Scoliosis in spinal muscular atrophy: is the preoperative magnetic resonance imaging necessary? von Davies, Nestor Ricardo, Galaretto, Eduardo, Piantoni, Lucas, Remondino, Rodrigo Germán, Francheri Wilson, Ida Alejandra, Monges, María Soledad, Frank, Sofía, Bersusky, Ernesto Salomón, Tello, Carlos Alberto, Noel, Mariano Augusto

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Severe manifestations of SARS-CoV-2 in children and adolescents: from COVID-19 pneumonia to multisystem inflammatory syndrome: a multicentre study in pediatric intensive care units... von García-Salido, Alberto, de Carlos Vicente, Juan Carlos, Belda Hofheinz, Sylvia, Balcells Ramírez, Joan, Slöcker Barrio, María, Leóz Gordillo, Inés, Hernández Yuste, Alexandra, Guitart Pardellans, Carmina, Cuervas-Mons Tejedor, Maite, Huidobro Labarga, Beatriz, Vázquez Martínez, José Luís, Gutiérrez Jimeno, Míriam, Oulego-Erróz, Ignacio, Trastoy Quintela, Javier, Medina Monzón, Carmen, Medina Ramos, Laura, Holanda Peña, María Soledad, Gil-Antón, Javier, Sorribes Ortí, Clara, Flores González, José Carlos, Hernández Palomo, Rosa María, Sánchez Ganfornina, Inma, Fernández Romero, Emilia, García-Besteiro, María, López-Herce Cid, Jesús, González Cortés, Rafael

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A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon von Foncuberta, María Eugenia, Monges, Soledad, Medina, Adriana, Lubieniecki, Fabiana, Gravina, Luis Pablo

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes von Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia

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Effect of early administration of dexamethasone in patients with COVID-19 pneumonia without acute hypoxemic respiratory failure and risk of development of acute respiratory distres... von Franco-Moreno, Anabel, Acedo-Gutiérrez, María Soledad, Casado-Suela, Miguel Ángel, Labrador-San Martín, Nicolás, de Carranza-López, María, Ibáñez-Estéllez, Fátima, Hernández-Blanco, Clara, Jiménez-Torres, José, Vallejo-Maroto, Ignacio, Romero-Pareja, Rodolfo, Peña-Lillo, Gabriela, Escobar-Rodríguez, Ismael, Torres-Macho, Juan

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A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units von González Cortés, Rafael, García-Salido, Alberto, Roca Pascual, David, Slöcker Barrio, María, de Carlos Vicente, Juan Carlos

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies von Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B

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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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Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials von McDonald, Craig M, Signorovitch, James, Mercuri, Eugenio, Niks, Erik H, Wong, Brenda, Fillbrunn, Mirko, Sajeev, Gautam, Yim, Erica, Dieye, Ibrahima, Miller, Debra, Ward, Susan J, Goemans, Nathalie

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Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders von Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz

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Rasmussen syndrome: An Argentinean experience in 32 patients von Caraballo, Roberto H, Fortini, Sebastian, Cersósimo, Ricardo, Monges, Soledad, Pasteris, María C, Gomez, María, Buompadre, María Celeste, Monese, Eduardo, Vilte, Carolina, Bartuluchi, Marcelo

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Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED von Punetha, Jaya, Monges, Soledad, Franchi, Maria Emilia, Hoffman, Eric P, Cirak, Sebahattin, Tesi-Rocha, Carolina

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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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Additional file 1 of Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle... von Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B.

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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes von Juan-Mateu, Jonas, Gonzalez-Quereda, L, Rodríguez, María José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, María Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget Bastús, Montserrat, Gallano, Pia, Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia

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Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related Disorders von Malfatti, Edoardo, Olivé i Plana, Montserrat, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz

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Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other Fhl1-related Disorders von Malfatti, Edoardo, Olivé i Plana, Montserrat, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz

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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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