Associated Papers
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
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 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
Select a paper to view details