Institute of Human Genetics

Intracellular alpha-synuclein affects early maturation of primary oligodendrocyte progenitor cells (2014) Ettle B, Reiprich S, Deußer J, Schlachetzki J, Xiang W, Prots I, Masliah E, et al. Journal article Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome (2014) Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, et al. Journal article Adult hippocampal neurogenesis in Parkinson's disease: impact on neuronal survival and plasticity (2014) Regensburger M, Prots I, Winner B Journal article Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia (2014) Spurdle AB, Couch FJ, Parsons MT, Mcguffog L, Barrowdale D, Bolla MK, Wang Q, et al. Journal article Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA (2014) Earp MA, Kelemen LE, Magliocco AM, Swenerton KD, Chenevix-Trench G, Lu Y, Hein A, et al. Journal article Matrilin-1 is essential for zebrafish development by facilitating collagen II secretion (2014) Neacsu CD, Ko YP, Tagariello A, Karlsen KR, Neiss WF, Paulsson M, Wagener R Journal article Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation (2014) Eberhardt M, Nakajima J, Klinger A, Neacsu C, Hühne K, o' Reilly A, Kist A, et al. Journal article CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients? (2014) Muschler MAN, Lenz B, Hillemacher T, Kraus C, Kornhuber J, Frieling H, Bleich S Journal article A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype (2014) Leal A, Berghoff C, Berghoff M, Rojas-Araya M, Ortiz C, Heuss D, Del Valle G, Rautenstrauß B Journal article Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin (2014) Ekici AB, Hackenbeck T, Moriniere V, Panness A, Büttner M, Uebe S, Janka RM, et al. Journal article