Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

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

(2017) Konstantina Fragaki et al.   MUSCLE & NERVE

Treatable mitochondrial diseases: cofactor metabolism and beyond

(2016) Felix Distelmaier et al.   BRAIN

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules

(2016) Nancy Leslie et al.   HUMAN PATHOLOGY

A recurrent mitochondrial p.Trp22ArgNDUFB3variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

(2016) Charlotte L Alston et al.   JOURNAL OF MEDICAL GENETICS

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

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

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

(2014) M. C. Orngreen et al.   NEUROLOGY

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

(2013) Jessica Nouws et al.   HUMAN MOLECULAR GENETICS

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

(2013) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial Encephalomyopathy Due to a Novel Mutation inACAD9

(2013) Caterina Garone et al.   JAMA Neurology

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

(2012) F. Invernizzi et al.   MITOCHONDRION

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

(2010) Jessica Nouws et al.   Cell Metabolism

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

(2010) J P Bonnefont et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

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

(2010) Tobias B Haack et al.   NATURE GENETICS

Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Components

(2008) Jean Bastin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM