Associated Papers
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Magrinelli F et al.
Brain Communications, 2025
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
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
Baertling F et al.
Clinical Genetics, 2018
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Stroud DA et al.
Nature, 2016
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
van den Bosch BJ et al.
Journal of Medical Genetics, 2012
Childhood-Onset Generalized Dystonia Due to NDUFA9 Gene Mutation: An Expansion of Mutations Causing Leigh's Syndrome.
Singh R et al.
Annals of Indian Academy of Neurology, 0
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