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  1. Opladen, Thomas [Author]; Jung-Klawitter, Sabine [Author]; Kuseyri Hübschmann, Oya [Author]; Jeltsch, Kathrin [Author]

    The International Working Group on Neurotransmitter related Disorders (iNTD) : a worldwide research project focused on primary and secondary neurotransmitter disorders

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    20 October 2016

    Published in: Molecular genetics and metabolism reports ; 9(2016), Seite 61-66

  2. Deininger, Luca [Author]; Jung-Klawitter, Sabine [Author]; Mikut, Ralf [Author]; Richter, Petra [Author]; Fischer, Manuel [Author]; Karimian-Jazi, Kianush [Author]; Breckwoldt, Michael O. [Author]; Bendszus, Martin [Author]; Heiland, Sabine [Author]; Kleesiek, Jens Philipp [Author]; Opladen, Thomas [Author]; Kuseyri Hübschmann, Oya [Author]; Hübschmann, Daniel [Author]; Schwarz, Daniel [Author]

    An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids

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    01 December 2023

    Published in: Scientific reports ; 13(2023), Artikel-ID 21231, Seite 1-9

  3. Deininger, Luca [Author]; Jung-Klawitter, Sabine [Author]; Mikut, Ralf [Author]; Richter, Petra [Author]; Fischer, Manuel [Author]; Karimian-Jazi, Kianush [Author]; Breckwoldt, Michael O. [Author]; Bendszus, Martin [Author]; Heiland, Sabine [Author]; Kleesiek, Jens [Author]; Opladen, Thomas [Author]; Hübschmann, Oya Kuseyri [Author]; Hübschmann, Daniel [Author]; Schwarz, Daniel [Author]

    An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids

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    Nature Research, 2023-12-04

    Published in: Scientific Reports, 13, 21231 ; ISSN: 2045-2322

  4. Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]

    Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients

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    July 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082

  5. Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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    20 September 2021

    Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13

  6. Opladen, Thomas [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Call, Debora [Author]; Green, Kim [Author]; Schara, Ulrike [Author]; Rascher, Wolfgang [Author]; Hövel, Annegret [Author]; Assmann, Birgit [Author]; Kölker, Stefan [Author]; Westhoff, Jens [Author]; Walter, Magdalena [Author]; Ziegler, Andreas [Author]; Hoffmann, Georg F. [Author]; Kiening, Karl [Author]

    Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec

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    29 June 2021

    Published in: Monatsschrift Kinderheilkunde ; 169(2021), 8, Seite 738-747

  7. Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

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    November 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502

  8. Brennenstuhl, Heiko; Didiasova, Miroslava; Assmann, Birgit; Bertoldi, Mariarita; Molla, Gianluca; Jung-Klawitter, Sabine; Kuseyri Hübschmann, Oya; Schröter, Julian; Opladen, Thomas; Tikkanen, Ritva

    Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

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    MDPI AG, 2020

    Published in: International Journal of Molecular Sciences

  9. Deininger, Luca; Jung-Klawitter, Sabine; Mikut, Ralf; Richter, Petra; Fischer, Manuel; Karimian-Jazi, Kianush; Breckwoldt, Michael O.; Bendszus, Martin; Heiland, Sabine; Kleesiek, Jens; Opladen, Thomas; Kuseyri Hübschmann, Oya; Hübschmann, Daniel; Schwarz, Daniel

    An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids

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    Springer Science and Business Media LLC, 2023

    Published in: Scientific Reports

  10. Roubertie, Agathe; Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Flint, Lisa; Willemsen, Michel A.; Leuzzi, Vincenzo; Cazorla, Angels Garcia; Kurian, Manju A.; François‐Heude, Marie Céline; Hwu, Paul; Zeev, Bruria Ben; Kiening, Karl; Roujeau, Thomas; Pons, Roser; Pearson, Toni S.

    Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up

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    Wiley, 2023

    Published in: Journal of Inherited Metabolic Disease

  11. Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Call, Debora; Green, Kim; Schara, Ulrike; Rascher, Wolfgang; Hövel, Annegret; Assmann, Birgit; Kölker, Stefan; Westhoff, Jens H.; Walter, Magdalena; Ziegler, Andreas; Hoffmann, Georg F.; Kiening, Karl

    Erratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)

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    Springer Science and Business Media LLC, 2022

    Published in: Monatsschrift Kinderheilkunde

  12. Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Call, Debora; Green, Kim; Schara, Ulrike; Rascher, Wolfgang; Hövel, Annegret; Assmann, Birgit; Kölker, Stefan; Westhoff, Jens H.; Walter, Magdalena; Ziegler, Andreas; Hoffmann, Georg F.; Kiening, Karl

    Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)

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    Springer Science and Business Media LLC, 2021

    Published in: Monatsschrift Kinderheilkunde

  13. Julia‐Palacios, Natalia Alexandra; Kuseyri Hübschmann, Oya; Olivella, Mireia; Pons, Roser; Horvath, Gabriella; Lücke, Thomas; Fung, Cheuk‐Wing; Wong, Suet‐Na; Cortès‐Saladelafont, Elisenda; Rovira‐Remisa, M. Mar; Yıldız, Yılmaz; Mercimek‐Andrews, Saadet; Assmann, Birgit; Stevanović, Galina; Manti, Filippo; Brennenstuhl, Heiko; Jung‐Klawitter, Sabine; Jeltsch, Kathrin; Sivri, H. Serap; Garbade, Sven F.; García‐Cazorla, Àngels; Opladen, Thomas

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

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    Wiley, 2024

    Published in: Journal of Inherited Metabolic Disease

  14. Kuseyri Hübschmann, Oya; Juliá‐Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhánek, Jan; Pearson, Toni S.; Kuster, Alice; Cortès‐Saladelafont, Elisenda; Ibáñez, Salvador; García‐Jiménez, Maria Concepción; Honzík, Tomáš; Santer, René; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; García‐Cazorla, Ángeles

    Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

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    Wiley, 2022

    Published in: Annals of Neurology

  15. Alfonsi, Chiara; Stephan-Otto, Christian; Cortès-Saladelafont, Elisenda; Palacios, Natalia Juliá; Podzamczer-Valls, Inés; Cruz, Nuria Gutiérrez; Jiménez, María Rosario Domingo; Micó, Salvador Ibáñez; Vila, Miguel Tomás; Jeltsch, Kathrin; Hübschmann, Oya Kuseyri; Opladen, Thomas; Fragua, Ramón Velázquez; Gómez, Teresa; Fortuny, Oscar Alcoverro; Jiménez, Inmaculada García; Laso, Eduardo López; Martínez, Ana Roche; López, Jordi Muchart; Garcia-Cazorla, Àngels

    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

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    Springer Science and Business Media LLC, 2022

    Published in: Neuroradiology

  16. Kuseyri Hübschmann, Oya; Palacios, Natalia Alexandra Julia; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhánek, Jan; Pearson, Toni S.; Kuster, Alice; Cortès-Saladelafont, Elisenda; Ibáñez, Salvador; García-Jiménez, M. Concepción; Honzík, Tomáš; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg Friedrich; Opladen, Thomas; García-Cazorla, Ángeles

    An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia

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    Elsevier BV, 2021

    Published in: SSRN Electronic Journal

  17. Yıldız, Yılmaz; Kuseyri Hübschmann, Oya; Akgöz Karaosmanoğlu, Ayça; Manti, Filippo; Karaca, Meryem; Schwartz, Ida Vanessa D.; Pons, Roser; López‐Laso, Eduardo; Palacios, Natalia Alexandra Julia; Porta, Francesco; Kavecan, Ivana; Balcı, Mehmet Cihan; Dy‐Hollins, Marisela E.; Wong, Suet‐Na; Oppebøen, Mari; Medeiros, Leonardo Simão; de Paula, Leila Cristina Pedroso; García‐Cazorla, Angeles; Hoffmann, Georg F.; Jeltsch, Kathrin; Leuzzi, Vincenzo; Gökçay, Gülden; Hübschmann, Daniel; Harting, Inga; [...]

    Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

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    Wiley, 2023

    Published in: Journal of Inherited Metabolic Disease

  18. Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès‐Saladelafont, Elisenda; Mercimek‐Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer‐Valls, Inés; Domingo‐Jimenez, Rosario; Ibáñez, Salvador; Alcoverro‐Fortuny, Oscar; Gómez‐Alemany, Teresa; de Castro, Pedro; Alfonsi, Chiara; Zafeiriou, Dimitrios I.; López‐Laso, Eduardo; Guder, Philipp; Santer, René; Honzík, Tomáš; [...]

    Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

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    Wiley, 2021

    Published in: Journal of Inherited Metabolic Disease