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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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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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 zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study by Hewamadduma, Channa, Hinton, John, Juntas-Morales, Raul, Mantegazza, Renato, Sivakumar, Kumaraswamy, Śmiłowski, Marek, Utsugisawa, Kimiaki, Vu, Tuan, Weiss, Michael D, Brock, Melissa, Vanderkelen, Mark, Sembinelli, Dylan, Teitelbaum, Jeanne, Bernard, Emilien, Svahn, Juliette, Stojkovic, Tanya, Demeret, Sophie, Tranchant, Christine, Nadaj-Pakleza, Aleksandra, Chanson, Jean-Baptiste, Lecointe, Peggy, Schmidt, Jens, Zeng, Rachel, Kowarik, Markus, Ziemann, Ulf, Krumbholz, Markus, Martin, Pascal, Dünschede, Jutta, Berger, Benjamin, Stolte, Benjamin, Iorio, Raffaele, Falso, Silvia, Antozzi, Carlo, Frangiamore, Rita, Vanoli, Fiammetta, Rinaldi, Elena, Deguchi, Kazushi, Ishida, Sayaka, Suzuki, Shigeaki, Nakahara, Jin, Nagaoka, Astushi, Uzawa, Akiyuki, Kubota, Tomoya, Takahashi, Masanori, Okuno, Tatsusada, Murai, Hiroyuki, Chyrchel-Paszkiewicz, Urszula, Kumor, Klaudiusz, Błaż, Michał, Szczudlik, Andrzej, Paśko, Aneta, Szczechowski, Lech, Ilkowski, Jan, Kapetanovic Garcia, Solange, Ortiz Bagan, Patricia, Belén Cánovas Segura, Ana, Cortes Vicente, Elena, Rodrigo Armenteros, Patricia, Cavey, Ana, Liow, Kore, Barboi, Alexandru, Guingrich, Sandra, Saba, Sami, Tellez, Marco, Elsheikh, Bakri, Freimer, Miriam, Govindarajan, Raghav, Habib, Ali A, Korb, Manisha, Machemehl, Hannah, Allen, Jeffrey, Harper, Emily, Farmakidis, Constantine, Saavedra, Lilli, Dimachkie, Mazen, McIlduff, Courtney, Barnes, Benjamin, Suresh, Niraja, Shaw, Jessica, Chopra, Manisha, Traub, Rebecca E, Jones, Sarah, Wagoner, Mary, Katz, Jonathan, Jenkins, Liberty, Khan, Shaida, Khatri, Bhupendra, Li, Yuebing, Caristo, Irys B, Rube, Jacob, Lisak, Robert P, Choudhury, Aparna, Ruzhansky, Katherine, Sachdev, Amit, Shin, Susan, Fetter, Mary, McKinnon, Jonathan, Sissons-Ross, Laura, Sahu, Amos, Distad, B Jane

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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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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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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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Muscle pathology in 31 patients with calpain 3 gene mutations by A. Nadaj-Pakleza, Aleksandra, Dorobek, Małgorzata, Nestorowicz, Klaudia, Ryniewicz, Barbara, Szmidt-Sałkowska, Elżbieta, M. Kamińska, Anna

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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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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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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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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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Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies by Drouot, Laurent, Allenbach, Yves, Jouen, Fabienne, Charuel, Jean-Luc, Martinet, Jérémie, Meyer, Alain, Hinschberger, Olivier, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Campana-Salort, Emmanuelle, Eymard, Bruno, Tournadre, Anne, Musset, Lucile, Sibilia, Jean, Marie, Isabelle, Benveniste, Olivier, Boyer, Olivier

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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, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F.

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G.P.281 by Nectoux, J, de Cid, R, Baulande, S, Leturcq, F, Urtizberea, J.A, Penisson-Besnier, I, Nadaj Pakleza, A, Roudaut, C, Criqui, A, Orhant, L, Peyroulan, D, Yaou, R. Ben, Nelson, I, Arné-Bes, M.C, Nitschke, P, Claustres, M, Bonne, G, Lévy, N, Chelly, J, Richard, I, Cossée, M

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Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients by Nadaj-Pakleza, A, Lusakowska, A, Sułek-Piątkowska, A, Krysa, W, Rajkiewicz, M, Kwieciński, H, Kamińska, A

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The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease by Laforêt, P., Laloui, K., Granger, B., Hamroun, D., Taouagh, N., Hogrel, J.-Y., Orlikowski, D., Bouhour, F., Lacour, A., Salort-Campana, E., Penisson-Besnier, I., Sacconi, S., Zagnoli, F., Chapon, F., Eymard, B., Desnuelle, C., Pouget, J.

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