Associated Papers
Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.
Capaci V et al.
International Journal of Molecular Sciences, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2021
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