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Mitochondrial complex I-linked disease

Biochimica et biophysica acta, 2016-07, Vol.1857 (7), p.938-945

Rodenburg, Richard J

2016

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Mitochondrial ATP synthase: architecture, function and pathology

Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.211-225

2012

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Biochemical diagnosis of mitochondrial disorders

Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.283-292

Rodenburg, Richard J. T.

2011

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The functional genomics laboratory: functional validation of genetic variants

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.297-307

Rodenburg, Richard J.

2018

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Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1059-1069

2012

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Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function

European journal of heart failure, 2018-05, Vol.20 (5), p.910-919

2018

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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.729-734

2007

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A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

Brain (London, England : 1878), 2013-05, Vol.136 (Pt 5), p.1544-1554

2013

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.394-399

2011

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Serum FGF21 levels in adult m.3243A>G carriers: clinical implications

Neurology, 2014-07, Vol.83 (2), p.125-133

2014

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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.314-320

2012

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Whole exome sequencing of suspected mitochondrial patients in clinical practice

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.437-443

2015

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Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition

Cell metabolism, 2015-09, Vol.22 (3), p.399-407

2015

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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493

2011

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In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

International journal of molecular sciences, 2023-05, Vol.24 (9), p.8247

2023

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Exome sequencing in paediatric patients with movement disorders

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.32-32, Article 32

2021

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Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Human mutation, 2015-01, Vol.36 (1), p.34-38

2015

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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

American journal of human genetics, 2020-01, Vol.106 (1), p.102-111

2020

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A novel mutation in COQ2 leading to fatal infantile multisystem disease

Journal of the neurological sciences, 2013-03, Vol.326 (1), p.24-28

2013

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A guide to diagnosis and treatment of Leigh syndrome

Journal of Neurology, Neurosurgery and Psychiatry, 2014-03, Vol.85 (3), p.257-265

2014

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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.92-92, Article 92

2024

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Effect of neuropsychiatric medications on mitochondrial function: For better or for worse

Neuroscience and biobehavioral reviews, 2021-08, Vol.127, p.555-571

2021

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Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Biochemical journal, 2006-08, Vol.398 (1), p.107-112

2006

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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

Nature genetics, 2018-01, Vol.50 (1), p.120-129

2018

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Mitochondrial complex I-linked disease

Mitochondrial ATP synthase: architecture, function and pathology

Biochemical diagnosis of mitochondrial disorders

The functional genomics laboratory: functional validation of genetic variants

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

Exome sequencing in paediatric patients with movement disorders

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

A novel mutation in COQ2 leading to fatal infantile multisystem disease

A guide to diagnosis and treatment of Leigh syndrome

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

Effect of neuropsychiatric medications on mitochondrial function: For better or for worse

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

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