Associated Papers
A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.
Giguet-Valard AG et al.
International Journal of Molecular Sciences, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.
Murgia C et al.
Nutrition & Metabolism, 2023
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.
Aintablian HK et al.
Molecular Genetics and Metabolism Reports, 2017
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Dewulf JP et al.
Molecular Genetics and Metabolism, 2016
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