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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)
Danhauser, K.* et al.: Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur. J. Hum. Genet. 24, 450-454 (2016)
Danhauser, K.* et al.: EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab. Brain Dis. 31, 717-721 (2016)
Holzerova, E. et al.: Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346-354 (2016)
Kremer, L.S. et al.: NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am. J. Hum. Genet. 99, 894-902 (2016)
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)
Danhauser, K.: Funktionelle Analyse von seltenen DNA-Varianten in Genen, die mit einem Defekt des Atmungskettenkomplexes I assoziiert sind. München, Technische Universität, Fakultät für Medizin, Diss., 2013, 102 S.
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)
Kornblum, C.* et al.: Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat. Genet. 45, 214-219 (2013)
Danhauser, K. et al.: DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am. J. Hum. Genet. 91, 1082-1087 (2012)
Haack, T.B. et al.: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)
van den Bosch, B.J.* et al.: Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J. Med. Genet. 49, 10-15 (2012)
Danhauser, K. et al.: Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. Mol. Genet. Metab. 103, 161-166 (2011)
Gerards, M.* et al.: Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: New function for an old gene. Brain 134, 210-219 (2011)
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)