Molecular characterization of congenital myasthenic syndromes in Spain by Natera-de Benito, D., Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.

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Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II by Frongia, A.L., Natera-de Benito, D., Ortez, C., Alarcón, M., Borrás, A., Medina, J., Vigo, M., Padrós, N., Moya, O., Armas, J., Carrera-García, L., Expósito-Escudero, J., Cuadras, D., Bernal, S., Martorell, L., Colomer, J., Nascimento, A.

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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors by Natera-de Benito, D., Nascimento, A., Abicht, A., Ortez, C., Jou, C., Müller, J. S., Evangelista, T., Töpf, A., Thompson, R., Jimenez-Mallebrera, C., Colomer, J., Lochmüller, H.

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Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up by Natera-de Benito, D, Domínguez-Carral, J, Muelas, N, Nascimento, A, Ortez, C, Jaijo, T, Arteaga, R, Colomer, J, Vilchez, JJ

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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations by Natera-de Benito, D, Bestué, M, Vilchez, J.J, Evangelista, T, Töpf, A, García-Ribes, A, Trujillo-Tiebas, M.J, García-Hoyos, M, Ortez, C, Camacho, A, Jiménez, E, Dusl, M, Abicht, A, Lochmüller, H, Colomer, J, Nascimento, A

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Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices by Domínguez-Carral, J, López-Pisón, F.J, Macaya, A, Bueno Campaña, M, García-Pérez, M.A, Natera-de Benito, D

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Congenital Harlequin syndrome as an isolated phenomenon: A case report and review of the literature by Vidal Esteban, A, Natera-de Benito, D, Martínez Sánchez, D, Reche Sainz, A, Rodríguez Díaz, M.R, Alfaro Iznaola, C.M, de Santos Moreno, M.T

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28P CHKB muscular dystrophy: beyond megamitochondria by Bergada, A. Codina, Nascimento, A., Lavilla, R., Ortez, C., Natera-de Benito, D., Expósito, J., Estévez-Arias, B., Carrera, L., Martorell, L., Isaí, A., Colomer, J., Jou, C.

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160P Risdiplam real-world experience in paediatric patients with spinal muscular atrophy type 2 by Nascimento Osorio, A., Expósito-Escudero, J., Medina, J., Valle, M., Roca, S., Moya, O., Natera De-Benito, D., Latre, C., Ortez, C., Carrera-García, L.

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P250 Epilepsy in Duchenne muscular dystrophy by Gómez, J Armijo, Liz, M., Ortez, C., Domínguez-Carral, J., Exposito-Escudero, J., Carrera-Garcia, L., De Benito, D Natera, Nascimento, A.

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P181 Trio genome analysis in 45 unsolved children with neuromuscular diseases by De Benito, D Natera, Estevez-Arias, B., Matalonga, L., Ortez, C., Carrera-Garcia, L., Exposito-Escudero, J., Codina, A., Jou, C., Beltran, S., Nascimento, A.

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P406 Identification of a deep-intronic variant that results in a pseudoexon in an individual with NEB-related myopathy by Estévez-Arias, B., Yépez, V., Ortez, C., Carrera-Garcia, L., Exposito-Escudero, J., Codina, A., Aznar-Lain, G., Diaz, A., Jou, C., Nascimento, A., De Benito, D Natera

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496P Recessive missense variants in DARS2 gene as novel cause of axonal Charcot-Marie-Tooth disease by Estévez-Arias, B., Palot, N. Bonello, Carrera-García, L., Ortez, C., Expósito-Escudero, J., Yubero, D., Muchart, J., Delmont, E., Nascimento, A., Hoenicka, J., Palau, F., Natera-de Benito, D.

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511P Blood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome by Della Marina, A., Koutsoulidou, A., Natera de Benito, D., Tykocinski, L., Tomazou, M., Georgiou, K., Kölbel, H., Nascimento, A., Ortez, C., Lochmüller, H., Phylactou, L., Ruck, T., Abicht, A., Schara-Schmidt, U., Kale, D., Hentschel, A., Roos, A.

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526P Clinical spectrum and treatment in paediatric TANGO2 deficiency disorder by Ortez Gonzalez, C., Ortuño, B., Sarquella-Brugada, G., Meavilla, S., García-Cazorla, Á., Expósito-Escudero, J., O’ Callaghan, M., De-Benito, D. Natera, Darling, A., Nascimento, A., Julià, N., Carrera-García, L.

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210P Advancing upper limb motor function evaluation in Duchenne muscular dystrophy and spinal muscular atrophy via kinematic parameterization with the wearable device “ArmTracker”... by Natera De Benito, D., Favata, A., Expósito-Escudero, J., Gallart, R., Moya, O., Roca, S., Gatell, A. Marzabal, van Noort, L., Ortez, C., Torras, C., Nascimento, A., Medina-Cantillo, J., Vilà, R. Pàmies, Font-Llagunes, J.

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NEUROMUSCULAR JUNCTION RELATED DISORDERS by Ortez, C., Botelli, M., Exposito, J., Carrera, L., De Benito, D. Natera, Nolasco, G., Colomer, J., Nascimento, A.

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NEUROMUSCULAR JUNCTION RELATED DISORDERS: EP.299 Paediatric myasthenia gravis: a cohort of 20 years in a referral neuromuscular center by Ortez, C., Botelli, M., Exposito, J., Carrera, L., De Benito, D. Natera, Nolasco, G., Colomer, J., Nascimento, A.

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REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD: P.338 The ``Hospital goes to School'': a psychoeducational program to raise awareness about neuromuscular disorders in schools... by Zschaeck, I., Colomer, A., De Benito, D. Natera, Carrera, L., Exposito, J., Ortez, C., Colomer, J., Nascimento, A.

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REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD by Zschaeck, I., Colomer, A., De Benito, D. Natera, Carrera, L., Exposito, J., Ortez, C., Colomer, J., Nascimento, A.

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