Lehrstuhl für Humangenetik

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders (2014) Reuter M, Sass JO, Leis T, Koehler J, Mayr JA, Feichtinger RG, Rauh M, et al. Journal article Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila (2014) Gregor A, Kramer JM, Van Der Voet M, Schanze I, Uebe S, Donders R, Reis A, et al. Journal article CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration (2014) Schaffer AE, Eggens VRC, Caglayan AO, Reuter M, Scott E, Coufal NG, Silhavy JL, et al. Journal article Thoracic rat spinal cord contusion injury induces remote spinal gliogenesis but not neurogenesis or gliogenesis in the brain (2014) Franz S, Ciatipis M, Pfeifer K, Kierdorf B, Sandner B, Bogdahn U, Blesch A, et al. Journal article Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions (2014) Naumann A, Kraus C, Hoogeveen A, Ramirez CM, Dörfler W Journal article 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 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