pediatr2016
25575635Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.Mitochondrion2015
26081110Clinical and biochemical characterization of four patients with mutations in ECHS1.Orphanet J Rare Dis2015
25787132Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.J Med Genet2015
24334290Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.Brain2014
24063851A new mutation in MT-ND1 m.3928G&gt;C p.V208L causes Leigh disease with infantile spasms.Mitochondrion2013
21044047Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation.Biochem J2011
9520407Global flexibility of tertiary structure in RNA: yeast tRNAPhe as a model system.Proc Natl Acad Sci U S A1998
9166779The angle between the anticodon and aminoacyl acceptor stems of yeast tRNA(Phe) is strongly modulated by magnesium ions.Biochemistry1997
7761403Determination of the angle between the anticodon and aminoacyl acceptor stems of yeast phenylalanyl tRNA in solution.Proc Natl Acad Sci U S A1995
8845346A noncanonical tertiary conformation of a human mitochondrial transfer RNA.Biochemistry1995
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Rady Children's Institute for Genomic Medicine
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Co-authored papers 3
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University of Kentucky
Co-authored papers 3
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Guy's Hospital
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Oregon Health & Science University
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Stanford Medicine Clinical Genomics Program
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Matthew Holmes
Institute of Neuroscience, Newcastle University
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Ren?? G Feichtinger
Paracelsus Medical University
Co-authored papers 1
John Christodoulou
University of Melbourne, The Royal Children's Hospital
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Julie Hall
Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Susan Schelley
Stanford University
Co-authored papers 1
Jean M Davidson
Stanford University School of Medicine
Co-authored papers 1
Johanna A J??hn
Christian-Albrechts-University of Kiel
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Erika M Zink
Pacific Northwest National Laboratory
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Stacey Hume
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Kelly G Stratton
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Megan E Grove
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Release 1.2