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21.
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
22.
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)
23.
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)
24.
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)
25.
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)
26.
Gai, X.* et al.: Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93, 482-495 (2013)
27.
Hildick-Smith, G.J.* et al.: Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am. J. Hum. Genet. 93, 906-914 (2013)