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Carecchio, M.* et al.: Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: A de novo PSEN-1 mutation. Neurogenetics 18, 175-178 (2017)
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
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)
Tuschl, K.* et al.: Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat. Commun. 7:11601 (2016)
Venco, P.* et al.: Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+. Front. Genet. 6:185 (2015)
Dusi, S.* et al.: Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 94, 11-22 (2014)
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)
Panteghini, C.* et al.: C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. Semin. Pediatr. Neurol. 19, 75-81 (2012)
Hartig, M.B. et al.: Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 89, 543-550 (2011)