Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene.
Ou-Yang CH et al.
Stem Cell Research, 2024
Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Chen PS et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.
Legro NR et al.
American Journal of Medical Genetics. Part A, 2022
A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.
Wen Y et al.
Molecular Genetics & Genomic Medicine, 2022
A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood.
Bi H et al.
Frontiers in Neurology, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
NDUFAF5 variants manifest phenotypically heterogeneously.
Finsterer J
Molecular Genetics and Metabolism Reports, 2019
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT et al.
Molecular Genetics and Metabolism, 2019
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
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