Ortigoza-Escobar Juan Darío - U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III

Beatriz Villafuerte,Carlos Carrasco-López, Amanda Herranz Cecilia, Lucía Garzón, Rogelio Simón, Daniel Natera-de-Benito,Pouya Alikhani, Jair Tenorio, Fé García-Santiago,Mario Solis, Ángela del-Pozo, Pablo Lapunzina,

Thyroid® (2024)

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Diverse faces of GNAO1: mild forms in epilepsy and autism

William Grant Ludlam,Luca Soliani,Jana Domínguez-Carral,Duccio Maria Cordelli,Valentina Marchiani,Nerea Gorría-Redondo, Sergio Aguilera-Albesa,Kirill A. Martemyanov,Juan Darío Ortigoza-Escobar

Journal of Neurologypp.1-5, (2024)

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Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

Jana Domínguez Carral,Carola Reinhard,Darius Ebrahimi-Fakhari,Nathalie Dorison,Serena Galosi,Giacomo Garone, Masa Malenica,Claudia Ravelli, Esra Serdaroglu,Laura A van de Pol,Anne Koy,Vincenzo Leuzzi,

Frontiers in neurology (2024): 1403815-1403815

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Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders

Laia Nou-Fontanet, Quang Tuan Rémy Nguyen, Anne-Catherine Bachoud-Levi, Carola Reinhard, Chorea & Huntington Disease Group ERN-RND,Juan Darío Ortigoza-Escobar

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (2024): 110-117

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