Associated Papers
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Chen PS et al.
Journal of Neuromuscular Diseases, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
Schrank B et al.
Neuromuscular Disorders : Nmd, 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
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
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