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

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

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    May 2024

    Published in: Journal of inherited metabolic disease ; 47(2024), 3 vom: Mai, Seite 447-462

  3. 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

  4. 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

  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

  10. Juliá‐Palacios, Natalia; Molina‐Anguita, Cristina; Sigatulina Bondarenko, María; Cortès‐Saladelafont, Elisenda; Aparicio, Javier; Cuadras, Daniel; Horvath, Gabriella; Fons, Carmen; Artuch, Rafael; García‐Cazorla, Àngels

    Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

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    Wiley, 2022

    Published in: Developmental Medicine & Child Neurology, 64 (2022) 7, Seite 915-923

  11. Castells, Alba-Aina; Balada, Rafel; Tristán-Noguero, Alba; O’Callaghan, Mar; Cortès-Saladelafont, Elisenda; Pascual-Alonso, Ainhoa; Garcia-Cazorla, Àngels; Armstrong, Judith; Alcántara, Soledad

    Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

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    MDPI AG, 2021

    Published in: Biomedicines, 9 (2021) 2, Seite 148

  12. Cortès‐Saladelafont, Elisenda; Molero‐Luis, Marta; Cuadras, Daniel; Casado, Mercedes; Armstrong‐Morón, Judith; Yubero, Dèlia; Montoya, Julio; Artuch, Rafael; García‐Cazorla, Àngels

    Gamma‐aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

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    Wiley, 2018

    Published in: Developmental Medicine & Child Neurology, 60 (2018) 8, Seite 780-792

  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, 47 (2024) 3, Seite 447-462

  14. Rovira-Remisa, M. Mar; Moreira, Mónica; Ventura, Paula Sol; Gonzalez-Alvarez, Pablo; Mestres, Núria; Graterol Torres, Fredzzia; Joaquín, Clara; Seuma, Agustí Rodríguez-Palmero; del Mar Martínez-Colls, Maria; Roche, Ana; Ibáñez-Micó, Salvador; López-Laso, Eduardo; Méndez-Hernández, María Jesús; Murillo, Marta; Monlleó-Neila, Laura; Maqueda-Castellote, Elena; del Toro Riera, Mireia; Felipe-Rucián, Ana; Giralt-López, Maria; Cortès-Saladelafont, Elisenda

    Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

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    Elsevier BV, 2023

    Published in: Molecular Genetics and Metabolism Reports, 35 (2023), Seite 100962

  15. Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Cortès‐Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Lindner, Martin; Lund, Allan M.; Mühlhausen, Chris; Murphy, Elaine; Roland, Dominique; Ruiz Gomez, Angeles; Skouma, Anastasia; Grünert, Sarah C.; [...]

    Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

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    Wiley, 2023

    Published in: Journal of Inherited Metabolic Disease, 46 (2023) 2, Seite 220-231

  16. 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, 92 (2022) 2, Seite 292-303

  17. 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, 64 (2022) 11, Seite 2179-2190

  18. Quijada-Fraile, Pilar; Arranz Canales, Elena; Martín-Hernández, Elena; Ballesta-Martínez, María Juliana; Guillén-Navarro, Encarna; Pintos-Morell, Guillem; Moltó-Abad, Marc; Moreno-Martínez, David; García Morillo, Salvador; Blasco-Alonso, Javier; Couce, María Luz; Gil Sánchez, Ricardo; Cortès-Saladelafont, Elisenda; López Rodríguez, Mónica A.; García-Silva, María Teresa; Morales Conejo, Montserrat

    Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

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    Springer Science and Business Media LLC, 2021

    Published in: Orphanet Journal of Rare Diseases, 16 (2021) 1

  19. 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 (2021)

  20. Ng, Joanne; Cortès‐Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M.; Heales, Simon J.R.; Pope, Simon; Biassoni, Lorenzo; Csányi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Deborah; García‐Cazorla, Àngels; Grozeva, Detelina; Raymond, F. Lucy; Pérez‐Dueñas, Belén; De Goede, Christian; Pearson, Toni S.; Meyer, Esther;

    DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

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    Wiley, 2020

    Published in: Movement Disorders, 35 (2020) 8, Seite 1357-1368