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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series Sarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD Share Save
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism Latzer, Itay Tokatly; Hanson, Ellen; Bertoldi, Mariarita; Dibacco, Melissa L.; Aygun, Deniz; Afacan, Onur; Garcia-Cazorla, Angeles; Julia-Palacios, Natalia; Opladen, Thomas; Hubschmann, Oya Kuseyri; Jeltsch, Kathrin; Aden, Petra; Oppeboen, Mari; Rotenberg, Alexander; Tsuboyama, Melissa; Roullet, Jean-Baptiste; Pearl, Phillip L. Share Save
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases Kueper, Katharina; Poschet, Gernot; Rossmann, Julia; Garbade, Sven F.; Spiegelhalter, Alexander; Wen, Dan; Hoffmann, Georg F.; Schmitt, Claus P.; Opladen, Thomas; Peters, Verena Share Save
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency Latzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L. Share Save
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Afshar-Saber, Wardiya; Lee, Henry H. C.; Bertoldi, Mariarita; McGinty, Gabrielle E.; DiBacco, Melissa L.; Arning, Erland; Tsuboyama, Melissa; Rotenberg, Alexander; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Julia-Palacios, Natalia; Gibson, K. Michael; Sahin, Mustafa; Pearl, Phillip L. Share Save
Efficacy and safety of oral sepiapterin in participants with phenylketonuria on sapropterin dihydrochloride at time of Phase 3 aphenity study entry Zori, Roberto; Lah, Melissa; Offord, Staphanie; Lund, Allan; Opladen, Thomas; Peters, Heidi; Guilder, Laura; Ezgu, Faith; Breilyn, Margo Sheck; Manti, Filippo; Guerra, Ixiu del Carmen Cabrales; Ingalls, Kimberly; Zhao, Zhenming; Larkin, Alexandra; Hughes, Catalina; Somera-Molina, Kathleen; Smith, Neil; Longo, Nicola Share Save
Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria Sacharow, Stephanie; Muntau, Ania C.; Bratkovic, Drago; Margvelashvili, Lali; Agladze, Dodo; Guilder, Laura; Schwartz, Ida Vanessa D.; Minami, Maria Avanise Yumi; Kiykim, Ertugrul; Guerra, Ixiu del Carmen Cabrales; Zori, Roberto; Campistol, Jaume; Oliveira, Anabela; Janeiro, Patricia; Rutsch, Frank; Lund, Allan; Mungan, Halise; Vijay, Suresh; MacDonald, Anita; Chakrapani, Anupam; Opladen, Thomas; Tchan, Michel; Ingalls, Kimberly; Hughes, Catalina; Zhao, Zhenming; Larkin, Alexandra; Smith, Neil; Lah, Melissa Share Save
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations Reischl-Hajiabadi, Anna T.; Okun, Juergen G.; Kohlmueller, Dirk; Manukjan, Georgi; Hegert, Sebastian; Durner, Juergen; Schuhmann, Elfriede; Horster, Friederike; Muetze, Ulrike; Feyh, Patrik; Hoffmann, Georg F.; Roschinger, Wulf; Janzen, Nils; Opladen, Thomas Share Save
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; Huebschmann, Oya Kuseyri; Huebschmann, Daniel; Schwarz, Daniel Share Save
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants Latzer, Itay Tokatly; Roullet, Jean-Baptiste; Cesaro, Samuele; DiBacco, Melissa L.; Arning, Erland; Rotenberg, Alexander; Lee, Henry H. C.; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Julia-Palacios, Natalia; Gibson, K. Michael; Bertoldi, Mariarita; Pearl, Phillip L. Share Save
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023) Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad Share Save
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.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad Share Save
Pathophysiology of Epilepsy in Inherited Metabolic Disorders of GABA Metabolism Latzer, Itay Tokatly; DiBacco, Melissa; Opladen, Thomas; Jeltsch, Kathrin; Garcia-Cazorla, Angels; Aygun, Deniz; Rotenberg, Alexander; Roullet, Jean-Baptiste; Gibson, Michael; Pearl, Phillip Share Save
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