Lehrstuhl für Humangenetik

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy (2014) Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Sticht H, et al. Journal article A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency (2014) Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, et al. Journal article Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease (2014) Winner B, Marchetto MC, Winkler J, Gage FH Journal article Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons (2014) Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, et al. Journal article, Original article Accumulation of oligomer-prone ?-synuclein exacerbates synaptic and neuronal degeneration in vivo (2014) Rockenstein E, Nuber S, Overk CR, Ubhi K, Mante M, Patrick C, Adame A, et al. Journal article Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems (2014) Vulto-Van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, De Rocker N, Newhall KJ, Raghavan R, et al. Journal article 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