@article{UBHD-67675143, author={Cottam, Nathanael P. and K{\"o}rner, Christian}, title={Dissecting functions of the conserved oligomeric golgi tethering complex using a cell-free assay}, year={2014}, pages={12-21}, language={eng}, issn={1600-0854}, volume={15}, number={1}, note={Gesehen am 17.09.2014}, journal={Traffic}, doi={10.1111/tra.12128}, } @article{UBHD-68742676, author={Cullup, Thomas and Kho, Ay L. and Dionisi-Vici, Carlo and Brandmeier, Birgit and Smith, Frances and Urry, Zoe and Simpson, Michael A. and Yau, Shu and Bertini, Enrico and McClelland, Verity and Al-Owain, Mohammed and K{\"o}lker, Stefan and K{\"o}rner, Christian and Hoffmann, Georg F. and Wijburg, Frits A. and Hoedt, Amber E. ten and Rogers, Curtis and Manchester, David and Miyata, Rie and Hayashi, Masaharu and Said, Elizabeth and Soler, Doriette and Kroisel, Peter M. and Windpassinger, Christian and Filloux, Francis M. and Al-Kaabi, Salwa and Hertecant, Jozef and Del Campo, Miguel and Buk, Stefan and Bodi, Istvan and Goebel, Hans-Hilmar and Sewry, Caroline A. and Abbs, Stephen and Mohammed, Shehla and Josifova, Dragana and Gautel, Mathias and Jungbluth, Heinz}, title={Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy}, year={2013}, pages={83-87}, language={eng}, issn={1546-1718}, volume={45}, number={1}, note={Epub: 2012 Dec 9 ; Gesehen am 31.05.2021}, journal={Nature genetics}, doi={10.1038/ng.2497}, } @article{UBHD-68634307, author={Himmelreich, Nastassja and Kaufmann, Lilian and Steinbeisser, Herbert and K{\"o}rner, Christian and Thiel, Christian}, title={Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling}, year={2015}, pages={1137-1146}, language={eng}, issn={1573-2665}, volume={38}, number={6}, note={Gesehen am 03.09.2020}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9874-0}, } @article{UBHD-68118864, author={Lommel, Mark and K{\"o}rner, Christian and Strahl, Sabine}, title={Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies}, year={2010}, pages={157-164}, language={eng}, issn={1526-632X}, volume={74}, number={2}, note={Gesehen am 12.05.2017}, journal={Neurology}, doi={10.1212/WNL.0b013e3181c919d6}, } @article{UBHD-68285372, author={Taubenschmid, Jasmin and Jost, Markus and Thiel, Christian and K{\"o}rner, Christian}, title={A vital sugar code for ricin toxicity}, year={2017}, pages={1351-1364}, language={eng}, issn={1748-7838}, volume={27}, number={11}, note={Published online 19 September 2017 ; Gesehen am 13.07.2018}, journal={Cell research}, doi={10.1038/cr.2017.116}, } @article{UBHD-68873769, author={Thiel, Christian and Meßner-Schmitt, Dorothea and Hoffmann, Georg F. and K{\"o}rner, Christian}, title={Screening for congenital disorders of glycosylation in the first weeks of life}, year={2013}, pages={887-892}, language={eng}, issn={1573-2665}, volume={36}, number={5}, note={Published online: 19 September 2012 ; Gesehen am 03.02.2022}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-012-9531-9}, } @article{UBHD-68873767, author={Thiel, Christian and K{\"o}rner, Christian}, title={Therapies and therapeutic approaches in congenital disorders of glycosylation}, year={2013}, pages={77-84}, language={eng}, issn={1573-4986}, volume={30}, number={1}, note={Published online: 16 September 2012 ; Gesehen am 03.02.2022}, journal={Glycoconjugate journal}, doi={10.1007/s10719-012-9447-5}, }