PuSH - Publication Server of Helmholtz Zentrum München

16 Records found.
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1.
Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum. Mutat., accepted (2019)
2.
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)
3.
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)
4.
Xu, Z.* et al.: Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am. J. Hum. Genet. 103, 100-114 (2018)
5.
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)
6.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
7.
Sommerville, E.W.* et al.: Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurol. 74, 686-694 (2017)
8.
Alston, C.L.* et al.: A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J. Med. Genet. 53, 634-641 (2016)
9.
Alston, C.L.* et al.: Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99, 217-227 (2016)
10.
Floyd, B.J.* et al.: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function. Mol. Cell 63, 621-632 (2016)
11.
Kennedy, H.* et al.: Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. Am. J. Hum. Genet. 99, 674-682 (2016)
12.
Ahting, U.* et al.: Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency. Front. Genet. 6:123 (2015)
13.
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
14.
Oláhová, M.* et al.: A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. Eur. J. Hum. Genet. 23, 935-939 (2015)
15.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
16.
Powell, C.A.* et al.: TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies. Am. J. Hum. Genet. 97, 319-328 (2015)