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

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1024-1036

2020

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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

Nature communications, 2022-05, Vol.13 (1), p.2769-2769, Article 2769

2022

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

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.565-574

2019

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

Journal of medical genetics, 2015-08, Vol.52 (8), p.532-540

2015

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Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

Nature communications, 2022-06, Vol.13 (1), p.3532-3532, Article 3532

2022

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

Mitochondrion, 2015-03, Vol.21, p.1-10

2015

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

JIMD reports, 2023-05, Vol.64 (3), p.223-232

2023

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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

Human molecular genetics, 2017-02, Vol.26 (4), p.702-716

2017

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Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

Journal of inherited metabolic disease, 2024-06

2024

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

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.734-747

2022

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

Molecular genetics and metabolism, 2021-08, Vol.133 (4), p.362-371

2021

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ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis

Mitochondrion, 2024-09, Vol.78, p.101905-101905, Article 101905

2024

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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

Molecular genetics and metabolism, 2020-03, Vol.129 (3), p.236-242

2020

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

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.996-1012

2022

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Clinical and biochemical characterization of four patients with mutations in ECHS1

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.79-79, Article 79

2015

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A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype

Molecular genetics and metabolism, 2020-12, Vol.131 (4), p.398-404

2020

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

Mitochondrion, 2020-11, Vol.55, p.8-13

2020

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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

Free radical biology & medicine, 2016-03, Vol.92, p.141-151

2016

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P258: PPA2 deficiency phenotype

Genetics in Medicine Open, 2023, Vol.1 (1), p.100286, Article 100286

2023

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

Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

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

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

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

Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

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

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

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

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

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

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

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

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

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

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis

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

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

Clinical and biochemical characterization of four patients with mutations in ECHS1

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

A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype

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

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

P258: PPA2 deficiency phenotype

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

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