Associated Papers
Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.
Baris S et al.
International Journal of Molecular Sciences, 2026
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
40400026 (PubMed )
Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › VC_validation_cohort
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C et al.
Journal of Human Genetics, 2019
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