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Scientific Reports|March 1, 2023
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)Ignacio Málaga, Adrian Avila, Sharon Primeaux, et al.
Revista Espanola De Salud Publica|June 15, 2022
[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.]Raquel Blanco Lago, Xana da Silva Mori, Bel Fenellós Cristina, et al.
Scientific Reports|June 2, 2023
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D)Adrian Avila, Ignacio Málaga, Deepa Sirsi, et al.
Annals of Neurology|December 10, 2013
Herpes simplex virus encephalitis is a trigger of brain autoimmunityThaís Armangue, Frank Leypoldt, Ignacio Málaga, et al.
Genes|July 29, 2025
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn SyndromeJulián Nevado, Raquel Blanco-Lago, Cristina Bel-Fenellós, et al.
Neurology|October 23, 2015
Autoimmune post-herpes simplex encephalitis of adults and teenagersThaís Armangue, Germán Moris, Verónica Cantarín-Extremera, et al.
Orphanet Journal of Rare Diseases|December 26, 2014
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndromePilar Quijada-Fraile, Mar O'Callaghan, Elena Martín-Hernández, et al.
International Journal of Molecular Sciences|December 10, 2021
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical SpectrumAna Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, et al.
Neurology and Therapy|October 21, 2022
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL StudyJuan F Vázquez-Costa, María Branas-Pampillón, Julita Medina-Cantillo, et al.
The Lancet. Neurology|February 15, 2020
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational studyThaís Armangue, Gemma Olivé-Cirera, Eugenia Martínez-Hernandez, et al.
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