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Alston, C.L.* et al.: Biallelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am. J. Hum. Genet. 103, 592-601 (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)
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
El-Hattab, A.W.* et al.: Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)
Feichtinger, R.G.* et al.: Combined respiratory chain deficiency and UQCC2 mutations in neonatal encephalomyopathy: Defective supercomplex assembly in complex III deficiencies. Oxid. Med. Cell. Longev. 2017:7202589 (2017)
Feichtinger, R.G.* et al.: Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am. J. Hum. Genet. 101, 525-538 (2017)
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (2017)
Kuechler, A.* et al.: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
Wortmann, S.B. ; Mayr, J.A.* ; Nuoffer, J.M.* ; Prokisch, H. & Sperl, W.*: A guideline for the diagnosis of pediatric mitochondrial disease: The value of muscle and skin biopsies in the genetics era. Neuropediatrics 48, 309-314 (2017)
Wortmann, S.B. et al.: Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Hum. Mutat. 38, 1786-1795 (2017)
Kennedy, H.* et al.: Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. Am. J. Hum. Genet. 99, 674-682 (2016)
Koch, J.* et al.: Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J. Med. Genet. 53, 270-278 (2016)
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
Huemer, M.* et al.: Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J. Inherit. Metab. Dis. 38, 905-914 (2015)
Koch, J.* et al.: Mutations in TTC19: Expanding the molecular, clinical and biochemical phenotype. Orphanet J. Rare Dis. 10:40 (2015)
Prokisch, H. ; Sperl, W.* ; Meitinger, T. & Mayr, J.A.*: Mitochondriopathien – neue Trends in Diagnostik und Therapie. Med. Genet. 27, 282-287 (2015)
Tischner, C.* et al.: MTO1 mediates tissue-specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention. Hum. Mol. Genet. 24, 2247-2266 (2015)
Haack, T.B. et al.: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)