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Schormair, B. et al.: Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. Clin. Genet. 93, 603-612 (2017)
Schormair, B. et al.: Identification of novel risk loci for restless legs syndrome: A meta-analysis of genome-wide association studies in individuals of European ancestry: A meta-analysis. Lancet Neurol. 16, 898–907 (2017)
Zech, M. et al.: KMT2B rare missense variants in generalized dystonia. Mov. Disord. 32, 1087-1091 (2017)
Zech, M. et al.: Molecular diversity of combined and complex dystonia: Insights from diagnostic exome sequencing. Neurogenetics 18, 195–205 (2017)
Kemlink, D.* et al.: Restless legs syndrome in Czech pregnant women: An epidemiological and genetic study. J. Sleep Res. 23, 225 (2014)
Faraco, J.* et al.: ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS Genet. 9:e1003270 (2013)
Vávrová, J. et al.: Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study. Sleep Med. 13, 848-851 (2012)
Kornum, B.R.* et al.: Common variants in P2RY11 are associated with narcolepsy. Nat. Genet. 43, 66-71 (2011)
Schulte, E.C.* et al.: Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome. Neurology 76, 1106-1108 (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)
Hallmayer, J.* et al.: Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat. Genet. 41, 708-711 (2009)
Kemlink, D. et al.: Replication of restless legs syndrome loci in three European populations. J. Med. Genet. 46, 315-318 (2009)
Kemlink, D. et al.: Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics 9, 75-82 (2008)
Schormair, B. et al.: PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat. Genet. 40, 946-948 (2008)
Kemlink, D. et al.: Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov. Disord. 22, 207-212 (2007)
Winkelmann, J. et al.: Genetics of restless legs syndrome (RLS: State-of-the-art and future directions). Mov. Disord. 22, (Suppl.18), 449-458 (2007)