Publications
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Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Jana Domínguez Carral, Nascimento-Osorio A and Natera-de Benito D.
Epilepsy in Duchenne and Becker muscular dystrophies.
Annals of Clinical and Translational Neurology . 11(6): 1456-1464.
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Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with YR1-Congenital Myopathy
Journal of neuromuscular diseases . 11(3): 647-653.
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Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.
Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
Journal of Translational Genetics and Genomics . 6(3): 333-352. Number of citations: 2
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Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
PEDIATRIC NEUROLOGY . 157: 5-13.