Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families von González‐Mera, L., Ravenscroft, G., Cabrera‐Serrano, M., Ermolova, N., Domínguez‐González, C., Arteche‐López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián‐Morilla, E., Cooper, S. T, Waddell, L., Reardon, K., Corbett, A., Hernandez‐Laín, A., Sanchez, A., Esteban Perez, J., Paradas‐Lopez, C., Rivas‐Infante, E., Spencer, M., Laing, N., Olivé, M.

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Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2 von Cabrera-Serrano, M., Fabian, V.A., Boutilier, J., Wise, C., Faiz, F., Lamont, P.J., Laing, N.G.

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Altered myogenesis and premature senescence underlie human TRIM32-related myopathy von Servián-Morilla, E, Cabrera-Serrano, M, Rivas-Infante, E, Carvajal, A, Lamont, P J, Pelayo-Negro, A L, Ravenscroft, G, Junckerstorff, R, Dyke, J M, Fletcher, S, Adams, A M, Mavillard, F, Fernández-García, M A, Nieto-González, J L, Laing, N G, Paradas, C

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Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus) von Pitarch Castellano, I., Cabrera-Serrano, M., Calvo Medina, R., Cattinari, M.G., Espinosa García, S., Fernández-Ramos, J.A., García Campos, O., Gómez-Andrés, D., Grimalt Calatayud, M.A., Gutiérrez Martínez, A.J., Ibáñez Albert, E., Kapetanovic García, S., Madruga-Garrido, M., Martínez-Moreno, M., Medina Cantillo, J., Melián Suárez, A.I., Moreno Escribano, A., Munell, F., Nascimento Osorio, A., Pascual-Pascual, S.I., Povedano, M., Santana Casiano, I.M., Vázquez-Costa, J.F.

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen

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21660. NEMALINAS EN UN CASO DE DERMATOMIOSITIS REFRACTARIA A TRATAMIENTO INMUNOSUPRESOR CRÓNICO COMO HALLAZGO INESPERADO von Luque Ambrosiani, A., Rivas Infante, E., Gómez Fernández, F., Rojas-Marcos Rodríguez-Quesada, I., Cabrera Serrano, M., Paradas López, C.

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20108. NUEVA MUTACIÓN EN DARS2 EN UNA FAMILIA ESPAÑOLA CON DOS HERMANOS AFECTOS DE LEUCOENCEFALOPATÍA CON AFECTACIÓN DEL TRONCO CEREBRAL Y MÉDULA ESPINAL SIN ELEVACIÓN DE LACTATO... von Luque Ambrosiani, A., Cabrera Serrano, M., Rojas-Marcos Rodríguez- Quesada, I., Fernández Panadero, A., Casado Chocán, J.

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A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain von Carbonell-Corvillo, P., Tristán-Clavijo, E., Cabrera-Serrano, M., Servián-Morilla, E., García-Martín, G., Villarreal-Pérez, L., Rivas-Infante, E., Area-Gómez, E., Chamorro-Muñoz, M.I., Gil-Gálvez, A., Miranda-Vizuete, A., Martinez-Mir, A., Laing, N., Paradas, C.

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Usefulness of pulmonary function tests and blood gases in acute neuromuscular respiratory failure von Cabrera Serrano, M., Rabinstein, A. A.

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Utrophin immunohistochemical expression in neuromuscular disorders von Avila-Polo, R, Rivas, E, Cabrera-Serrano, M, Carbonell, P, Rojas-Marcos, I, Morgado, Y, Servian, E, Madruga, M, Marquez, C, Paradas, C

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A novel MYH7 mutation causing the Laing distal myopathy in Andalucia von Carbonell Corvillo, P, Servián-Morilla, E, Tristán Clavijo, E, Gil-Gálvez, A, García Martín, G, Rivas Infante, E, Villarreal Pérez, L, Márquez Infante, C, Chamorro Muñoz, M, Cabrera Serrano, M, Miranda-Vizuete, A, Martínez Mir, A, Paradas López, C

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STRUCTURE TOPOLOGY AND EXTREME OPERATORS von CABRERA-SERRANO, ANA M., MENA-JURADO, JUAN F.

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Nice Operators into G-Spaces von Cabrera-Serrano, Ana M., Mena-Jurado, Juan F.

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, [alpha]-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servián-Morilla, E, Cabrera-Serrano, M, Johnson, K, Pandey, A, Ito, A, Rivas, E, Chamova, T

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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions von Olivé, Montse, Engvall, Martin, Ravenscroft, Gianina, Cabrera-Serrano, Macarena, Jiao, Hong, Bortolotti, Carlo Augusto, Pignataro, Marcello, Lambrughi, Matteo, Jiang, Haibo, Forrest, Alistair R. R., Benseny-Cases, Núria, Hofbauer, Stefan, Obinger, Christian, Battistuzzi, Gianantonio, Bellei, Marzia, Borsari, Marco, Di Rocco, Giulia, Viola, Helena M., Hool, Livia C., Cladera, Josep, Lagerstedt-Robinson, Kristina, Xiang, Fengqing, Wredenberg, Anna, Miralles, Francesc, Baiges, Juan José, Malfatti, Edoardo, Romero, Norma B., Streichenberger, Nathalie, Vial, Christophe, Claeys, Kristl G., Straathof, Chiara S. M., Goris, An, Freyer, Christoph, Lammens, Martin, Bassez, Guillaume, Kere, Juha, Clemente, Paula, Sejersen, Thomas, Udd, Bjarne, Vidal, Noemí, Ferrer, Isidre, Edström, Lars, Wedell, Anna, Laing, Nigel G.

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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES von Dofash, L., Faiz, F., Servián-Morilla, E., Rivas, E., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.

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CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.34 3′UTR variant in KLHL40 causes nemaline myopathy von Dofash, L., Faiz, F., Servián-Morilla, E., Rivas, E., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.

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P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8 von Dofash, L., Monahan, G., Servián-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R., Davis, M., Beilharz, T., Laing, N., Cabrera-Serrano, M., Ravenscroft, G.

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Multiplicative primeness of strongly prime non-commutative Jordan algebras von Cabrera Serrano, A.M., Cabrera García, M.

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern von Servian-Morilla, E, Cabrera-Serrano, M, Johnson, K, Pandey, A, Ito, A, Rivas, E, Chamova, T, Muelas, N, Mongini, T, Nafissi, S, Claeys, Kristl, Grewal, R.P, Takeuchi, M, Hao, H, Bönnemann, C, Lopes Abath Neto, O, Medne, L, Brandsema, J, Töpf, A, Taneva, A, Vilchez, J.J, Tournev, I, Haltiwanger, R.S, Takeuchi, H, Jafar-Nejad, H, Straub, V, Paradas, C

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