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Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum. Mutat., accepted (2019)
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
Vill, K.* et al.: SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum. Genet. 137, 911-919 (2018)
Haack, T.B. et al.: Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am. J. Hum. Genet. 99, 735-743 (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)
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)
Ghezzi, D.* et al.: SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat. Genet. 41, 654-656 (2009)
Gempel, K.* et al.: The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130, 2037-2044 (2007)
Horvath, R.* et al.: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-1684 (2006)
Horvath, R.* et al.: Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J. Neurol. Neurosurg. Psychiatr. 77, 74-76 (2006)