Efficacy and safety of rituximab in myasthenia gravis: a French multicentre real‐life study by Dos Santos, A., Noury, J. ‐B., Genestet, S., Nadaj‐Pakleza, A., Cassereau, J., Baron, C., Videt, D., Michel, L., Pereon, Y., Wiertlewski, S., Magot, A.

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Permanent muscle weakness in MCArdle disease by Nadaj-Pakleza, Aleksandra A., Vincitorio, Carlo M., Laforêt, Pascal, Eymard, Bruno, Dion, Elisabeth, Teijeira, Susana, Vietez, Irene, Jeanpierre, Marc, Navarro, Carmen, Stojkovic, Tanya

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Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study by Grosskreutz, Julian, Mantegazza, Renato, Vu, Tuan, Gayfieva, Maryam, Berube, Maxime, Bril, Vera, Ng, Eduardo, Siddiqi, Zaeem, Tyblova, Michaela, Jakubikova, Michala, Witting, Nanna, Stemmerik, Mads, Andersen, Henning, Mathis, Stéphane, Tranchant, Christine, Messai, Sihame, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Querin, Giorgia, Weiss, Nicolas, Magy, Laurent, Hänsel, Eike, Teußer, Lars-Malte, Hagenacker, Tim, Blaes, Franz, Schwarz, Margret, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Tuccillo, Francesco, Umehara, Haruna, Higashi, Keiko, Nakamura, Noriko, Kubota, Tomoya, Yamamoto, Sana, Yokoyama, Kazumasa, Oji, Yutaka, Uzawa, Akiyuki, Sanko, Miki, Nakayama, Mayumi, Masuda, Masayuki, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Fukushige, Yuri, Yoshimura, Shunsuke, Hirayama, Takuro, Okamoto, Naoko, Sekiguchi, Kenji, Chihara, Norio, Suzuki, Shigeaki, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Ono, Hirohiko, Sugimoto, Takamichi, Kitowska, Monika, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Novikova, Ekaterina, Sidorova, Olga, Malkova, Nadezhda, Korobko, Denis, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Casasnovas, Carlos, Querol Gutiérrez, Luis, Canovas Segura, Anna, Juntas Morales, Raúl, Llufriú Durán, Sara, Gutiérrez Gutiérrez, Gerardo, Yeh, Jiann-Horng, Lee, Mei Fen, Akhter, Salma, Lam, Lucy, Holzberg, Shara, Ashworth, Lisa, Bender, Kathryn, Gandhi Mehta, Rachana, Miller, Gina, Smith, Rose, Rosow, Laura, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Padgett, Denny, Sorenson, Eric, Baras, Gelasio, Mahuwala, Zabeen, Ryan, Stephen, Sharma, Khema

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Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial by Diaz-Manera, Jordi, Kishnani, Priya S, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Berger, Kenneth I, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Choi, Young Chul, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Deegan, Patrick, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Komaki, Hirofumi, Longo, Nicola, Malinova, Vera, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Mongini, Tiziana Enrica, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tarnopolsky, Mark, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Billy, Jenny, Boschi, Silvia, Carrera Garcia, Laura, Chase, Lauren, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Pasnoor, Mamatha, Questienne, Claire, Ramos Lopes, Margarida, Riedl, Michaela, Salort-Campana, Emmanuelle, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien

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Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study by Tard, Céline, Bouhour, Françoise, Michaud, Maud, Beltran, Stephane, Fournier, Maxime, Demurger, Florence, Lagrange, Emmeline, Nollet, Sylvain, Sacconi, Sabrina, Noury, Jean‐Baptiste, Magot, Armelle, Cintas, Pascal, Renard, Dimitri, Deibener‐Kaminsky, Joëlle, Lefeuvre, Claire, Davion, Jean‐Baptiste, Salort‐Campana, Emmanuelle, Arrassi, Azzeddine, Taouagh, Nadjib, Spinazzi, Marco, Orlikowski, D, Masingue, M, Stojkovic, T, Béhin, A, Garcia, PY, Lallement, F, Bassez, G, Germain, D, Kouton, L, Verschueren, A, Furby, A, Kaminsky, AL, Lacour, A, Praline, J, Sole, G, Duval, F, Bouibede, F, Chapon, F, Minot, MC, Hubert, J, Pereon, Y, Acket, B, Nadaj‐Pakleza, A, Morales, RJ, Esselin, F, Petiot, P, Jaussaud, R, Mohamed, S, Echaniz‐Laguna, YA, Magy, L, Krim, E, Taithe, F, Bedat‐Millet, AL, Toquet, S, Diab, E, Maillet‐Vioud, M, Attarian, Shahram, Laforêt, Pascal

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Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey by Vicart, S., Péréon, Y., Ghorab, K., Pegat, A., Dufresne, R., Zozulya-Weidenfeller, A., Noury, J.-B., Nadaj-Pakleza, A., Tard, C., Sacconi, S.

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Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic by Tard, Céline, Salort‐Campana, Emmanuelle, Michaud, Maud, Spinazzi, Marco, Nadaj Pakleza, Aleksandra, Durr, Hélène, Bouhour, Françoise, Lefeuvre, Claire, Thomas, Romain, Arrassi, Azzeddine, Taouagh, Nadjib, Solé, Guilhem, Laforêt, Pascal, P, Laforêt, D, Orlikowski, G, Bassez, D, Germain, JB, Noury, F, Zagnoli, C, Tard, JB, Davion, E, Salort‐Campana, A, Verschueren, S, Sacconi, A, Furby, A, Lacour, J, Praline, G, Sole, D, Renard, F, Bouibede, M, Fournier, F, Chapon, MC, Minot, M, Spinazzi, J, Hubert, F, Demurger, A, Magot, P, Cintas, A, Nadaj‐Pakleza, F, Bouhour, RJ, Morales, F, Esselin, P, Petiot, R, Jaussaud, S, Pichard, A, Brassier, J, Do‐Cao, F, Feillet, G, Touati, YA, Echaniz‐Laguna, L, Magy, M, Michaud, E, Lagrange, E, Krim, F, Taithe, AL, Bedat‐Millet, S, Nollet, U, Walter‐Louvier, B, Chabrol, M, Tardieu

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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease by Papadopoulos, Constantinos, Orlikowski, David, Prigent, Hélène, Lacour, Arnaud, Tard, Céline, Furby, Alain, Praline, Julien, Solé, Guilhem, Hogrel, Jean-Yves, De Antonio, Marie, Semplicini, Claudio, Deibener-Kaminsky, Joelle, Kaminsky, Pierre, Eymard, Bruno, Taouagh, Nadjib, Perniconi, Barbara, Hamroun, Dalil, Laforêt, Pascal, Bassez, G., Bedat-Millet, A.-L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Caillaud, C., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Ferrer, X., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M.-C., Nadaj-Pakleza, A., Nathier, C., Pellegrini, N., Petiot, P., Lofaso, F., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F.

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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study by Semplicini, Claudio, Letard, Pascaline, De Antonio, Marie, Taouagh, Nadjib, Perniconi, Barbara, Bouhour, Françoise, Echaniz-Laguna, Andoni, Orlikowski, David, Sacconi, Sabrina, Salort-Campana, Emmanuelle, Solé, Guilhem, Zagnoli, Fabien, Hamroun, Dalil, Froissart, Roseline, Caillaud, Catherine, Laforêt, Pascal

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Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene by Codron, P., Pautot, V., Tassin, A., Sternberg, D., Letournel, F., Richard, P., Nadaj-Pakleza, A.

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Analysis of the impact of sex and age on the variation in the prevalence of antinuclear autoantibodies in Polish population: a nationwide observational, cross-sectional study by Krzemień, Paweł, Kasperczyk, Sławomir, Banach, Maciej, Kasperczyk, Aleksandra, Dobrakowski, Michał, Tomasik, Tomasz, Windak, Adam, Mastej, Mirosław, Catapano, Alberico, Ray, Kausik K., Mikhailidis, Dimitri P., Toth, Peter P., Howard, George, Lip, Gregory Y. H., Tomaszewski, Maciej, Charchar, Fadi J., Sattar, Naveed, Williams, Bryan, MacDonald, Thomas M., Penson, Peter E., Jóźwiak, Jacek J.

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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients by Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico

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Current French Pompe Prevalence Study (French PoPS) by Sacconi, S, Piraud, M, Echaniz-Laguna, A, Tranchant, C, Boutte, C, Nadaj, A, Penisson-Besnier, I, Bouhour, F, Gervais, H, Petiot, P, Manel, V, Gallard, J, Salort-Campana, E, Solé, G, Pages, M, Echenne, B, Fourquet, I, Lacour, A, Feasson, L, Magot, A, Chabrol, B, Chapon, F, Clavelou, P, Martinez, E, Baëz, E, Laforêt, P, Pouget, J, Desnuelle, C

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T.P.41 by Decostre, V, Nadaj-Pakleza, A, Ollivier, G, Canal, A, Laforêt, P, Hogrel, J.Y

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Muscle imaging in STIM1-mutated tubular aggregate myopathy patients by Tasca, G, D'Amico, A, Monforte, M, Nadaj-Pakleza, A, Vialle, M, Fattori, F, Vissing, J, Ricci, E, Bertini, E

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GNE myopathy: Characteristics of affected patients diagnosed in mainland France by Behin, A, Krahn, M, Maisonobe, T, Laforet, P, Stojkovic, T, Juntas Morales, R, Nadaj Pakleza, A, Campana-Salort, E, Attarian, S, Pouget, J, Ferrer, X, Urtizberea, A, Sacconi, S, Romero, N, Eymard, B

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Phenotypic spectrum of patients with MERRF and mutations in the MTTK gene by Claeys, K, Altmann, J, Büchner, B, Nadaj-Pakleza, A, Lehmann, D, Schöls, L, Deschauer, M, Jackson, S, Schäfer, J, Lautenschläger, R, Kuhn, A, Schulz, J, Weis, J, Kornblum, C, Klopstock, T

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DISTAL MYOPATHIES: EP.76 Mutations in the prion-like domain of heterogenous nuclear ribonuclearprotein A1 (HNRNPA1) cause proximal and distal myopathies by Johari, M., Rusanen, S., Savarese, M., Jonson, P., Sarparanta, J., Vihola, A., Paramonov, I., Matalonga, L., Topf, A., Christine, M., Fradin, M., Letournel, F., Marcorelles, P., Nadaj, A., Spinazzi, M., Hackman, P., Udd, B.

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DISTAL MYOPATHIES by Johari, M., Rusanen, S., Savarese, M., Jonson, P., Sarparanta, J., Vihola, A., Paramonov, I., Matalonga, L., Topf, A., Christine, M., Fradin, M., Letournel, F., Marcorelles, P., Nadaj, A., Spinazzi, M., Hackman, P., Udd, B.

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OPALE: A patient registry for laminopathies and emerinopathies in France by Yaou, R. Ben, Vigouroux, C, Quijano-Roy, S, Campanna-Salort, E, Cintas, P, Cuisset, J, Juntas-Morales, R, Labombarda, F, Nadaj-Pakleza, A, Pereon, Y, Sole, G, Vantyghem, M, Richard, P, Leturcq, F, De Sandre-Giovannol, A, Duboc, D, Wahbi, K, Eymard, B, Bonne, G

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