@article{UBHD-68114432, author={Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity}, year={2017}, language={eng}, issn={1750-1172}, volume={12(2017) Artikel-Nummer 77}, number={13 Seiten}, note={Gesehen am 281.04.2017}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-017-0612-6}, url={http://dx.doi.org/10.1186/s13023-017-0612-6}, library={UB}, } @book{UBHD-68113351, author={Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity}, publisher={BioMed Central}, address={London}, year={2017}, pages={1 Online-Ressource (13 Seiten)}, language={eng}, note={Aus: Orphanet Journal of Rare Diseases, 12 (2017), Nr. 77. pp. 1-13. ISSN 1750-1172}, doi={10.1186/s13023-017-0612-6}, url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-228746}, library={UB}, } @article{UBHD-68408602, author={Boy, Nikolas and Garbade, Sven and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1}, year={2019}, pages={117-127}, language={eng}, issn={1573-2665}, volume={42}, number={1}, note={Gesehen am 15.07.2019}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12033}, } @book{UBHD-68447579, author={Boy, Nikolas and Garbade, Sven and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1}, year={2019}, pages={117-127}, language={eng}, issn={1573-2665}, note={Gesehen am 29.10.2019}, doi={10.1002/jimd.12033}, } @article{UBHD-68257733, author={Boy, Nikolas and Heringer-Seifert, Jana and Assmann, Birgit and Burgard, Peter and Harting, Inga and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and Opladen, Thomas and Posset, Roland and Sahm, Katja and K{\"o}lker, Stefan}, title={Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I}, subtitle={second revision}, year={2017}, pages={75-101}, language={eng}, issn={1573-2665}, volume={40}, number={1}, note={Published online: 16 November 2016 ; Gesehen am 05.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-016-9999-9}, } @article{UBHD-69106990, author={Boy, Nikolas and Mohr, Alexander and Garbade, Sven and Freisinger, Peter and Heringer-Seifert, Jana and Seitz, Angelika and K{\"o}lker, Stefan and Harting, Inga}, title={Subdural hematoma in glutaric aciduria type 1}, subtitle={high excreters are prone to incidental SDH despite newborn screening}, year={2021}, pages={1343-1352$10}, language={eng}, issn={1573-2665}, volume={44}, number={6}, note={Gesehen am 07.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12436}, url={https://doi.org/10.1002/jimd.12436}, library={UB}, } @article{UBHD-68467201, author={Garbade, Sven and Boy, Nikolas and Heringer-Seifert, Jana and K{\"o}lker, Stefan and Harting, Inga}, title={Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI}, year={2018}, pages={269-275}, language={eng}, issn={1439-1899}, volume={49}, number={04}, note={Gesehen am 12.12.2019}, journal={Neuropediatrics}, doi={10.1055/s-0038-1660475}, } @article{UBHD-67841112, author={Haack, Tobias and Kotzaeridou, Urania and Hoffmann, Georg F. and Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter}, title={Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy}, year={2015}, pages={163-169}, language={eng}, issn={1537-6605}, volume={97}, number={1}, note={Gesehen am 17.02.2021}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2015.05.009}, } @article{UBHD-69294322, author={Hammann, Nicole Irene and Lenz, Dominic and Bianzano, Alyssa and Husain, Ralf A. and Forman, Eva and Bernstein, Jonathan A. and Dattner, Tal and Engelen, Marc and Hanson-Kahn, Andrea K. and Isidor, Bertrand and Kotzaeridou, Urania and Tietze, Anna and Trollmann, Regina and Weiß, Claudia and Wolffenbuttel, Bruce H. R. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Crushell, Ellen and Staufner, Christian and Mohr, Alexander and Harting, Inga}, title={MRI in LARS1 deficiency}, subtitle={spectrum, patterns, and correlation with acute neurological deterioration}, year={2024}, pages={1028-1046}, language={eng}, issn={1573-2665}, volume={47}, number={5}, note={Ver{\"o}ffentlicht: 01 July 2024 ; Gesehen am 27.01.2025}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12764}, } @article{UBHD-68068842, author={Harting, Inga and Boy, Nikolas and Heringer-Seifert, Jana and Seitz, Angelika and Bendszus, Martin and K{\"o}lker, Stefan}, title={1 H-MRS in glutaric aciduria type 1}, subtitle={impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites}, year={2015}, pages={829-838}, language={eng}, issn={1573-2665}, volume={38}, number={5}, note={Gesehen am 03.01.2017 ; Im Titel ist "1" in 1 H-MRS hochgestellt}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9826-8}, } @article{UBHD-69329029, author={Harting, Inga and Garbade, Sven and Roosendaal, Stefan D. and Fels-Palesandro, Hannah and Raudonat, Clara and Mohr, Alexander and Wolf, Nicole}, title={Age-appropriate or delayed myelination?}, subtitle={scoring myelination in routine clinical MRI}, year={2024}, pages={59-66}, language={eng}, issn={1532-2130}, volume={52(2024) vom: Sept.}, note={Online ver{\"o}ffentlicht am 27. Juli 2024, Artikelversion: 3. August 2024 ; Gesehen am 08.04.2025}, journal={European journal of paediatric neurology}, doi={10.1016/j.ejpn.2024.07.010}, } @article{UBHD-68949874, author={Harting, Inga and Kotzaeridou, Urania and Poretti, A. and Seitz, Angelika and Pietz, Joachim and Bendszus, Martin and Boltshauser, E.}, title={Interpeduncular heterotopia in Joubert Syndrome}, subtitle={a previously undescribed MR finding}, year={2011}, pages={1286-1289}, language={eng}, issn={1936-959X}, volume={32}, number={7}, note={Gesehen am 03.08.2022}, journal={American journal of neuroradiology}, doi={10.3174/ajnr.A2488}, } @book{UBHD-9829778, author={Harting, Inga}, title={Mitochondriale Genexpression unter Hypoxie}, year={1998}, pages={109 Bl.}, language={ger}, school={Heidelberg, Univ., Diss., 1998 (Nicht f. d. Austausch)}, library={UB [Signatur: 98 U 820]}, } @article{UBHD-68495533, author={Harting, Inga and Karch, Stephanie and Moog, Ute and Seitz, Angelika and Pouwels, Petra J. W. and Wolf, Nicole}, title={Oculodentodigital dysplasia}, subtitle={a hypomyelinating leukodystrophy with a characteristic MRI pattern of brain stem involvement}, year={2019}, pages={903-907}, language={eng}, issn={1936-959X}, volume={40}, number={5}, note={Gesehen am 03.03.2020}, journal={American journal of neuroradiology}, doi={10.3174/ajnr.A6051}, } @book{UBHD-66969225, author={Harting, Inga}, title={Zur Differentialdiagnose von Erkrankungen der weißen Hirnsubstanz}, subtitle={charakteristische Muster in der Magnetresonanztomographie und 1 H-Magnetresonanzspektroskopie}, year={2010}, pages={Getr. Z{\"a}hlung}, language={ger}, note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze}, school={Heidelberg, Univ., Habil.-Schr., 2010}, library={UB [Signatur: 2010 U 1054]}, } @article{UBHD-69069386, author={Heringer-Seifert, Jana and Boy, Nikolas and Ensenauer, Regina and Assmann, Birgit and Zschocke, Johannes and Harting, Inga and L{\"u}cke, Thomas and Maier, Esther M. and M{\"u}hlhausen, Chris and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter and K{\"o}lker, Stefan}, title={Use of guidelines improves the neurological outcome in glutaric aciduria type I}, year={2010}, pages={743-752}, language={eng}, issn={1531-8249}, volume={68}, number={5 vom: Nov.}, note={First published: 29 October 2010 ; Gesehen am 26.04.2023}, journal={Annals of neurology}, doi={10.1002/ana.22095}, } @article{UBHD-68235495, author={Kopajtich, Robert and Breuer, Maximilian and Harting, Inga and Kotzaeridou, Urania and K{\"o}lker, Stefan and Sauer, Sven and Carl, Matthias and Hoffmann, Georg F. and Staufner, Christian}, title={Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy}, year={2016}, pages={414-422}, language={eng}, issn={1537-6605}, volume={99}, number={2}, note={Gesehen am 22.03.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2016.05.027}, } @article{UBHD-68464828, author={Kronlage, Moritz and M{\"u}nch, Véronique and Schwarz, Daniel and Godel, Tim and Harting, Inga and Heiland, Sabine and Bendszus, Martin and B{\"a}umer, Philipp}, title={Prevalence of fascicular hyperintensities in peripheral nerves of healthy individuals with regard to cerebral white matter lesions}, year={2019}, pages={3480-3487}, language={eng}, issn={1432-1084 and 1613-3757}, volume={29}, number={7}, note={Gesehen am 06.12.2019}, journal={European radiology}, doi={10.1007/s00330-019-06145-4}, } @article{UBHD-69107870, author={Kuseyri H{\"u}bschmann, Oya and Mohr, Alexander and Friedman, Jennifer and Manti, Filippo and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Mercimek-Andrews, Saadet and Yildiz, Yilmaz and Pons, Roser and Kulhánek, Jan and Oppebøen, Mari and Koht, Jeanette Aimee and Podzamczer-Valls, Inés and Domingo-Jimenez, Rosario and Ibáñez, Salvador and Alcoverro-Fortuny, Oscar and Gómez-Alemany, Teresa and de Castro, Pedro and Alfonsi, Chiara and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Guder, Philipp and Santer, René and Honzík, Tomáš and Hoffmann, Georg F. and Garbade, Sven and Sivri, H. Serap and Leuzzi, Vincenzo and Jeltsch, Kathrin and García-Cazorla, Angeles and Opladen, Thomas and Harting, Inga}, title={Brain MR patterns in inherited disorders of monoamine neurotransmitters}, subtitle={an analysis of 70 patients}, year={2021}, pages={1070-1082}, language={eng}, issn={1573-2665}, volume={44}, number={4 vom: Juli}, note={Online ver{\"o}ffentlicht: 14. Januar 2021 ; Gesehen am 09.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12360}, url={https://doi.org/10.1002/jimd.12360}, library={UB}, } @article{UBHD-68494004, author={Lenz, Dominic and Thiel, Christian and Straub, Beate Katharina and Harting, Inga and Dimitrov, Bianca and Kotzaeridou, Urania and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian}, title={SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)}, year={2018}, pages={1255-1265}, language={eng}, issn={1530-0366}, volume={20}, number={10}, note={Gesehen am 27.02.2020}, journal={Genetics in medicine}, doi={10.1038/gim.2017.260}, } @article{UBHD-69091802, author={Meißner, Julia and Schmitt, Michael and Andrulis, Mindaugas and Schweizer, Leonille and Dietrich, Sascha and Alber, Bettina and Harting, Inga and Kurz, Felix T. and Martens, Uwe Marc and Ho, Anthony Dick and M{\"u}ller-Tidow, Carsten and Dreger, Peter}, title={Cure of intravascular NK/T-cell lymphoma of the central nervous system by allogeneic hematopoietic cell transplantation}, year={2022}, pages={1451-1454}, language={eng}, issn={1476-5365}, volume={57}, number={9}, note={Gesehen am 30.06.2023}, journal={Bone marrow transplantation}, doi={10.1038/s41409-022-01734-2}, url={https://doi.org/10.1038/s41409-022-01734-2}, library={UB}, } @article{UBHD-67672315, author={Opladen, Thomas and Sengupta, Devjani and Moog, Ute and Fischer, Christine and B{\"u}rger, Friederike and Haas, Dorothea and Harting, Inga and Hoffmann, Georg F.}, title={Aspartylglucosaminuria}, subtitle={unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family}, year={2014}, pages={36-42}, language={eng}, issn={1708-8283}, volume={29}, number={1}, note={Gesehen am 10.09.2014}, journal={Journal of child neurology}, doi={10.1177/0883073812469049}, } @article{UBHD-68739397, author={Pelletier, Félixe and Harting, Inga and Kotzaeridou, Urania and Rating, Dietz}, title={Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C}, year={2021}, pages={e660-e674}, language={eng}, issn={1945-7197}, volume={106}, number={2}, note={Corrected and typeset: 08 December 2020 ; Published: 01 October 2020 ; Gesehen am 19.05.2021}, journal={The journal of clinical endocrinology & metabolism}, doi={10.1210/clinem/dgaa700}, } @article{UBHD-68717254, author={Platten, Michael and Bunse, Lukas and Wick, Antje and Bunse, Theresa and Le Cornet, Lucian and Harting, Inga and Sahm, Felix and Sanghvi, Khwab and Tan, Chin Leng and Poschke, Isabel and Green, Edward and Justesen, Sune and Behrens, Geoffrey A. and Breckwoldt, Michael O. and Freitag, Angelika and Rother, Lisa-Marie and Schmitt, Anita and Schnell, Oliver and Hense, J{\"o}rg and Misch, Martin and Krex, Dietmar and Stevanovic, Stefan and Tabatabai, Ghazaleh and Steinbach, Joachim P. and Bendszus, Martin and Deimling, Andreas von and Schmitt, Michael and Wick, Wolfgang}, title={A vaccine targeting mutant IDH1 in newly diagnosed glioma}, year={2021}, pages={463-468}, language={eng}, issn={1476-4687}, volume={592}, note={Gesehen am 26.03.2021}, journal={Nature}, doi={10.1038/s41586-021-03363-z}, } @article{UBHD-68675950, author={Schulze, Andreas and Bachert, Peter and Schlemmer, Heinz-Peter and Harting, Inga and Polster, Tilman and Salomons, Gajja S. and Verhoeven, Nanda M. and Jakobs, Cornelis and Fowler, Brian and Hoffmann, Georg F. and Mayatepek, Ertan}, title={Lack of creatine in muscle and brain in an adult with GAMT deficiency}, year={2003}, pages={248-251}, language={eng}, issn={1531-8249}, volume={53}, number={2}, note={Gesehen am 22.12.2020}, journal={Annals of neurology}, doi={10.1002/ana.10455}, } @article{UBHD-69307525, author={Selt, Florian and Tilburg, Cornelis M. van and Bison, Brigitte and Sievers, Philipp and Harting, Inga and Ecker, Jonas and Pajtler, Kristian W. and Sahm, Felix and Bahr, Annabelle and Simon, Michèle and Jones, David T. W. and Well, Lennart and Mautner, Victor-Felix and Capper, David and Hernáiz Driever, Pablo and Gnekow, Astrid and Pfister, Stefan and Witt, Olaf and Milde, Till}, title={Response to trametinib treatment in progressive pediatric low-grade glioma patients}, year={2020}, pages={499-510}, language={eng}, issn={1573-7373}, volume={149(2020) vom: Sept.}, note={Gesehen am 24.02.2025}, journal={Journal of neuro-oncology}, doi={10.1007/s11060-020-03640-3}, } @article{UBHD-68356925, author={Staufner, Christian and K{\"o}lker, Stefan and Hoffmann, Georg F. and Harting, Inga}, title={MRI and 1H-MRS in adenosine kinase deficiency}, year={2016}, pages={697-703}, language={eng}, issn={1432-1920}, volume={58}, number={7}, note={Gesehen am 11.02.2019 ; Im Titel ist "1" im 1H-MRS hochgestellt}, journal={Neuroradiology}, doi={10.1007/s00234-016-1676-z}, } @article{UBHD-68576374, author={Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Lenz, Dominic and Hoffmann, Georg F.}, title={Recurrent acute liver failure due to NBAS deficiency}, subtitle={phenotypic spectrum, disease mechanisms, and therapeutic concepts}, year={2016}, pages={3-16}, language={eng}, issn={1573-2665}, volume={39}, number={1}, note={Published online: 5 November 2015 ; Gesehen am 13.05.2020}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9896-7}, } @article{UBHD-68747001, author={Tilburg, Cornelis M. van and Witt, Ruth and Heiss, Melanie and Pajtler, Kristian Wilfried and Plass, Christoph and Poschke, Isabel and Platten, Michael and Harting, Inga and Sedlaczek, Oliver and Freitag, Angelika and Meyrath, David and Taylor, Lenka A. and Balasubramanian, Gnana Prakash and J{\"a}ger, Natalie and Pfaff, Elke and Jones, Barbara Christine and Milde, Till and Pfister, Stefan and Jones, David T. W. and Kopp-Schneider, Annette and Witt, Olaf}, title={INFORM2 NivEnt}, subtitle={the first trial of the INFORM2 biomarker driven phase I/II trial series : the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies}, year={2020}, pages={1-12}, language={eng}, issn={1471-2407}, volume={20(2020) vom: Juni}, number={Artikel-ID 523}, note={Gesehen am 10.06.2021}, journal={BMC cancer}, doi={10.1186/s12885-020-07008-8}, } @article{UBHD-68441022, author={Vollmuth, Philipp and Pfl{\"u}ger, Irada and Petersen, Jens and Neuberger, Ulf and Brugnara, Gianluca and Schell, Marianne and Keßler, Tobias and Foltyn-Dumitru, Martha and Harting, Inga and Sahm, Felix and Prager, Marcel and Nowosielski, Martha and Wick, Antje and Radbruch, Alexander and Debus, J{\"u}rgen and Schlemmer, Heinz-Peter and Heiland, Sabine and Platten, Michael and Deimling, Andreas von and Wick, Wolfgang and Bendszus, Martin and Maier-Hein, Klaus H.}, title={Automated quantitative tumour response assessment of MRI in neuro-oncology with artificial neural networks}, subtitle={a multicentre, retrospective study}, year={2019}, pages={728-740}, language={eng}, issn={1474-5488}, volume={20}, number={5}, note={Gesehen am 16.10.2019}, journal={The lancet}, doi={10.1016/S1470-2045(19)30098-1}, } @article{UBHD-68286996, author={Vrij-van den Bos, Suzanne and Harting, Inga}, title={4H leukodystrophy}, subtitle={a brain magnetic resonance imaging scoring system}, year={2017}, pages={152-160}, language={eng}, issn={1439-1899}, volume={48}, number={03}, note={Publikationsdatum: 01.M{\"a}rz 2017 (eFirst) ; Gesehen am 19.07.2018}, journal={Neuropediatrics}, doi={10.1055/s-0037-1599141}, } @article{UBHD-68197492, author={Wick, Wolfgang and Bendszus, Martin and Sahm, Felix and Harting, Inga and Deimling, Andreas von and Platten, Michael}, title={Lomustine and bevacizumab in progressive glioblastoma}, year={2017}, pages={1954-1963}, language={eng}, issn={1533-4406}, volume={377}, number={20}, note={Gesehen am 04.12.2017}, journal={The New England journal of medicine}, doi={10.1056/NEJMoa1707358}, } @article{UBHD-67834707, author={Wick, Wolfgang and Combs, Stephanie and Wiestler, Benedikt and Schließer, Maximilian Georg and Deimling, Andreas von and Harting, Inga and Debus, J{\"u}rgen and Hartmann, Christian and Platten, Michael and Bendszus, Martin}, title={A phase II, randomized, study of weekly APG101+reirradiation versus reirradiation in progressive glioblastoma}, year={2014}, pages={6304-6313}, language={eng}, issn={1557-3265}, volume={20}, number={24}, note={Gesehen am 23.06.2015}, journal={Clinical cancer research}, doi={10.1158/1078-0432.CCR-14-0951-T}, } @article{UBHD-68713625, author={Wolf, Nicole and Harting, Inga and Boltshauser, E. and Wiegand, G. and Koch, Martin Jean and Schmitt-Mechelke, T. and Martin, E. and Zschocke, Johannes and Uhlenberg, B. and Hoffmann, Georg F. and Weber, L. and Ebinger, Friedrich and Rating, Dietz}, title={Leukoencephalopathy with ataxia, hypodontia, and hypomyelination}, year={2005}, pages={1461-1464}, language={eng}, issn={1526-632X}, volume={64}, number={8}, note={Gesehen am 17.03.2021}, journal={Neurology}, doi={10.1212/01.WNL.0000158615.56071.E3}, } @article{UBHD-69107381, author={Yıldız, Yılmaz and Kuseyri H{\"u}bschmann, Oya and Akg{\"o}z Karaosmanoğlu, Ayça and Manti, Filippo and Karaca, Meryem and Schwartz, Ida Vanessa and Pons, Roser and López-Laso, Eduardo and Palacios, Natalia Alexandra Julia and Porta, Francesco and Kavecan, Ivana and Balcı, Mehmet Cihan and Dy-Hollins, Marisela E. and Wong, Suet-Na and Oppebøen, Mari and Medeiros, Leonardo Simão and de Paula, Leila Cristina Pedroso and García-Cazorla, Angeles and Hoffmann, Georg F. and Jeltsch, Kathrin and Leuzzi, Vincenzo and G{\"o}kçay, G{\"u}lden and H{\"u}bschmann, Daniel and Harting, Inga and {\"O}z{\"o}n, Z. Alev and Sivri, Serap and Opladen, Thomas}, title={Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism}, year={2023}, pages={1-16}, language={eng}, issn={1573-2665}, note={Gesehen am 08.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12658}, url={https://doi.org/10.1002/jimd.12658}, library={UB}, }