Muscle magnetic resonance imaging in VCP-related multi-system proteinopathy (IBMPFD): is the clue in the “fat pockets”? by Fernandez-Torrón, R, Marini-Bettolo, C, Lochmüller, H, Straub, V, Evangelista, T

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Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials by Díaz-Manera, J, Fernandez-Torrón, R, Llauger, J, James, M, Mayhew, A, Smith, F.E, Rufibach, L, Bushby, K, Straub, V

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Quantitative magnetic resonance imaging of the skeletal muscle in a multi-center dysferlinopathy study: 1-year follow-up by Smith, F.E, Azzabou, N, Reyngoudt, H, Wilson, I, Fernandez-Torrón, R, Carlier, P, Blamire, A.M, Bushby, K, Straub, V

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Myotonic dystrophy trial readiness by Nikolenko, N, Jimenez-Moreno, A.C, Gomes, T, Wood, L, Moat, D, Newman, J, Fernandez-Torrón, R, Roos, A, Atalaia, A, Monckton, D.G, Turner, C, Lochmüller, H

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Clinical outcome study for dysferlinopathy: Sensitivity of outcome measures over one-year by Moore, U, James, M, Mayhew, A, Jacobs, M, Feng, J, Harris, E, Fernandez-Torrón, R, Bettinson, K, Hilsden, H, Rufibach, L, Cnaan, A, Straub, V, Bushby, K

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21181. RESONANCIA MUSCULAR COMO HERRAMIENTA DIAGNÓSTICA EN LA ENFERMEDAD DE EMERY-DREIFUSS: A RAÍZ DE UN CASO by Albajar Gómez, I., Núñez Manjarres, G., Iruzubieta Agudo, P., López Moreno, Y., Bernabeu Follana, A., Escobar Padilla, A., Lijerón Farel, S., Álvarez Agoues, K., Ayuso García, D., Fernández Torrón, R., Maneiro Vicente, M., Olasagasti Calzacorta, V., López de Munain Arregui, A., Croitoru, I., Sáez Villaverde, R., Poza Aldea, J., Alustiza Echeverría, J.

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G.P.143 by Díaz-Manera, J, Alejaldre, A, Gonzalez, L, Rojas-García, R, Olivé, M, Llauger, J, Gallardo, E, Gonzalez-Quereda, L, Carbonell, P, Marquez, C, Muelas, N, Vílchez, J.J, Fernández-Torrón, R, Lopez de Munain, A, Illa, I

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Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy by Tiet, M., Fernandez-Torrón, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J.R., Bushby, K., Straub, V.

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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort by Gutiérrez-Rivas, E, Bautista, J, Vílchez, J.J, Muelas, N, Díaz-Manera, J, Illa, I, Martínez-Arroyo, A, Olivé, M, Sanz, I, Arpa, J, Fernández-Torrón, R, López de Munáin, A, Jiménez, L, Solera, J, Lukacs, Z

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ALS: A bucket of genes, environment, metabolism and unknown ingredients by Zufiría, Mónica, Gil-Bea, Francisco Javier, Fernández-Torrón, Roberto, Poza, Juan José, Muñoz-Blanco, Jose Luis, Rojas-García, Ricard, Riancho, Javier, López de Munain, Adolfo

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478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases by Segarra-Casas, A., Domínguez-González, C., Natera-de-Benito, D., Ortez, C., Nascimiento, A., Hernández-Laín, A., Kapetanovic, S., Rodríguez, M., González-Mera, L., Nedkova, V., Fernández-Torrón, R., López-de Munain, A., Jimenez-Mallebrera, C., Rodríguez-Santiago, B., Gallardo, E., Olivé, M., Gallano, P., González-Quereda, L.

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Activation of the Brainstem but not of the Hypothalamus in Hemicrania Continua without Autonomic Symptoms by Irimia, P, Arbi, J, Prieto, E, Fernández-Torrón, R, Martínez-Vila, E

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P.185The clinical outcome study for dysferlinopathy: quantitative MRI and physiotherapy outcomes to capture disease progression by James, M., Smith, F., Reyngoudt, H., Wilson, I., Mayhew, A., Fernández-Torrón, R., Araujo, E., Stojkovic, T., Blamire, A., Carlier, P., Straub, V.

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Functional neuroimaging in the diagnosis of patients with parkinsonism: Update and recommendations for clinical use by Arbizu, J, Luquin, M.R, Abella, J, de la Fuente-Fernández, R, Fernandez-Torrón, R, García-Solís, D, Garrastachu, P, Jiménez-Hoyuela, J.M, Llaneza, M, Lomeña, F, Lorenzo-Bosquet, C, Martí, M.J, Martinez-Castrillo, J.C, Mir, P, Mitjavila, M, Ruiz-Martínez, J, Vela, L

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OD22 - Muscle magnetic resonance imaging in VCP-related multi-system proteinopathy (IBMPFD): is the clue in the “fat pockets”? by Fernandez-Torrón, R., Marini-Bettolo, C., Lochmüller, H., Straub, V., Evangelista, T.

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D29 - Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials by Díaz-Manera, J., Fernandez-Torrón, R., Llauger, J., James, M., Mayhew, A., Smith, F.E., Rufibach, L., Bushby, K., Straub, V.

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D16 - Quantitative magnetic resonance imaging of the skeletal muscle in a multi-center dysferlinopathy study: 1-year follow-up by Smith, F.E., Azzabou, N., Reyngoudt, H., Wilson, I., Fernandez-Torrón, R., Carlier, P., Blamire, A.M., Bushby, K., Straub, V.

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Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert by Gutiérrez Gutiérrez, G., Díaz-Manera, J., Almendrote, M., Azriel, S., Eulalio Bárcena, J., Cabezudo García, P., Camacho Salas, A., Casanova Rodríguez, C., Cobo, A.M., Díaz Guardiola, P., Fernández-Torrón, R., Gallano Petit, M.P., García Pavía, P., Gómez Gallego, M., Gutiérrez Martínez, A.J., Jericó, I., Kapetanovic García, S., López de Munaín Arregui, A., Martorell, L., Morís de la Tassa, G., Moreno Zabaleta, R., Muñoz-Blanco, J.L., Olivar Roldán, J., Pascual Pascual, S.I., Peinado Peinado, R., Pérez, H., Poza Aldea, J.J., Rabasa, M., Ramos, A., Rosado Bartolomé, A., Rubio Pérez, M.Á., Urtizberea, J.A., Zapata-Wainberg, G., Gutiérrez-Rivas, E.

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P.184Clinical outcome study for dysferlinopathy: a longitudinal examination of the upper limb involvement using physiotherapy outcome measures and T1w MRI by James, M., Fernández-Torrón, R., Mayhew, A., Alfano, L., Muni-Lofra, R., Duong, T., Maron, E., Hutchence, M., Vandervelde, B., Mendez, B., Holsten, S., Sakamoto, C., Pedrosa Belmonte, I., Thiele, S., Canal, A., Semplicini, C., Seiner, C., Lowes, L., Straub, V., Diaz-Manera, J.

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S10 - Myotonic dystrophy trial readiness by Nikolenko, N., Jimenez-Moreno, A.C., Gomes, T., Wood, L., Moat, D., Newman, J., Fernandez-Torrón, R., Roos, A., Atalaia, A., Monckton, D.G., Turner, C., Lochmüller, H.

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