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

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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

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(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

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

(2010) Mike Gerards et al.   BRAIN

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

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Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

(2010) Helen A.L. Tuppen et al.   MOLECULAR GENETICS AND METABOLISM

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

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