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Human Molecular Genetics|February 28, 2015
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiencyManuel Schiff, Birgit Haberberger, Chuanwu Xia, et al.Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.Human Molecular Genetics|April 29, 2025
The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseasesClaire Almyre, Nolwenn Bounaix, François Godard, et al.Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.Nature Communications|September 12, 2020
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.Nature Communications|October 20, 2020
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.Pageof 2