Associated Papers
Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.
Xu J et al.
Molecular Genetics & Genomic Medicine, 2026
The first report of a successful birth by preimplantation genetic testing for leukodystrophy induced by IBA57 gene.
Wang J et al.
Taiwanese Journal of Obstetrics & Gynecology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG74
Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.
Zhan F et al.
Metabolic Brain Disease, 2022
Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
Liu M et al.
Clinical Genetics, 2018
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