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Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
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)
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)
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)
Habarou, F.* et al.: Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy. Am. J. Hum. Genet. 101, 283-290 (2017)
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (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)
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)
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)
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)
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)
Thiels, C.* et al.: Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation? JIMD Rep., 89-93 (2016)
Koch, J.* et al.: Mutations in TTC19: Expanding the molecular, clinical and biochemical phenotype. Orphanet J. Rare Dis. 10:40 (2015)
Mayr, J.A.* et al.: Spectrum of combined respiratory chain defects. J. Inherit. Metab. Dis. 38, 629-640 (2015)
Sperl, W.J.K.* et al.: The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J. Inherit. Metab. Dis. 38, 391-403 (2015)
Banka, S.* et al.: Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations. Mol. Genet. Metab. 113, 301-306 (2014)