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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.
Magro G et al.
Biomedicines, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J et al.
The Journal of Pediatrics, 2024
New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.
Murgia C et al.
Nutrition & Metabolism, 2023
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
Monda E et al.
International Journal of Molecular Sciences, 2023
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Clinical utility of exome sequencing in infantile heart failure.
Ritter A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM et al.
Orphanet Journal of Rare Diseases, 2018
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Fragaki K et al.
Muscle & Nerve, 2017
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
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
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
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
Garone C et al.
Jama Neurology, 2013