Validation of the Pediatric Quality of Life Inventory (TM), Neuromuscular Module, version 3.0 in Spanish for Argentina von Mozzoni, Julieta, Gomez, Soledad, Monges, M. Soledad, de Castro Perez, M. Fernanda, Mendez, Marina, Lemme, Paula, Avanza, Regina, Toobe, Marina, Paoletti, Leliz

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Transition experience of patients with neuromuscular disease von Greif, Valeria, Ugo, Florencia, de Castro Pérez, M Fernanda, Mozzoni, Julieta, Aguerre, Verónica, Saldías, Milagros, Monges, M Soledad

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HSD5 Patient and Caregiver Spinal Muscular Atrophy (SMA) Treatment Attribute Preferences in Latin America von Saenz, V., Chlistalla, M., Carlos, N., Toledo, C Castiglioni, Monges, M Soledad, Servais, L., Zanoteli, E.

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Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance von Punetha, Jaya, MS, Monges, Soledad, MD, Franchi, Maria Emilia, MD, Hoffman, Eric P., PhD, Cirak, Sebahattin, MD, Tesi-Rocha, Carolina, MD

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Validación del Cuestionario pediátrico de calidad de vida™ (Pediatric Quality of Life Inventory™) Módulo neuromuscular, versión 3.0 en español para Argentina

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Transition experience of patients with neuromuscular disease von Greif, Valeria, Ugo, Florencia, de Castro Pérez, M Fernanda, Mozzoni, Julieta, Aguerre, Verónica, Saldías, Milagros, Monges, M Soledad

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Experiencia en el proceso de transición de pacientes con enfermedad neuromuscular von Greif, Valeria, Ugo, Florencia, de Castro Pérez, M. Fernanda, Mozzoni, Julieta, Aguerre, Verónica, Saldías, Milagros, Monges, M. Soledad

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies von Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz

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Diagnostic approach to the congenital muscular dystrophies von Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia von Pinto, Miguel M., Monges, Soledad, Malfatti, Edoardo, Lubieniecki, Fabiana, Lornage, Xavière, Alias, Laura, Labasse, Clémence, Madelaine, Angéline, Fardeau, Michel, Laporte, Jocelyn, Tizzano, Eduardo F., Romero, Norma B.

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization von Bevilacqua, J. A., Monnier, N., Bitoun, M., Eymard, B., Ferreiro, A., Monges, S., Lubieniecki, F., Taratuto, A. L., Laquerrière, A., Claeys, K. G., Marty, I., Fardeau, M., Guicheney, P., Lunardi, J., Romero, N. B.

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International retrospective natural history study of LMNA-related congenital muscular dystrophy von Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle

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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype von Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen A C, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B

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International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history von Ben Yaou, Rabah, Yun, Pomi, D’amico, Adele, Francesco, Muntoni, Bönnemann, Carsten, Yaou, Rabah Ben, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, d'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Foley, a Reghan Reghan, Quijano-Roy, Susana, Bonne, Gisèle

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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database von Koeks, Zaïda, Bladen, Catherine, Salgado, En, van Zwet, Erik, Pogoryelova, Oksana, Mcmacken, Grace, Monges, Soledad, Foncuberta, Maria, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew M., Roy, Ann, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Ann, Kostera-Pruszczyk, Ann, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy, Martin, Ann, Peay, Holly, Kirschner, Jan, Flanigan, Kevin, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan, Lochmuller, Hanns

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Insuficiència cardíaca: guies de pràctica clínica von Pacheco-Huergo, Valeria, Amado-Guirado, Ester, Esgueva-de-Haro, Neus, López-Pareja, Natalia, Alemany Vilches, Laia, Bayes-Genis, Antoni, Casacuberta-Monge, José M, Comin-Colet, Josep, Elorza Ricart, Josep Maria, Fabregat-Gou, Jordi, Giné-Garriga, Maria, González-Medina, Marta, Ligüerre-Casals, Iskra, Mena-González, Amparo, Rivero-Gemar, Dolores, Romea-Lecumberri, Soledad, Serra-Grima, Jose R, Valles Callol, Joan Anton, Verdú Rotellar, José María

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