Associated Papers
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature.
Kim J et al.
Frontiers in Pediatrics, 2022
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H et al.
Molecular Genetics and Metabolism, 2019
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Johnstone T et al.
Molecular Genetics and Metabolism, 0
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