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1.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
2.
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
3.
Hermann, A.* et al.: A case of beta-propeller protein-associated neurodegeneration due to a heterozygous deletion of WDR45. Tremor Other Hyperkinet. Mov. 7:465 (2017)
4.
Iuso, A. ; Repp, B.* ; Biagosch, C. ; Terrile, C. & Prokisch, H.: Assessing mitochondrial bioenergetics in isolated mitochondria from various mouse tissues using seahorse XF96 analyzer. Methods Mol. Biol. 1567, 217-230 (2017)
5.
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
6.
Holzerova, E. et al.: Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346-354 (2016)
7.
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)
8.
Staufner, C.* et al.: Recurrent acute liver failure due to NBAS deficiency: Phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3-16 (2016)
9.
Staufner, C.* et al.: Genetic cause and prevalence of hydroxyprolinemia. J. Inherit. Metab. Dis. 39, 625-632 (2016)
10.
Haack, T.B. et al.: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97, 163-169 (2015)