Associated Papers
Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.
Balcerzyk-Matić A et al.
International Journal of Molecular Sciences, 2025
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.
Radenkovic S et al.
Cells, 2025
Post-mortem genetic investigation in sudden cardiac death victims: complete exon sequencing of forty genes using next-generation sequencing.
Fadoni J et al.
International Journal of Legal Medicine, 2022
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Ilinca A et al.
Stroke, 2020
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Bird MJ et al.
Metabolites, 2019
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
Ahmed ST et al.
Scientific Reports, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
Collet M et al.
European Journal of Human Genetics : Ejhg, 2016
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Schiff M et al.
Human Molecular Genetics, 2015
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.
Nouws J et al.
Jimd Reports, 2014
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Nouws J et al.
Brain : a Journal of Neurology, 2012
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack TB et al.
Nature Genetics, 2010