Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen von Gómez‐García de la Banda, Marta, Amaddeo, Alessandro, Khirani, Sonia, Pruvost, Sandrine, Barnerias, Christine, Dabaj, Ivana, Bénézit, Audrey, Durigneux, Julien, Carlier, Robert Y., Desguerre, Isabelle, Quijano‐Roy, Susana, Fauroux, Brigitte

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Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement von Kang, Peter B., McMillan, Hugh J., Kuntz, Nancy L., Lehky, Tanya J., Alter, Katharine E., Fitzpatrick, Kevin F., El Kosseifi, Charbel, Quijano‐Roy, Susana

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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility von Zaharieva, Irina T., Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, O'Grady, Gina, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Urtizberea, J. Andoni, Neto, Osorio Abath, Zanoteli, Edmar, Donkervoort, Sandra, Taylor, Juliet, Dixon, Joanne, Poke, Gemma, Foley, A. Reghan, Holmes, Chris, Williams, Glyn, Holder, Muriel, Yum, Sabrina, Medne, Livija, Quijano‐Roy, Susana, Romero, Norma B., Fauré, Julien, Feng, Lucy, Bastaki, Laila, Davis, Mark R., Phadke, Rahul, Sewry, Caroline A., Bönnemann, Carsten G., Jungbluth, Heinz, Bachmann, Christoph, Treves, Susan, Muntoni, Francesco

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Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests von Gómez‐Andrés, David, Díaz, Jorge, Munell, Francina, Sánchez‐Montáñez, Ángel, Pulido‐Valdeolivas, Irene, Suazo, Lionel, Garrido, Cristián, Quijano‐Roy, Susana, Bevilacqua, Jorge A.

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De novo LMNA mutations cause a new form of congenital muscular dystrophy von Quijano-Roy, Susana, Mbieleu, Blaise, Bönnemann, Carsten G., Jeannet, Pierre-Yves, Colomer, Jaume, Clarke, Nigel F., Cuisset, Jean-Marie, Roper, Helen, De Meirleir, Linda, D'Amico, Adele, Ben Yaou, Rabah, Nascimento, Andrés, Barois, Annie, Demay, Laurence, Bertini, Enrico, Ferreiro, Ana, Sewry, Caroline A., Romero, Norma B., Ryan, Monique, Muntoni, Francesco, Guicheney, Pascale, Richard, Pascale, Bonne, Gisèle, Estournet, Brigitte

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Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern von Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Germain, Dominique P., Richard, Pascale, Bulacio, Sebastian, Mompoint, Dominique, Quijano-Roy, Susana

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Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement von Dabaj, Ivana, Carlier, Robert Y, Gómez‐Andrés, David, Neto, Osório Abath, Bertini, Enrico, D'amico, Adele, Fattori, Fabiana, PéRéon, Yann, Castiglioni, Claudia, Rodillo, Eliana, Catteruccia, Michela, Guimarães, júlio Brandão, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean‐François, Malfatti, Edoardo, Bonnemann, Carsten, Laporte, Jocelyn, Romero, Norma, Felter, Adrien, Quijano‐Roy, Susana, Moreno, Cristiane Araújo Martins, Zanoteli, Edmar

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Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification von Proud, Crystal M., Mercuri, Eugenio, Finkel, Richard S., Kirschner, Janbernd, De Vivo, Darryl C., Muntoni, Francesco, Saito, Kayoko, Tizzano, Eduardo F., Desguerre, Isabelle, Quijano‐Roy, Susana, Benguerba, Kamal, Raju, Dheeraj, Faulkner, Eric, Servais, Laurent

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CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings von Carrera‐García, Laura, Natera‐de Benito, Daniel, Dieterich, Klaus, Banda, Marta G. G., Felter, Adrien, Inarejos, Emili, Codina, Anna, Jou, Cristina, Roldan, Monica, Palau, Francesc, Hoenicka, Janet, Pijuan, Jordi, Ortez, Carlos, Expósito‐Escudero, Jessica, Durand, Chantal, Nugues, Frédérique, Jimenez‐Mallebrera, Cecilia, Colomer, Jaume, Carlier, Robert Y., Lochmüller, Hanns, Quijano‐Roy, Susana, Nascimento, Andres

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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up von GóMez‐Andrés, David, Díaz‐Manera, Jordi, Alejaldre, Aida, Pulido‐Valdeolivas, Irene, GonzáLez‐mera, Laura, Olivé, Montse, Vilchez, Juan José, De Munain, Adolfo LóPez, Paradas, Carmen, Muelas, Nuria, SáNchez‐MontáÑez, Ángel, Alonso‐Jimenez, Alicia, De la banda, Marta Gómez García, Dabaj, Ivana, Bonne, Gisèle, Munell, Francina, Carlier, Robert Y., Quijano‐Roy, Susana

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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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Approach to the diagnosis of congenital myopathies von North, Kathryn N, Wang, Ching H, Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J, Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H, Sewry, Caroline, Laing, Nigel G, Bönnemann, Carsten G

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan von Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.

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Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood von Fayssoil, Abdallah, Chaffaut, Cendrine, Ogna, Adam, Stojkovic, Tanya, Lamothe, Laure, Mompoint, Dominique, Meng, Paris, Prigent, Helene, Clair, Bernard, Behin, Anthony, Laforet, Pascal, Bassez, Guillaume, Carlier, Robert, Orlikowski, David, Amthor, Helge, Quijano Roy, Susana, Crenn, Pascal, Chevret, Sylvie, Eymard, Bruno, Lofaso, Frederic, Annane, Djillali

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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study von Audic, Frederique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cecilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valerie, Perville, Anne, Testard, Herve, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management von Lagrue, Emmanuelle, Dogan, Céline, De Antonio, Marie, Audic, Frédérique, Bach, Nathalie, Barnerias, Christine, Bellance, Rémi, Cances, Claude, Chabrol, Brigitte, Cuisset, Jean-Marie, Desguerre, Isabelle, Durigneux, Julien, Espil, Caroline, Fradin, Mélanie, Héron, Delphine, Isapof, Arnaud, Jacquin-Piques, Agnès, Journel, Hubert, Laroche-Raynaud, Cécile, Laugel, Vincent, Magot, Armelle, Manel, Véronique, Mayer, Michèle, Péréon, Yann, Perrier-Boeswillald, Julie, Peudenier, Sylviane, Quijano-Roy, Susana, Ragot-Mandry, Sylvie, Richelme, Christian, Rivier, François, Sabouraud, Pascal, Sarret, Catherine, Testard, Hervé, Vanhulle, Catherine, Walther-Louvier, Ulrike, Gherardi, Romain, Hamroun, Dalil, Bassez, Guillaume

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Natural history of pulmonary function in collagen VI-related myopathies von FOLEY, A. Reghan, QUIJANO-ROY, Susana, NORTH, Kathryn, RYAN, Monique M, RICHARD, Pascale, ALLAMAND, Valérie, HICKS, Debbie, LAMANDE, Shireen, YING HU, GUALANDI, Francesca, SUNGYOUNG AUH, MUNTONI, Francesco, COLLINS, James, BÖNNEMANN, Carsten G, STRAUB, Volker, MCCALLUM, Michelle, DECONINCK, Nicolas, MERCURI, Eugenio, PANE, Marika, D'AMICO, Adele, BERTINI, Enrico

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Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial von Seferian, Andreea Mihaela, Moraux, Amélie, Annoussamy, Mélanie, Canal, Aurélie, Decostre, Valérie, Diebate, Oumar, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Deconinck, Nicolas, Van Parys, Frauke, Vereecke, Wendy, Wittevrongel, Sylvia, Mayer, Michèle, Maincent, Kim, Desguerre, Isabelle, Thémar-Noël, Christine, Cuisset, Jean-Marie, Tiffreau, Vincent, Denis, Severine, Jousten, Virginie, Quijano-Roy, Susana, Voit, Thomas, Hogrel, Jean-Yves, Servais, Laurent

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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three ye... von Desguerre, Isabelle, Barrois, Rémi, Audic, Frédérique, Barnerias, Christine, Chabrol, Brigitte, Davion, Jean Baptiste, Durigneux, Julien, Espil-Taris, Caroline, Gomez-Garcia de la Banda, Marta, Guichard, Marine, Isapof, Arnaud, Nougues, Marie Christine, Laugel, Vincent, Le Goff, Laure, Mercier, Sandra, Pervillé, Anne, Richelme, Christian, Thibaud, Marie, Sarret, Catherine, Schweitzer, Cyril, Testard, Hervé, Trommsdorff, Valérie, Vanhulle, Catherine, Walther-Louvier, Ulrike, Altuzarra, Cécilia, Chouchane, Mondher, Ropars, Juliette, Quijano-Roy, Susana, Cances, Claude

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Diaphragmatic dysfunction in SEPN1-related myopathy von Caggiano, Serena, MD, Khirani, Sonia, PhD, Dabaj, Ivana, MD, Cavassa, Eliana, MD, Amaddeo, Alessandro, MD, Arroyo, Jorge Olmo, BSc, Desguerre, Isabelle, MD, Richard, Pascale, MD, Cutrera, Renato, MD, Ferreiro, Ana, MD, Estournet, Brigitte, MD, Quijano-Roy, Susana, MD, Fauroux, Brigitte, MD

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