Jung-Klawitter, Sabine Dr. rer. nat.Universität HeidelbergHeidelberg
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- Assmann, Birgit (3)
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- Tabatabaeifar, Mansoureh (1)
- Trunzo, Roberta (1)
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Publications in heiBIB 
- Julià-Palacios, Natalia: The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency / Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Hor… , May 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: Mai, Seite 447-462
DOI: 10.1002/jimd.12723
- Deininger, Luca: An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids / Luca Deininger, Sabine Jung-Klawitter, Ralf Mikut, Petra Richter, Manuel Fischer, Kianush Karimian-J… , 01 December 2023. - 9 S. : Illustrationen
In: Scientific reports, ISSN 2045-2322. 13(2023), Artikel-ID 21231, Seite 1-9
DOI: 10.1038/s41598-023-48343-7
- Jung-Klawitter, Sabine: Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1 / Sabine Jung-Klawitter, Petra Richter, Yuheng Yuan, Karin Welzel, Marie Kube, Stella Bähr, Alexander … , 12 December 2023. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), online version of record, Seite 1-16
DOI: 10.1002/jimd.12690
- Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 64(2022) vom: Okt., Artikel-ID 102879, Seite 1-5
DOI: 10.1016/j.scr.2022.102879
- Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / JulianSchröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Stef… , 2 August 2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 64(2022), Artikel-ID 102879, Seite 1-5
DOI: 10.1016/j.scr.2022.102879
- Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 24 May 2022. - 4 S.
In: Stem cell research, ISSN 1876-7753. 62(2022), Artikel-ID 102818, Seite 1-4
DOI: 10.1016/j.scr.2022.102818
- Fluhr, Theresa: 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 / Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine … , 18 October 2021. - 5 S.
In: Stem cell research, ISSN 1876-7753. 57(2021), Artikel-ID 102579, Seite 1-5
DOI: 10.1016/j.scr.2021.102579
- Tabatabaeifar, Mansoureh: 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 / Mansoureh Tabatabaeifar, Theresa Leonie Fluhr, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine … , 16 October 2021. - 5 S.
In: Stem cell research, ISSN 1876-7753. 57(2021), Artikel-ID 102573, Seite 1-5
DOI: 10.1016/j.scr.2021.102573
- Brennenstuhl, Heiko: Succinic semialdehyde dehydrogenase deficiency : in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 / Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine … , 13 November 2020. - 15 Seiten
In: International journal of molecular sciences, ISSN 1422-0067. 21(2020), 22, Artikel-ID 8578, Seite 1-15
DOI: 10.3390/ijms21228578
- Didiášová, Miroslava: Succinic semialdehyde dehydrogenase deficiency : an update / Miroslava Didiasova, Antje Banning, Heiko Brennenstuhl, Sabine Jung-Klawitter, Claudio Cinquemani, T… , 19 February 2020. - 26 S.
In: Cells, ISSN 2073-4409. 9(2020,2) Artikel-Nummer 477, 26 Seiten
DOI: 10.3390/cells9020477
- Jung-Klawitter, Sabine: Analysis of catecholamines and pterins in inborn errors of monoamine neurotransmitter metabolism : from past to future / Sabine Jung-Klawitter and Oya Kuseyri Hübschmann, 9 August 2019. - 45 S.
In: Cells, ISSN 2073-4409. 8(2019,8) Artikel-Nummer 867, 45 Seiten
DOI: 10.3390/cells8080867
- Brennenstuhl, Heiko: Inherited disorders of neurotransmitters : classification and practical approaches for diagnosis and treatment / Heiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, Thomas Opladen, 2019. - 13 S.
In: Neuropediatrics, ISSN 1439-1899. 50(2019), 1, Seite 2-14
DOI: 10.1055/s-0038-1673630
- Lenz, Dominic: Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 / Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, … , 22 March 2019
In: Stem cell research, ISSN 1876-7753. 37(2019) Artikel-Nummer 101428, 5 Seiten
DOI: 10.1016/j.scr.2019.101428
- Jung-Klawitter, Sabine: Generation of 2 iPSC clones from a patient with DNAJC12 deficiency : DHMCi003-A and DHMCi003-B / Sabine Jung-Klawitter, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Thomas Opla… , 8 March 2019. - 5 S.
In: Stem cell research, ISSN 1876-7753. 36(2019) Artikel-Nummer 101402, 5 Seiten
DOI: 10.1016/j.scr.2019.101402
- Lenz, Dominic: Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS : DHMCi004-A / Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, … , 11 February 2019. - 4 S.
In: Stem cell research, ISSN 1876-7753. 35(2019) Artikel-Nummer 101398, 4 Seiten
DOI: 10.1016/j.scr.2019.101398
- Jung-Klawitter, Sabine: Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism / Sabine Jung‐Klawitter, Thomas Opladen, 6 July 2018. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 6, Seite 1103-1116
DOI: 10.1007/s10545-018-0225-9
- Jung-Klawitter, Sabine: Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1 / Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen, 24 February 2017. - 4 S.
In: Stem cell research, ISSN 1876-7753. 20(2017), Seite 38-41
DOI: 10.1016/j.scr.2017.02.010
- Jung-Klawitter, Sabine: Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells / Sabine Klawitter, Nina V. Fuchs, Kyle R. Upton, Martin Muñoz-Lopez, Ruchi Shukla, Jichang Wang, Mart… , 8 Jan 2016. - 14 S. : Illustrationen
In: Nature Communications, ISSN 2041-1723. 7(2016), Artikel-ID 10286, Seite 1-14
DOI: 10.1038/ncomms10286
- Friedel, Thorsten: CD30 receptor-targeted lentiviral vectors for human induced pluripotent stem cell-specific gene modification / Thorsten Friedel, Sabine Jung-Klawitter, Attila Sebe, Franziska Schenk, Ute Modlich, Zoltán Ivics, G… , 9 March 2016. - 11 S.
In: Stem Cells and Development, ISSN 1557-8534. 25(2016), 9, Seite 729-739
DOI: 10.1089/scd.2015.0386
- Pan, Yi: CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model / Yi Pan, Nan Shen, Sabine Jung-Klawitter, Christian Betzen, Georg F. Hoffmann, Jörg D. Hoheisel and N… , 27 October 2016. - 7 S.
In: Scientific reports, ISSN 2045-2322. 6(2016) Article number: 35794, 7 Seiten
DOI: 10.1038/srep35794
- Meyer, Thomas J.: The flow of the gibbon LAVA element is facilitated by the LINE-1 retrotransposition machinery / Thomas J. Meyer, Ulrike Held, Kimberly A. Nevonen, Sabine Klawitter, Thomas Pirzer, Lucia Carbone, a… , 15 September 2016. - 17 S.
In: Genome biology and evolution, ISSN 1759-6653. 8(2016), 10, Seite 3209-3225
DOI: 10.1093/gbe/evw224
- Trunzo, Roberta: In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU / Roberta Trunzo, Rosa Santacroce, Nan Shen, Sabine Jung-Klawitter, Angelica Leccese, Giuseppe De Giro… , 13 September 2016. - 6 S.
In: Gene, ISSN 1879-0038. 594(2016), 1, Seite 138-143
DOI: 10.1016/j.gene.2016.09.015
- Opladen, Thomas: The International Working Group on Neurotransmitter related Disorders (iNTD) : a worldwide research project focused on primary and secondary neurotransmitter disorders / Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Edua… , 20 October 2016. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 9(2016), Seite 61-66
DOI: 10.1016/j.ymgmr.2016.09.006
- Jung-Klawitter, Sabine: Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC / Sabine Jung-Klawitter, Nenad Blau, Attila Sebe, Juliane Ebersold, Gudrun Göhring, Thomas Opladen, 26 October 2016. - 4 S.
In: Stem cell research, ISSN 1876-7753. 17(2016), 3, Seite 580-583
DOI: 10.1016/j.scr.2016.10.008
