Systematic review of drug therapy for chorea in NXK2‐1‐related disorders: Efficacy and safety evidence from case studies and series
Nou‐Fontanet, Laia, Martín‐Gómez, Carmen, Isabel‐Gómez, Rebeca, Bachoud‐Lévi, Anne‐Catherine, Zorzi, Giovanna, Capuano, Alessandro, Blasco‐Amaro, Juan Antonio, Ortigoza‐Escobar, Juan Darío
Published in European journal of neurology (01.12.2023)
Published in European journal of neurology (01.12.2023)
Get full text
Journal Article
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features
Nou-Fontanet, Laia, Martí-Sánchez, Laura, Martorell, Loreto, Casas, Jesús, Ortigoza-Escobar, Juan Darío
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.07.2024)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.07.2024)
Get more information
Journal Article
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
Carmona-Hidalgo, Beatriz, Martín-Gómez, Carmen, Herrera-Ramos, Estefanía, Rodríguez-López, Rocío, Fontanet, Laia-Nou, Moreno, José C, Blasco-Amaro, Juan Antonio, Léger, Juliane, Dario-Ortigoza-Escobar, Juan
Published in PloS one (11.07.2024)
Published in PloS one (11.07.2024)
Get full text
Journal Article
Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol
Martín-Gómez, Carmen, Ortigoza-Escobar, Juan Dario, Nou-Fontanet, Laia, Molina-Linde, Juan M, Bachoud-Lévi, Anne-Catherine, Léger, Juliane, Blasco-Amaro, Juan Antonio
Published in PloS one (09.02.2023)
Published in PloS one (09.02.2023)
Get full text
Journal Article
Encefalitis centroeuropea. Descripción del primer caso importado en España en un paciente pediátrico
Izurieta-Pacheco, Ana Carolina, Nou-Fontanet, Laia, Nascimento, Andrés, Martínez, Miguel J., Velasco-Arnaiz, Eneritz
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2022)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.01.2022)
Get full text
Journal Article
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders
Nou-Fontanet, Laia, Nguyen, Quang Tuan Rémy, Bachoud-Levi, Anne-Catherine, Reinhard, Carola, Ortigoza-Escobar, Juan Darío
Published in European journal of paediatric neurology (01.07.2024)
Published in European journal of paediatric neurology (01.07.2024)
Get full text
Journal Article
Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol
Carmen Martín-Gómez, Juan Dario Ortigoza-Escobar, Laia Nou-Fontanet, Juan M Molina-Linde, Anne-Catherine Bachoud-Lévi, Juliane Léger, Juan Antonio Blasco-Amaro, NKX2-1-Related Disorders Guideline Working Group
Published in PloS one (01.01.2023)
Published in PloS one (01.01.2023)
Get full text
Journal Article