PuSH - Publication Server of Helmholtz Zentrum München

6 Records found.
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1.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
2.
Dand, N.* et al.: Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling. Hum. Mol. Genet. 26, 4301-4313 (2017)
3.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
4.
Tuschl, K.* et al.: Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat. Commun. 7:11601 (2016)
5.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
6.
Cappello, S. et al.: Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat. Genet. 45, 1300-1308 (2013)