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
Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas.
Välimäki N et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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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