An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids
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
Published in Scientific reports (01.12.2023)
Published in Scientific reports (01.12.2023)
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Journal Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up
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.
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Journal Article
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
Brennenstuhl, Heiko, Didiasova, Miroslava, Assmann, Birgit, Bertoldi, Mariarita, Molla, Gianluca, Jung-Klawitter, Sabine, Kuseyri Hübschmann, Oya, Schröter, Julian, Opladen, Thomas, Tikkanen, Ritva
Published in International journal of molecular sciences (13.11.2020)
Published in International journal of molecular sciences (13.11.2020)
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Journal Article
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Hübschmann, Oya Kuseyri, 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
Published in Annals of neurology (01.08.2022)
Published in Annals of neurology (01.08.2022)
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Journal Article
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
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
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Journal Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
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, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Journal Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
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, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A., Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek‐Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S., Sivri, H. Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk‐Wing
Published in Journal of inherited metabolic disease (01.11.2021)
Published in Journal of inherited metabolic disease (01.11.2021)
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Journal Article
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
Published in Molecular genetics and metabolism (01.07.2023)
Published in Molecular genetics and metabolism (01.07.2023)
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Journal Article
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
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, Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F., Garbade, Sven F., Sivri, H. Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García‐Cazorla, Angeles, Opladen, Thomas, Harting, Inga
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Journal Article
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
Erdal, İzzet, Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Haas, Dorothea, Günbey, Ceren, Ertuğrul, İlker, Yalnızoğlu, Dilek
Published in Journal of Pediatric Endocrinology and Metabolism (27.08.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (27.08.2024)
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Journal Article
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
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
Published in Neuroradiology (01.11.2022)
Published in Neuroradiology (01.11.2022)
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Journal Article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies
Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S, Sivri, H Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A, Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F, Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M, Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Published in Orphanet journal of rare diseases (26.05.2020)
Published in Orphanet journal of rare diseases (26.05.2020)
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Journal Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
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, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Published in Nature communications (20.09.2021)
Published in Nature communications (20.09.2021)
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Journal Article
Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis
Scharre, Svenja, Mengler, Katharina, Schnabel, Elena, Hübschmann, Oya Kuseyri, Tuncel, Ali Tunç, Hoffmann G.F, Georg Friedrich, Garbade, Sven F., Mütze, Ulrike, Kölker, Stefan
Published in Genetics in medicine (17.10.2024)
Published in Genetics in medicine (17.10.2024)
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Journal Article
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review
Kuseyri, Oya, Haas, Dorothea, Lang, Nina, Schäkel, Knut, Bettendorf, Markus
Published in Pediatrics (Evanston) (01.05.2017)
Published in Pediatrics (Evanston) (01.05.2017)
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Journal Article
PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
Himmelreich, Nastassja, Bertoldi, Mariarita, Bisello, Giovanni, Anikster, Yair, Zeev, Bruria Ben, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Kurian, Manju, Spaull, Robert, Pearl, Phillip L., Perez, Belen, Pons, Roser, Thony, Beat, Hübschmann, Oya Kuseyri, Jeltsch, Kathrin, Opladen, Thomas, Blau, Nenad
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
Himmelreich, Nastassja, Bertoldi, Mariarita, Bisello, Giovanni, Anikster, Yair, Zeev, Bruria Ben, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Kurian, Manju, Spaull, Robert, Pearl, Phillip L., Perez, Belen, Pons, Roser, Thony, Beat, Hübschmann, Oya Kuseyri, Jeltsch, Kathrin, Opladen, Thomas, Blau, Nenad
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Published in Molecular genetics and metabolism reports (01.12.2016)
Published in Molecular genetics and metabolism reports (01.12.2016)
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Journal Article
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
Published in Molecular genetics and metabolism (01.08.2023)
Published in Molecular genetics and metabolism (01.08.2023)
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Journal Article