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18 Records found.
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1.
Cousin, M.A.* et al.: RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am. J. Hum. Genet. 105, 108-121 (2019)
2.
Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum. Mutat., accepted (2019)
3.
Stenton, S. ; Kremer, L.S. ; Kopajtich, R. ; Ludwig, C.* & Prokisch, H.: The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics and proteomics. J. Inherit. Metab. Dis., accepted (2019)
4.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
5.
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)
6.
Yepez, V.* et al.: OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using seahorse XF analyzer. PLoS ONE 13:e0199938 (2018)
7.
Kopajtich, R. ; Mayr, J.A.* & Prokisch, H.: Analysis of mitochondrial RNA-processing defects in patient-derived tissues by qRT-PCR and RNAseq. Methods Mol. Biol. 1567, 379-390 (2017)
8.
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
9.
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)
10.
Altmann, J.* et al.: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: Data from the German mitoNET registry. J. Neurol. 263, 961-972 (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.
Kopajtich, R. et al.: Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy. Am. J. Hum. Genet. 99, 414-422 (2016)
13.
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)
14.
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)
15.
Kopajtich, R. et al.: Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am. J. Hum. Genet. 59, 708-720 (2014)
16.
Synofzik, M.* et al.: Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am. J. Hum. Genet. 95, 689-697 (2014)
17.
Baruffini, E.* et al.: MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34, 1501-1509 (2013)
18.
Haack, T.B. et al.: ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am. J. Hum. Genet. 93, 211-223 (2013)