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
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A et al.
Journal of Neuromuscular Diseases, 2024
Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome.
Li Y et al.
Medicine, 2022
Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly.
Kahlhöfer F et al.
Life (basel, Switzerland), 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C et al.
Journal of Human Genetics, 2019
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
Select a paper to view details