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  1. 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

  2. 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

  3. 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

  4. Oppebøen, Mari; Kerty, Emilia

    Sjenerende øyebevegelser

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    Norwegian Medical Association, 2019

    Published in: Tidsskrift for Den norske legeforening

  5. Randby, Hans; Salvador, Cathrin Lytomt; Oppebøen, Mari; Skogseid, Inger Marie; Koht, Jeanette

    Doparesponsive dystonier

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    Norwegian Medical Association, 2018

    Published in: Tidsskrift for Den norske legeforening

  6. Pearson, Toni S.; Gilbert, Laura; Opladen, Thomas; Garcia‐Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K. H.; Sykut‐Cegielska, Jolanta; Pons, Roser; Mercimek‐Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A.; Steel, Dora; Manti, Filippo; Meeks, Kathleen D.; Jeltsch, Kathrin; Flint, Lisa

    AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

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    Wiley, 2020

    Published in: Journal of Inherited Metabolic Disease

  7. 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

  8. 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

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

    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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    Wiley, 2021

    Published in: Journal of Inherited Metabolic Disease

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

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

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    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications