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
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A et al.
Journal of Neuromuscular Diseases, 2024
38217609 (PubMed )
Supplement: jnd-11-jnd230181-s001.xlsx › Tabelle1
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C et al.
Journal of Human Genetics, 2019
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
Select a paper to view details