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
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
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
31880409 (PubMed )
Supplement: MGG3-8-e1053-s001.xlsx › Sheet1
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C et al.
Journal of Human Genetics, 2019
The genetics and pathology of mitochondrial disease.
Alston CL et al.
The Journal of Pathology, 2017
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Stroud DA et al.
Nature, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 2009
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