@article{UBHD-68431129, author={Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Assmann, Birgit and Opladen, Thomas}, title={Inherited disorders of neurotransmitters}, subtitle={classification and practical approaches for diagnosis and treatment}, year={2019}, pages={2-14}, language={eng}, issn={1439-1899}, volume={50}, number={1}, note={29. Oktober 2018 ; Gesehen am 18.09.2019}, journal={Neuropediatrics}, doi={10.1055/s-0038-1673630}, } @article{UBHD-68687473, author={Brennenstuhl, Heiko and Didiášová, Miroslava and Assmann, Birgit and Bertoldi, Mariarita and Molla, Gianluca and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Schr{\"o}ter, Julian and Opladen, Thomas and Tikkanen, Ritva}, title={Succinic semialdehyde dehydrogenase deficiency}, subtitle={in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1}, year={2020}, pages={1-15}, language={eng}, issn={1422-0067 and 1661-6596}, volume={21}, note={Gesehen am 02.02.2021}, journal={International journal of molecular sciences}, doi={10.3390/ijms21228578}, } @article{UBHD-69211369, author={Deininger, Luca and Jung-Klawitter, Sabine and Mikut, Ralf and Richter, Petra and Fischer, Manuel and Karimian-Jazi, Kianush and Breckwoldt, Michael O. and Bendszus, Martin and Heiland, Sabine and Kleesiek, Jens Philipp and Opladen, Thomas and Kuseyri H{\"u}bschmann, Oya and H{\"u}bschmann, Daniel and Schwarz, Daniel}, title={An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids}, year={2023}, pages={1-9}, language={eng}, issn={2045-2322}, volume={13}, number={Artikel-ID 21231}, note={Gesehen am 06.05.2024}, journal={Scientific reports}, doi={10.1038/s41598-023-48343-7}, } @article{UBHD-68570478, author={Didiášová, Miroslava and Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Opladen, Thomas}, title={Succinic semialdehyde dehydrogenase deficiency}, subtitle={an update}, year={2020}, pages={26 S.}, language={eng}, issn={2073-4409}, volume={9(2020}, note={Gesehen am 27.04.2020}, journal={Cells}, doi={10.3390/cells9020477}, } @article{UBHD-68807776, author={Fluhr, Theresa and Tabatabaeifar, Mansoureh and Syring, Hanna and G{\"o}hring, Gudrun and Schaefer, Franz and Jung-Klawitter, Sabine}, title={Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene}, year={2021}, pages={1-5}, language={eng}, issn={1876-7753}, volume={57}, number={Artikel-ID 102579}, note={Gesehen am 02.12.2021}, journal={Stem cell research}, doi={10.1016/j.scr.2021.102579}, } @article{UBHD-68568658, author={Friedel, Thorsten and Jung-Klawitter, Sabine and Sebe, Attila and Schenk, Franziska and Modlich, Ute and Ivics, Zoltán and Schumann, Gerald G. and Buchholz, Christian J. and Schneider, Irene C.}, title={CD30 receptor-targeted lentiviral vectors for human induced pluripotent stem cell-specific gene modification}, year={2016}, pages={729-739}, language={eng}, issn={1557-8534}, volume={25}, number={9}, note={Gesehen am 21.04.2020}, journal={Stem Cells and Development}, doi={10.1089/scd.2015.0386}, } @article{UBHD-69240421, author={Julià-Palacios, Natalia and Kuseyri H{\"u}bschmann, Oya and Olivella, Mireia and Pons, Roser and Horvath, Gabriella and L{\"u}cke, Thomas and Fung, Cheuk-Wing and Wong, Suet-Na and Cortès-Saladelafont, Elisenda and Rovira-Remisa, M. Mar and Yıldız, Yılmaz and Mercimek-Andrews, Saadet and Assmann, Birgit and Stevanović, Galina and Manti, Filippo and Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Jeltsch, Kathrin and Sivri, H. Serap and Garbade, Sven and García-Cazorla, Àngels and Opladen, Thomas}, title={The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency}, year={2024}, pages={447-462}, language={eng}, issn={1573-2665}, volume={47}, number={3 vom: Mai}, note={Zuerst ver{\"o}ffentlicht: 18. M{\"a}rz 2024 ; Gesehen am 05.08.2024}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12723}, } @article{UBHD-68441603, author={Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya}, title={Analysis of catecholamines and pterins in inborn errors of monoamine neurotransmitter metabolism}, subtitle={from past to future}, year={2019}, pages={45 S.}, language={eng}, issn={2073-4409}, volume={8(2019}, note={Gesehen am 17.10.2019}, journal={Cells}, doi={10.3390/cells8080867}, } @article{UBHD-68098197, author={Jung-Klawitter, Sabine and Blau, Nenad and Opladen, Thomas}, title={Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1}, year={2017}, pages={38-41}, language={eng}, issn={1876-7753}, volume={20}, note={Gesehen am 21.03.2017}, journal={Stem cell research}, doi={10.1016/j.scr.2017.02.010}, url={http://dx.doi.org/10.1016/j.scr.2017.02.010}, library={UB}, } @article{UBHD-68067129, author={Jung-Klawitter, Sabine and Blau, Nenad and Opladen, Thomas}, title={Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC}, year={2016}, pages={580-583}, language={eng}, issn={1876-7753}, volume={17}, number={3}, note={Gesehen am 21.12.2016}, journal={Stem cell research}, doi={10.1016/j.scr.2016.10.008}, url={http://dx.doi.org/10.1016/j.scr.2016.10.008}, library={UB}, } @article{UBHD-68379590, author={Jung-Klawitter, Sabine and Opladen, Thomas}, title={Generation of 2 iPSC clones from a patient with DNAJC12 deficiency}, subtitle={DHMCi003-A and DHMCi003-B}, year={2019}, pages={5 S.}, language={eng}, issn={1876-7753}, volume={36(2019) Artikel-Nummer 101402}, number={5 Seiten}, note={Gesehen am 10.04.2019}, journal={Stem cell research}, doi={10.1016/j.scr.2019.101402}, url={https://doi.org/10.1016/j.scr.2019.101402}, library={UB}, } @article{UBHD-68451976, author={Jung-Klawitter, Sabine and Opladen, Thomas}, title={Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism}, year={2018}, pages={1103-1116}, language={eng}, issn={1573-2665}, volume={41}, number={6}, note={Gesehen am 07.11.2019}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-018-0225-9}, } @article{UBHD-68576322, author={Jung-Klawitter, Sabine and Fuchs, Nina V. and Upton, Kyle R. and Muñoz-Lopez, Martin and Shukla, Ruchi and Wang, Jichang and Garcia-Cañadas, Marta and Lopez-Ruiz, Cesar and Gerhardt, Daniel J. and Sebe, Attila and Grabundzija, Ivana and Merkert, Sylvia and Gerdes, Patricia and Pulgarin, J. Andres and Bock, Anja and Held, Ulrike and Witthuhn, Anett and Haase, Alexandra and Sarkadi, Balázs and L{\"o}wer, Johannes and Wolvetang, Ernst J. and Martin, Ulrich and Ivics, Zoltán and Izsvák, Zsuzsanna and Garcia-Perez, Jose L. and Faulkner, Geoffrey J. and Schumann, Gerald G.}, title={Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells}, year={2016}, pages={1-14}, language={eng}, issn={2041-1723}, volume={7}, number={Artikel-ID 10286}, note={Gesehen am 13.04.2020}, journal={Nature Communications}, doi={10.1038/ncomms10286}, } @article{UBHD-69199807, author={Jung-Klawitter, Sabine and Richter, Petra and Yuan, Yuheng and Welzel, Karin and Kube, Marie and B{\"a}hr, Stella and Leibner, Alexander and Flory, Egbert and Opladen, Thomas}, title={Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1}, year={2023}, pages={1-16}, language={eng}, issn={1573-2665}, number={online version of record}, note={Gesehen am 11.04.2024}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12690}, } @article{UBHD-68373861, author={Lenz, Dominic and Staufner, Christian and W{\"a}chter, Selina and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Hoffmann, Georg F. and Jung-Klawitter, Sabine}, title={Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS}, subtitle={DHMCi004-A}, year={2019}, pages={4 S.}, language={eng}, issn={1876-7753}, volume={35(2019) Artikel-Nummer 101398}, number={4 Seiten}, note={Gesehen am 28.03.2019}, journal={Stem cell research}, doi={10.1016/j.scr.2019.101398}, url={https://doi.org/10.1016/j.scr.2019.101398}, library={UB}, } @article{UBHD-68393189, author={Lenz, Dominic and Staufner, Christian and W{\"a}chter, Selina and Hagedorn, Maike and Ebersold, Juliane and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Hoffmann, Georg F. and Jung-Klawitter, Sabine}, title={Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1}, year={2019}, language={eng}, issn={1876-7753}, volume={37(2019) Artikel-Nummer 101428}, number={5 Seiten}, note={Gesehen am 27.05.2019}, journal={Stem cell research}, doi={10.1016/j.scr.2019.101428}, url={https://doi.org/10.1016/j.scr.2019.101428}, library={UB}, } @article{UBHD-68192868, author={Meyer, Thomas J. and Jung-Klawitter, Sabine}, title={The flow of the gibbon LAVA element is facilitated by the LINE-1 retrotransposition machinery}, year={2016}, pages={3209-3225}, language={eng}, issn={1759-6653}, volume={8}, number={10}, note={Gesehen am 21.11.2017}, journal={Genome biology and evolution}, doi={10.1093/gbe/evw224}, } @article{UBHD-68067142, author={Opladen, Thomas and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Jeltsch, Kathrin}, title={The International Working Group on Neurotransmitter related Disorders (iNTD)}, subtitle={a worldwide research project focused on primary and secondary neurotransmitter disorders}, year={2016}, pages={61-66}, language={eng}, issn={2214-4269}, volume={9}, note={Gesehen am 21.12.2016}, journal={Molecular genetics and metabolism reports}, doi={10.1016/j.ymgmr.2016.09.006}, url={http://dx.doi.org/10.1016/j.ymgmr.2016.09.006}, library={UB}, } @article{UBHD-68210743, author={Pan, Yi and Shen, Nan and Jung-Klawitter, Sabine and Betzen, Christian and Hoffmann, Georg F. and Blau, Nenad}, title={CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model}, year={2016}, pages={7 S.}, language={eng}, issn={2045-2322}, volume={6(2016) Article number: 35794}, number={7 Seiten}, note={Gesehen am 17.01.2018}, journal={Scientific reports}, doi={10.1038/srep35794}, } @article{UBHD-69101725, author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine}, title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy}, year={2022}, pages={1-5}, language={eng}, issn={1876-7753}, volume={64(2022) vom: Okt.}, number={Artikel-ID 102879}, note={Gesehen am 27.07.2023}, journal={Stem cell research}, doi={10.1016/j.scr.2022.102879}, url={https://doi.org/10.1016/j.scr.2022.102879}, library={UB}, } @article{UBHD-68976684, author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}ring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine}, title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy}, year={2022}, pages={1-5}, language={eng}, issn={1876-7753}, volume={64}, number={Artikel-ID 102879}, note={Online verf{\"u}gbar 29 July 2022, Version des Artikels 2 August 2022 ; Gesehen am 20.10.2022}, journal={Stem cell research}, doi={10.1016/j.scr.2022.102879}, } @article{UBHD-68938289, author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine}, title={Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy}, year={2022}, pages={1-4}, language={eng}, issn={1876-7753}, volume={62}, number={Artikel-ID 102818}, note={Gesehen am 06.07.2022}, journal={Stem cell research}, doi={10.1016/j.scr.2022.102818}, url={https://doi.org/10.1016/j.scr.2022.102818}, library={UB}, } @article{UBHD-68807081, author={Tabatabaeifar, Mansoureh and Fluhr, Theresa Leonie and Syring, Hanna and G{\"o}hring, Gudrun and Schaefer, Franz and Jung-Klawitter, Sabine}, title={Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene}, year={2021}, pages={1-5}, language={eng}, issn={1876-7753}, volume={57}, number={Artikel-ID 102573}, note={Gesehen am 01.12.2021}, journal={Stem cell research}, doi={10.1016/j.scr.2021.102573}, } @article{UBHD-68163310, author={Trunzo, Roberta and Shen, Nan and Jung-Klawitter, Sabine and Blau, Nenad}, title={In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU}, year={2016}, pages={138-143}, language={eng}, issn={1879-0038}, volume={594}, number={1}, note={Gesehen am 07.09.2017}, journal={Gene}, doi={10.1016/j.gene.2016.09.015}, }