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Krenn, M.* et al.: Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. Eur. J. Neurol. 24, 741-747 (2017)
Reinthaler, E.M.* et al.: Mutations in the gene tripeptidyl peptidase II (TPP2) and multiple sclerosis. Mult. Scler. J. 22, 849-849 (2016)
Schulte, E.C. et al.: Rare variants in β-Amyloid Precursor Protein (APP) and Parkinson's disease. Eur. J. Hum. Genet. 23, 1328-1333 (2015)
Schulte, E.C. et al.: Rare variants in LRRK1 and Parkinson's disease. Neurogenetics 15, 49-57 (2014)
Schulte, E.C. et al.: Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome. PLoS ONE 9:e98092 (2014)
Schulte, E.C. et al.: Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. Am. J. Hum. Genet. 95, 85-95 (2014)
Struhal, W.* et al.: VPS35 Parkinson's disease phenotype resembles the sporadic disease. J. Neural Transm. 121, 755-759 (2014)
Esko, T.* et al.: Genetic characterization of Northeastern Italian population isolates in the context of broader European genetic diversity. Eur. J. Hum. Genet. 21, 659-665 (2013)
Hopfner, F. et al.: The role of SCARB2 as susceptibility factor in Parkinson's disease. Mov. Disord. 28, 538-540 (2013)
Schulte, E.C. et al.: Rare variants in PLXNA4 and Parkinson's disease. PLoS ONE 8:e79145 (2013)
Stogmann, E.* et al.: Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2. Brain 136, 1155-1160 (2013)
Schmied, M.C.* et al.: Replication study of Multiple Sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients. Neurogenetics 13, 181-187 (2012)
Schulte, E.C. et al.: Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics 13, 281-285 (2012)
Sharma, M.* et al.: A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J. Med. Genet. 49, 721-726 (2012)
* et al.: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175 (2011)
Winkelmann, J. et al.: Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. PLoS Genet. 7:e1002171 (2011)
* et al.: PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease. Parkinsonism Relat. Disord. 15, 532-534 (2009)
Kemlink, D. et al.: Replication of restless legs syndrome loci in three European populations. J. Med. Genet. 46, 315-318 (2009)
Nelis, M.* et al.: Genetic structure of Europeans: A view from the North-East. PLoS ONE 4:e5472 (2009)
Schlachter, K.* et al.: A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology 72, 974-978 (2009)