Marisa W. Friederich

发表

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

A. Larson, J. V. Van Hove, L. Wong, 2020, Mitochondrion.

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder

M. Kerr, Aneal Khan, D. Hittel, 2020, Molecular genetics and metabolism reports.

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

T. Shaikh, M. Minczuk, A. Vanlander, 2015, Journal of Medical Genetics.

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia

J. V. Van Hove, Suhong Tong, S. Young, 2022, Journal of inherited metabolic disease.

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease

J. Shoffner, Aneal Khan, Stacey Hume, 2019, Neurology: Genetics.

Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

S. Franklin, M. Tristani-Firouzi, S. Sommakia, 2022, Nature Communications.

The mitochondrial calcium uniporter compensates for Complex I dysfunction

S. Franklin, M. Tristani-Firouzi, S. Sommakia, 2021 .

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

Roxanne A. Van Hove, R. Saneto, J. V. Van Hove, 2019, Molecular genetics and metabolism.

Mutations 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

M. Lovell, W. S. Chick, J. Riemer, 2016, Human molecular genetics.

Clinical and biochemical characterization of four patients with mutations in ECHS1

S. Ferdinandusse, H. Waterham, F. Vaz, 2015, Orphanet Journal of Rare Diseases.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Malene B. Rasmussen, T. Shaikh, C. Dieckmann, 2014, Brain : a journal of neurology.

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 syndrome.

D. Dimmock, J. V. Van Hove, M. Lawlor, 2016, Free radical biology & medicine.

Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening

W. Yue, M. Wempe, J. V. Van Hove, 2019, Journal of inherited metabolic disease.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation.

C. Kahn, N. Birdsey, P. Watson, 2011, The Biochemical journal.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

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

H. Prokisch, S. Wortmann, G. Geddes, 2021, Molecular genetics and metabolism.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

J. Shendure, D. Nickerson, Martin Kircher, 2017, Mitochondrion.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

R. Wanders, J. Hesselberth, M. Lovell, 2015, Mitochondrion.

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

D. Koboldt, R. Hegele, S. Farhan, 2022, Human mutation.

New insights into the phenotype of FARS2 deficiency

M. Minczuk, S. Seneca, B. Menten, 2017, Molecular genetics and metabolism.

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 trial

U. Christians, K. Moreau, L. Pyle, 2019, Journal of inherited metabolic disease.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

R. Banerjee, T. Haack, D. Dimmock, 2020, Journal of inherited metabolic disease.

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

M. Minczuk, J. C. Jacobsen, R. Snell, 2023, JIMD reports.

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

J. V. Van Hove, G. Scharer, Carter D Wray, 2013, Mitochondrion.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

Ayesha Ahmad, J. Christodoulou, J. V. Van Hove, 2016, The Journal of pediatrics.

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children

S. Guthery, V. Ng, Robert H. Squires, 2023, Hepatology communications.

New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders

M. Hirano, A. Goldstein, J. Smet, 2018 .

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

A. Kurolap, C. Dallabona, Christopher A. Powell, 2020 .

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

T. Shaikh, L. de Meirleir, J. V. Van Hove, 2017, Pediatric neurology.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation.

N. Birdsey, P. Watson, S. Rahman, 2011, The Biochemical journal.