Respiratory chain complex I deficiency
An underdiagnosed energy generation disorder
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- A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy, Journal of Neuromuscular Diseases, 11, 2, (485-491), (2024).https://doi.org/10.3233/JND-230181
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- Restoration of defective oxidative phosphorylation to a subset of neurons prevents mitochondrial encephalopathy, EMBO Molecular Medicine, 16, 9, (2210-2232), (2024).https://doi.org/10.1038/s44321-024-00111-4
- Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease, Nature Metabolism, 6, 6, (1128-1142), (2024).https://doi.org/10.1038/s42255-024-01039-2
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders, Genetics in Medicine, 26, 6, (101117), (2024).https://doi.org/10.1016/j.gim.2024.101117
- Systems Biology Approach in Understanding Mitochondrial Disease, Systems Biology Approaches: Prevention, Diagnosis, and Understanding Mechanisms of Complex Diseases, (173-193), (2024).https://doi.org/10.1007/978-981-99-9462-5_8
- Mitochondrial Complex I Deficiency, Nuclear Types 1–37 (MC1DN) and Mitochondrial Type 1 (MC1DM1), Genetic Syndromes, (1-5), (2024).https://doi.org/10.1007/978-3-319-66816-1_1363-1
- Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype , Ultrasound in Obstetrics & Gynecology, 63, 3, (392-398), (2024).https://doi.org/10.1002/uog.27482
- Acute Encephalopathy Caused by Inherited Metabolic Diseases, Journal of Clinical Medicine, 12, 11, (3797), (2023).https://doi.org/10.3390/jcm12113797
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