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Eraslan, B.* et al.: Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues. Mol. Syst. Biol. 15:e8513 (2019)
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)
Yepez, V.* et al.: OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using seahorse XF analyzer. PLoS ONE 13:e0199938 (2018)
Ait-El-Mkadem, S.* et al.: Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am. J. Hum. Genet. 100, 151-159 (2017)
Catarino, C.B.* et al.: Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion 36, 15-20 (2016)