Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9 -deficient mild myopathy

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

(2015) Marie Collet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

(2015) Manuel Schiff et al.   HUMAN MOLECULAR GENETICS

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Mitochondrial Encephalomyopathy Due to a Novel Mutation inACAD9

(2013) Caterina Garone et al.   JAMA Neurology

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS