检索结果 - Cabrera‐Serrano, Macarena

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP 由 Sedghi, Maryam, Moslemi, Ali-Reza, Cabrera-Serrano, Macarena, Ansari, Behnaz, Ghasemi, Majid, Baktashian, Mojtaba, Fattahpour, Ali, Tajsharghi, Homa

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NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay 由 Mavillard, Fabiola, Madruga‐Garrido, Marcos, Rivas, Eloy, Servián‐Morilla, Emilia, Ávila‐Polo, Rainiero, Marcos, Irene, Morón, Francisco J., Paradas, Carmen, Cabrera‐Serrano, Macarena

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LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner 由 Ohkawara, Bisei, Cabrera-Serrano, Macarena, Nakata, Tomohiko, Milone, Margherita, Asai, Nobuyuki, Ito, Kenyu, Ito, Mikako, Masuda, Akio, Ito, Yasutomo, Engel, Andrew G., Ohno, Kinji

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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine 由 Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen

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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience 由 Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.

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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss 由 Servián‐Morilla, Emilia, Takeuchi, Hideyuki, Lee, Tom V, Clarimon, Jordi, Mavillard, Fabiola, Area‐Gómez, Estela, Rivas, Eloy, Nieto‐González, Jose L, Rivero, Maria C, Cabrera‐Serrano, Macarena, Gómez‐Sánchez, Leonardo, Martínez‐López, Jose A, Estrada, Beatriz, Márquez, Celedonio, Morgado, Yolanda, Suárez‐Calvet, Xavier, Pita, Guillermo, Bigot, Anne, Gallardo, Eduard, Fernández‐Chacón, Rafael, Hirano, Michio, Haltiwanger, Robert S, Jafar‐Nejad, Hamed, Paradas, Carmen

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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions 由 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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Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy 由 Martín-Aguilar, Lorena, Lleixà, Cinta, Pascual-Goñi, Elba, Caballero-Ávila, Marta, Martínez-Martínez, Laura, Díaz-Manera, Jordi, Rojas-García, Ricard, Cortés-Vicente, Elena, Turon-Sans, Janina, de Luna, Noemi, Suárez-Calvet, Xavier, Gallardo, Eduard, Rajabally, Yusuf, Scotton, Sangeeta, Jacobs, Bart C., Baars, Adája, Cortese, Andrea, Vegezzi, Elisa, Höftberger, Romana, Zimprich, Fritz, Roesler, Cornelia, Nobile-Orazio, Eduardo, Liberatore, Giuseppe, Hiew, Fu Liong, Martínez-Piñeiro, Alicia, Carvajal, Alejandra, Piñar-Morales, Raquel, Usón-Martín, Mercedes, Albertí, Olalla, López-Pérez, Maria Ángeles, Márquez, Fabian, Pardo-Fernández, Julio, Muñoz-Delgado, Laura, Cabrera-Serrano, Macarena, Ortiz, Nicolau, Bartolomé, Manuel, Duman, Özgür, Bril, Vera, Segura-Chávez, Darwin, Pitarokoili, Kalliopi, Steen, Claudia, Illa, Isabel, Querol, Luis

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