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
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY et al.
Human Genomics, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
Baertling F et al.
Clinical Genetics, 2018
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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