Lehrstuhl für Humangenetik

α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies (2018) Prots I, Grosch J, Brazdis RM, Simmnacher K, Veber V, Havlicek S, Hannappel C, et al. Journal article Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Journal article Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior (2018) De Brouwer APM, Abou Jamra R, Koertel N, Soyris C, Polla DL, Safra M, Zisso A, et al. Journal article Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1-Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency (2018) Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Fricke-Otto S, Binder G, et al. Conference contribution Transcriptome-pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS (2018) Krach F, Batra R, Wheeler EC, Vu AQ, Wang R, Hutt K, Rabin SJ, et al. Journal article Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia (2018) Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, Rizo T, et al. Journal article Human SPG11 cerebral organoids reveal cortical neurogenesis impairment (2018) Pérez-Brangulí F, Buchsbaum I, Pozner T, Regensburger M, Fan W, Schray A, Börstler T, et al. Journal article A monocyte gene expression signature in the early clinical course of Parkinson's disease (2018) Schlachetzki J, Prots I, Tao J, Chun HB, Saijo K, Gosselin D, Winner B, et al. Journal article The Brief Case: Cutaneous Sporotrichosis in an Immunocompetent Patient after Travel to Peru (2018) Wolff D, Feldt T, Reifenberger J, Sebald H, Bogdan C Journal article Sporadic Parkinson's disease derived neuronal cells show disease-specific mRNA and small RNA signatures with abundant deregulation of piRNAs (2018) Schulze M, Sommer A, Plotz S, Farrell M, Winner B, Grosch J, Winkler J, Riemenschneider MJ Journal article