Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients von Meyer, Pierre, Notarnicola, Cécile, Meli, Albano C, Matecki, Stefan, Hugon, Gérald, Salvador, Jérémy, Khalil, Mirna, Féasson, Léonard, Cances, Claude, Cottalorda, Jérôme, Desguerre, Isabelle, Cuisset, Jean-Marie, Sabouraud, Pascal, Lacampagne, Alain, Chevassus, Hugues, Rivier, François, Carnac, Gilles

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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv) von Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing von Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports von Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle

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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei von Lornage, Xavière, Sabouraud, Pascal, Lannes, Béatrice, Gaillard, Dominique, Schneider, Raphaël, Deleuze, Jean-François, Boland, Anne, Thompson, Julie, Böhm, Johann, Biancalana, Valérie, Laporte, Jocelyn

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Moyamoya Disease Associated With Hereditary Spherocytosis von Vo Van, Philippe, MD, Sabouraud, Pascal, MD, Mac, Gratiela, MD, Abely, Michel, PhD, Bednarek, Nathalie, MD

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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies von Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K, Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B, Vohra, Jitendra, Androulakis, Alexander F.A, Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mercier, Sandra, Michaud, Maud, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, Duboc, Denis

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PRRT2 mutations cause hemiplegic migraine von RIANT, Florence, ROZE, Emmanuel, BARBANCE, Cecile, MENERET, Aurélie, GUYANT-MARECHAL, Lucie, LUCAS, Christian, SABOURAUD, Pascal, TREBUCHON, Agnes, DEPIENNE, Christel, TOURNIER-LASSERVE, Elisabeth

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Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy von Echaniz-Laguna, Andoni, Dubourg, Odile, Carlier, Pierre, Carlier, Robert-Yves, Sabouraud, Pascal, Péréon, Yann, Chapon, Françoise, Thauvin-Robinet, Christel, Laforêt, Pascal, Eymard, Bruno, Latour, Philippe, Stojkovic, Tanya

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Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 von Sabouraud, Pascal, Riquet, Audrey, Spitz, Marie-Aude, Deiva, Kumaran, Nevsimalova, Sona, Mignot, Cyril, Lesca, Gaëtan, Bednarek, Nathalie, Doummar, Diane, Pietrement, Christine, Laugel, Vincent

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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, Frédérique, 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, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valérie, Pervillé, Anne, Testard, Hervé, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle

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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv) von Wallach, Elisabeth, Ehlinger, Virginie, Biotteau, Maelle, Walther-Louvier, Ulrike, Péréon, Yann, Vuillerot, Carole, Fontaine, Stephanie, Sabouraud, Pascal, Espil-Taris, Caroline, Cuisset, Jean-Marie, Laugel, Vincent, Baudou, Eloïse, Arnaud, Catherine, Cances, Claude

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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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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients von Torelli, Silvia, Scaglioni, Domenic, Sardone, Valentina, Ellis, Matthew J, Domingos, Joana, Jones, Adam, Feng, Lucy, Chambers, Darren, Eastwood, Deborah M, Leturcq, France, Yaou, Rabah Ben, Urtizberea, Andoni, Sabouraud, Pascal, Barnerias, Christine, Stojkovic, Tanya, Ricci, Enzo, Beuvin, Maud, Bonne, Gisele, Sewry, Caroline A, Willis, Tracey, Kulshrestha, Richa, Tasca, Giorgio, Phadke, Rahul, Morgan, Jennifer E, Muntoni, Francesco

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Collapsing glomerulopathy in Galloway–Mowat syndrome: A case report and review of the literature von Sartelet, Hervé, Pietrement, Christine, Noel, Laure-Hélène, Sabouraud, Pascal, Birembaut, Philippe, Oligny, Luc Laurier, Roussel, Bernard, Doco-Fenzy, Martine

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Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type von Audic, Frédérique, Dubois, Sonia M., Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Nougues, Marie-Christine, Davion, Jean-Baptiste, Richelme, Christian, Vuillerot, Carole, Legoff, Laure, Sabouraud, Pascal, Cances, Claude, Laugel, Vincent, Ropars, Juliette, Espil-Taris, Caroline, Trommsdorff, Valérie, Pervillé, Anne, Garcia-de-la-Banda, Marta Gomez, Testard, Hervé, Chouchane, Mondher, Walther-Louvier, Ulrike, Schweizer, Cyril, Halbert, Cécile, Badri, Myriam, Quijano-Roy, Susana, Chabrol, Brigitte, Desguerre, Isabelle

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New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum von BAHI-BUISSON, Nadia, SOUVILLE, Isabelle, LOUIS LEGER, Pierre, ELIE, Caroline, BODDAERT, Nathalie, BELDJORD, Cherif, CHELLY, Jamel, FRANCIS, Fiona, EUROPEAN CONSORTIUM, Sbh-Lis, FOURNIOL, Franck J, TOUSSAINT, Aurelie, MOORES, Carolyn A, HOUDUSSE, Anne, YVES LEMAITRE, Jean, POIRIER, Karine, KHALAF-NAZZAL, Reham, HULLY, Marie

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients von Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine

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Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1 -Related Myopathies von Viprey, Mathilde, Trang, Ha, Pomedio, Michaël, Bessaci-Kabouya, Katia, Sabouraud, Pascal, Cheliout-Heraut, Fawzia, Mauran, Pierre

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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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