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1. RAINBOWFISH: Primary Efficacy and Safety Data in Risdiplam-treated Infants with Presymptomatic Spinal Muscular Atrophy (SMA) (S37.006)

Author

Servais, Laurent, primary, Farrar, Michelle, additional, Finkel, Richard, additional, Vlodavets, Dmitry, additional, Zanoteli, Edmar, additional, Al-Muhaizea, Mohammad, additional, de Queiroz Campos Araújo, Alexandra Prufer, additional, Nelson, Leslie, additional, Jaber, Birgit, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Palfreeman, Laura, additional, Gaki, Eleni, additional, Rabbia, Michael, additional, Summers, Dave, additional, Fontoura, Paulo, additional, and Bertini, Enrico, additional

Published
2024
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2. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
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4. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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5. Safety and Efficacy of Ataluren in nmDMD Patients from Study 041, a Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial (PL5.001)

Author

McDonald, Craig M., primary, Wu, Shiwen, additional, Gulati, Sheffali, additional, Komaki, Hirofumi, additional, Escobar, Rosa E., additional, Kostera-Pruszczyk, Anna, additional, Vlodavets, Dmitry, additional, Chae, Jong-Hee, additional, Jong, Yuh-Jyh, additional, Karachunski, Peter, additional, Statland, Jeffrey, additional, Lorentzos, Michelle, additional, Penematsa, Vinay, additional, Chou, Connie, additional, Lin, Min, additional, Werner, Christian, additional, Trifillis, Panayiota, additional, Gordon, Gregory, additional, Koladicz, Karyn, additional, Mastrandrea, Nicholas, additional, and Klein, Matthew, additional

Published
2023
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6. FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA) (P7-9.009)

Author

Darras, Basil, primary, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Day, John, additional, Deconinck, Nicholas, additional, Klein, Andrea, additional, Masson, Ricardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Mercuri, Eugenio, additional, Rose, Kristy, additional, Vlodavets, Dmitry, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, El-Khairi, Muna, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Palfreeman, Laura, additional, Dodman, Angela, additional, and Servais, Laurent, additional

Published
2023
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7. Expert council resolution on the use of pathogenetic therapy with Ataluren in patients with non-ambulatory Duchenne muscular dystrophy

Author

Artemyeva, Svetlana B., primary, Vlodavets, Dmitry V., additional, Guzeva, Valentina I., additional, Dzhaksybayeva, Altynshash K., additional, Zhauniaronak, Irina V., additional, Kuzenkova, Ludmila M., additional, Lepessova, Marzhan M., additional, Myrzalieva, Bakhyt D., additional, Pechatnikova, Natalia L., additional, Podkletnova, Tatyana V., additional, Suslov, Vasily M., additional, Pelipenko, Irina V., additional, Bello, Luca, additional, and Butoianu, Niculina, additional

Published
2023
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8. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, primary, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Servais, Laurent, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Bruno, Claudio, additional, Day, John W, additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Mercuri, Eugenio, additional, Vlodavets, Dmitry, additional, Wang, Yi, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, Kletzl, Heidemarie, additional, Gaki, Eleni, additional, Fontoura, Paulo, additional, Darras, Basil T, additional, Volpe, Joseph J, additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Gerber, Marianne, additional, Khwaja, Omar, additional, Scalco, Renata S, additional, Seabrook, Timothy, additional, Koch, Armin, additional, Balikova, Irina, additional, Joniau, Inge, additional, Accou, Geraldine, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, de Holanda Mendonça, Rodrigo, additional, Matsui Jr, Ciro, additional, Fornazieri Darcie, Ana Letícia, additional, Machado, Cleide, additional, Kiyoko Oyamada, Maria, additional, Martini, Joyce, additional, Polido, Graziela, additional, Rodrigues Iannicelli, Juliana, additional, Caires de Oliveira Achili Ferreira, Juliana, additional, Hu, Chaoping, additional, Zhu, Xiaomei, additional, Qian, Chen, additional, Shen, Li, additional, Li, Hui, additional, Shi, Yiyun, additional, Zhou, Shuizhen, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Wang, Sujuan, additional, Sang, Tian, additional, Wei, Cuijie, additional, Dong, Hui, additional, Cao, Yiwen, additional, Wen, Jing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Celovec, Ivan, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Tomas, Josipa, additional, Boespflug-Tanguy, Odile, additional, De Lucia, Silvana, additional, Seferian, Andrea, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Peche, Helene, additional, Grange, Allison, additional, Trang Nguyen, Diem, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Pagliano, Emanuela, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Dosi, Claudia, additional, Zanin, Riccardo, additional, Schembri, Veronica, additional, Brolatti, Noemi, additional, Rao, Giuseppe, additional, Tassara, Elisa, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Pedemonte, Marina, additional, Priolo, Enrico, additional, Sposetti, Lorenza, additional, Comi, Giacomo Pietro, additional, Govoni, Alessandra, additional, Osnaghi, Silvia Gabriella, additional, Minorini, Valeria, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amalia, additional, Pane, Marika, additional, Palermo, Concetta, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Guglielmo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Leone, Daniela, additional, Laura, Antonaci, additional, De Sanctis, Roberto, additional, Berti, Beatrice, additional, Kimura, Naoki, additional, Takeshima, Yasuhiro, additional, Shimomura, Hideki, additional, Lee, Tomoko, additional, Gomi, Fumi, additional, Morimatsu, Takanobu, additional, Furukawa, Toru, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Modrzejewska, Sandra, additional, Lemska, Anna, additional, Melnik, Evgenia, additional, Artemyeva, Svetlana, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Litvinova, Elena, additional, Enzmann, Cornelia, additional, Galiart, Elea, additional, Gugleta, Konstantin, additional, Wondrusch Haschke, Christine, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Ertugrul, Nesibe Eroglu, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Sari, Seher, additional, Bilgin, Neslihan, additional, Karaduman, Aynur Ayse, additional, Sarikaya, Fatma Gokcem Yildiz, additional, Graham, Robert J, additional, Ghosh, Partha, additional, Casavant, David, additional, Levine, Alexis, additional, Titus, Rachael, additional, Engelbrekt, Amanda, additional, Ambrosio, Lucia, additional, Fulton, Anne, additional, Baglieri, Anna Maria, additional, Dias, Courtney, additional, Maczek, Elizabeth, additional, Pasternak, Amy, additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, and Young, Sally, additional

Published
2022
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9. MRI in sarcoglycanopathies: a large international cohort study

Author

Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, and Bruno, Claudio

Published
2018
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11. RAINBOWFISH: Preliminary Efficacy and Safety Data in Risdiplam-Treated Infants with Presymptomatic SMA (P17-5.003)

Author

Finkel, Richard S., primary, Farrar, Michelle A., additional, Vlodavets, Dmitry, additional, Servais, Laurent, additional, Zanoteli, Edmar, additional, Al-Muhaizea, Mohammad, additional, Nelson, Leslie, additional, Prufer, Alexandra, additional, Wang, Yi, additional, Fisher, Carolyn, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Palfreeman, Laura, additional, Scalco, Renata, additional, and Bertini, Enrico, additional

Published
2022
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12. FIREFISH Parts 1 and 2: 24-month Safety and Efficacy of Risdiplam in Type 1 SMA (S39.005)

Author

Darras, Basil T., primary, Boespflug-Tanguy, Odile, additional, Day, John W., additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Mercuri, Eugenio, additional, Rose, Kristy, additional, Servais, Laurent, additional, Vlodavets, Dmitry, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gaki, Eleni, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, and Baranello, Giovanni, additional

Published
2022
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13. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Subjects
610 Medizin und Gesundheit
Abstract

BACKGROUND Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal muscular atrophy. The FIREFISH study is investigating the safety and efficacy of risdiplam in treated infants with type 1 spinal muscular atrophy versus historical controls. The primary endpoint of part 2 of the FIREFISH study showed that infants with type 1 spinal muscular atrophy attained the ability to sit without support for at least 5 s after 12 months of treatment. Here, we report on the safety and efficacy of risdiplam in FIREFISH part 2 over 24 months of treatment. METHODS FIREFISH is an ongoing, multicentre, open-label, two-part study. In FIREFISH part 2, eligible infants (aged 1-7 months at enrolment, with a genetically confirmed diagnosis of spinal muscular atrophy, and two SMN2 gene copies) were enrolled in 14 hospitals in ten countries across Europe, North America, South America, and Asia. Risdiplam was orally administered once daily at 0·2 mg/kg for infants between 5 months and 2 years of age; once an infant reached 2 years of age, the dose was increased to 0·25 mg/kg. Infants younger than 5 months started at 0·04 mg/kg (infants between 1 month and 3 months old) or 0·08 mg/kg (infants between 3 months and 5 months old), and this starting dose was adjusted to 0·2 mg/kg once pharmacokinetic data were available for each infant. The primary and secondary endpoints included in the statistical hierarchy and assessed at month 12 have been reported previously. Here we present the remainder of the secondary efficacy endpoints that were included in the statistical hierarchy at month 24: the ability to sit without support for at least 30 s, to stand alone, and to walk alone, as assessed by the Bayley Scales of Infant and Toddler Development, third edition gross motor subscale. These three endpoints were compared with a performance criterion of 5% that was defined based on the natural history of type 1 spinal muscular atrophy; the results were considered statistically significant if the lower limit of the two-sided 90% CI was above the 5% threshold. FIREFISH is registered with ClinicalTrials.gov, NCT02913482. Recruitment is closed; the 36-month extension period of the study is ongoing. FINDINGS Between March 13 and Nov 19, 2018, 41 infants were enrolled in FIREFISH part 2. After 24 months of treatment, 38 infants were ongoing in the study and 18 infants (44% [90% CI 31-58]) were able to sit without support for at least 30 s (p

Published
2022
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14. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Mercuri, Eugenio, primary, Deconinck, Nicolas, additional, Mazzone, Elena S, additional, Nascimento, Andres, additional, Oskoui, Maryam, additional, Saito, Kayoko, additional, Vuillerot, Carole, additional, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Kostera-Pruszczyk, Anna, additional, Servais, Laurent, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Khwaja, Omar, additional, Kletzl, Heidemarie, additional, Scalco, Renata S, additional, Staunton, Hannah, additional, Yeung, Wai Yin, additional, Martin, Carmen, additional, Fontoura, Paulo, additional, Day, John W, additional, Volpe, Joseph J., additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Daron, Aurore, additional, Delstanche, Stéphanie, additional, Bruninx, Romain, additional, Dal Farra, Fabian, additional, Schneider, Olivier, additional, Balikova, Irina, additional, Delbeke, Patricia, additional, Joniau, Inge, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, Casteels, Ingele, additional, De Waele, Liesbeth, additional, Cassiman, Catherine, additional, Prové, Lies, additional, Kinoo, David, additional, Vancampenhout, Lisa, additional, Van Den Hauwe, Marleen, additional, Van Impe, Annelies, additional, Prufer de Queiroz Campos Araujo, Alexandra, additional, Chacon Pereira, Aline, additional, Nardes, Flávia, additional, Haefeli, Lorena, additional, Rossetto, Julia, additional, Ferreira Rebel, Marcos, additional, Almeida Pereira, Jaqueline, additional, Campbell, Craig, additional, Sharan, Sapna, additional, McDonald, Wendy, additional, Scholtes, Cheryl, additional, Mah, Jean, additional, Sframeli, Maria, additional, Chiu, Angela, additional, Hagel, Jane, additional, Beneish, Raquel, additional, Cariou-Palmer, Gaela, additional, Pham, Connie, additional, Toffoli, Daniela, additional, Arpin, Stephanie, additional, Turgeon Desilets, Sarah, additional, Wang, Yi, additional, Hu, Chaoping, additional, Huan, Jianfeng, additional, Qian, Chen, additional, Shen, Li, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Li, Hui, additional, Wang, Sujuan, additional, Xiong, Hui, additional, Chang, Xingzhi, additional, Dong, Hui, additional, Liu, Ying, additional, Sang, Tian, additional, Wei, Cuijie, additional, Wen, Jing, additional, Cao, Yiwen, additional, Ly, Xingyao, additional, Zhao, Jingjing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Gidaro, Teresa, additional, Seferian, Andreea, additional, De Lucia, Silvana, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Momtchilova, Marta Milkova, additional, Peche, Helene, additional, Valherie, Carole, additional, Grange, Allison, additional, Lilien, Charlotte, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Ravelli, Claudia, additional, Cardas, Ruxandra, additional, Taytard, Jessica, additional, Aubertin, Guillaume, additional, Vanden Brande, Laure, additional, Davion, Jean-Baptiste, additional, Coopman, Stephanie, additional, Bouacha, Ikram, additional, Debruyne, Philippe, additional, Defoort, Sabine, additional, Derlyn, Gilles, additional, Leroy, Florian, additional, Danjoux, Loïc, additional, Guilbaud, Julie, additional, Desguerre, Isabelle, additional, Barnérias, Christine, additional, Semeraro, Michaela, additional, Bremond-Gignac, Dominique, additional, Bruere, Lenaic, additional, Rateaux, Maxence, additional, Deladrière, Élodie, additional, Germa, Virginie, additional, Pereon, Yann, additional, Mercie, Sandra, additional, Billaud, Fanny, additional, Le Goff, Lucie, additional, Letellier, Guy, additional, Portefaix, Aurélie, additional, De-Montferrand, Camille, additional, Le-Goff, Laure, additional, Fontaine, Stephanie, additional, Saidi, Manel, additional, Bouzid, Nabil, additional, Barriere, Aurélie, additional, Tinat, Marie, additional, Dreesbach, Michelle, additional, Lagréze, Wolf, additional, Michaelis, Bettina, additional, Molnar, Fanni, additional, Seger, Dorina, additional, Vogt, Sibylle, additional, Bertini, Enrico, additional, D'Amico, Adele, additional, Petroni, Sergio, additional, Bonetti, Anna Maria, additional, Carlesi, Adelina, additional, Mizzoni, Irene, additional, Bruno, Claudio, additional, Priolo, Enrico, additional, Rao, Giuseppe, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Zuffi, Ambra, additional, Comi, Giacomo Pietro, additional, Brusa, Roberta, additional, Corti, Stefania, additional, Daniele, Velardo, additional, Govoni, Alessandra, additional, Magri, Francesca, additional, Minorini, Valeria, additional, Osnaghi, Silvia Gabriella, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amaqlia, additional, Meneri, Megi, additional, Zoppas, Francesca, additional, Parente, Valeria, additional, Masson, Riccardo, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Zanin, Riccardo, additional, Mercuri, Eugenio, additional, Antonaci, Laura, additional, de Sanctis, Roberto, additional, Pane, Marika, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Gugliemo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Haginoya, Kazuhiro, additional, Kato, Atsuko, additional, Morishita, Yuko, additional, Kira, Ryutaro, additional, Akiyama, Kiyomu, additional, Goto, Miwako, additional, Mori, Yujiro, additional, Okamoto, Misato, additional, Tsutsui, Saki, additional, Takatsuji, Yuta, additional, Tanaka, Aya, additional, Komaki, Hirofumi, additional, Omori, Miina, additional, Suzuki, Ippei, additional, Takeuchi, Mizuki, additional, Todoroki, Daisuke, additional, Watanabe, Seji, additional, Matsubayashi, Tomoko, additional, Inakazu, Emi, additional, Nagura, Hiroe, additional, Suzuki, Akira, additional, Usui, Manami, additional, Ishikawa, Nobutsune, additional, Harada, Yousuke, additional, Fudeyasu, Kenishi, additional, Hirata, Kazuhiko, additional, Michiue, Kana, additional, Ueda, Kazuyuki, additional, Fujitani, Junko, additional, Arakawa, Reiko, additional, Takano, Kozue, additional, Yashiro, Shigeko, additional, Seki, Maiko, additional, Sano, Nozomi, additional, Fukuyama, Koji, additional, Matsumoto, Yuki, additional, Miyazaki, Hirofumi, additional, Shibata, Minoru, additional, Kobayashi, Kyoko, additional, Nakamura, Yukie, additional, Takeshima, Yasuhiro, additional, Kuma, Moe, additional, Fraczek, Anna, additional, Jedrzejowska, Maria, additional, Lusakowska, Anna, additional, Czeszyk-Piotrowicz, Agnieszka, additional, Hautz, Wojciech, additional, Rakusiewicz, Klaudia, additional, Burlewicz, Malgorzata, additional, Gierlak-Wojcicka, Zuzanna, additional, Kepa, Malwina, additional, Sikorski, Adam, additional, Sobieraj, Marcin, additional, Mazurkiewicz-Beldzinska, Maria, additional, Lemska, Anna, additional, Modrzejewska, Sandra, additional, Koberda, Mateusz, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Steinborn, Barbara, additional, Dalz, Magdalena, additional, Grabowska, Julia, additional, Hajduk, Wojciech, additional, Janasiewicz-Karachitos, Justyna, additional, Klimas, Monika, additional, Stopa, Marcin, additional, Gajewska, Ewa, additional, Pusz, Beata, additional, Vlodavets, Dmitry, additional, Melnik, Evgenia, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Milic Rasic, Vedrana, additional, Brankovic, Vesna, additional, Kosac, Ana, additional, Djokic, Olivera, additional, Jakšic, Vesna, additional, Pepic, Ana, additional, Martinovic, Jelena, additional, Munell Casadesus, Francina, additional, Tizzano, Eduardo, additional, Martín Begué, Nieves, additional, Wolley Dod, Charlotte, additional, Subira, Olaia, additional, Planas Pascual, Bernat, additional, Toro Tamargo, Esther, additional, Madruga Garrido, Marcos, additional, Medina Romero, José David, additional, Salinas, Marta Peña, additional, Nascimento Osorio, Andrés, additional, Díaz Cortés, Ana, additional, Jiménez Gañan, Enrique, additional, Suh, Simone Dowon, additional, Medina Cantillo, Julita, additional, Moya, Obdulia, additional, Padros, Nuria, additional, Urraca, Sandra Roca, additional, Valdivia, Hugo Gonzalez, additional, Pascual Pascual, Samuel, additional, de Manuel, Sofía, additional, Martin, Susana Noval, additional, Burnham, Paul, additional, Espinosa, Sandra, additional, Moreno, Mercedes Martinez, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Eroglu Ertugru, Nesibe, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Karaduman, Aynur Ayse, additional, Yilmaz, Oznur Tunca, additional, Bilgin, Neslihan, additional, Sari, Seher, additional, Chiriboga, Claudia, additional, Lee, John J., additional, Rome-Martin, Donnielle, additional, Day, John W., additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, Dunaway Young, Sally, additional, Fuerst-Recktenwald, Sabine, additional, Marquet, Anne, additional, Muelhardt, Nicoletta, additional, and Trundell, Dylan, additional

Published
2022
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15. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Author

Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Joseph J, Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Nicolas, Deconinck, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina, Martina, Galiot, Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Stefania Bianchi Marzoli, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini, Francesca, Abbati, Federica, Fassini, Michaela, Foa, Amalia, Lopopolo, Elisa, Minuti, Mercuri, Eugenio Maria, Pane, Marika, Concetta, Palermo, Pera, Maria Carmela, Amorelli, Giulia Maria, Costanza, Barresi, Gugliemo, D'Amico, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Yasuhiro, Takeshima, Fumi, Gomi, Naoki, Kimura, Takanobu, Morimatsu, Mana, Okamoto, Toru, Furukawa, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, Andrea, Klein, Cornelia, Enzmann, Elea, Galiart, Konstantin, Gugleta, Patricia, Siems, Verena, Kreiliger, Christine Wondrusch Haschke, Haluk, Topaloglu, Ibrahim, Oncel, Didem, Ardicli, Nesibe Eroglu Ertugrul, Hizal, Gharibzadeh, Ceren, Gunbey, Bahadir, Konuskan, Selen Serel Arslan, Elams Ebru Yalcin, Fatma Gokcem Yildiz Sarikaya, Bora, Eldem, Sibel, Kadayıfçılar, Ipek, Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Robert, J Graham, Partha, Ghosh, David, Casavant, Brian, Snyder, Alexis, Levine, Rachael, Titus, Amanda, Engelbrekt, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, John, W Day, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young, Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, and Ambrosio, Lucia

Subjects
Male, medicine.medical_specialty, Neuromuscular disease, Risdiplam, Type 1 Spinal Muscular Atrophy, treated infants, historical controls, MEDLINE, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Severity of illness, medicine, Humans, Progression-free survival, 610 Medicine & health, business.industry, Historically Controlled Study, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Progression-Free Survival, Settore MED/26 - NEUROLOGIA, Pyrimidines, Neuromuscular Agents, Motor Skills, Female, business, Azo Compounds
Abstract

BACKGROUND Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein. Risdiplam is an orally administered small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein in blood. METHODS We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment. Part 1 of the study (published previously) determined the dose to be used in part 2 (reported here), which assessed the efficacy and safety of daily risdiplam as compared with no treatment in historical controls. The primary end point was the ability to sit without support for at least 5 seconds after 12 months of treatment. Key secondary end points were a score of 40 or higher on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; range, 0 to 64, with higher scores indicating better motor function), an increase of at least 4 points from baseline in the CHOP-INTEND score, a motor-milestone response as measured by Section 2 of the Hammersmith Infant Neurological Examination (HINE-2), and survival without permanent ventilation. For the secondary end points, comparisons were made with the upper boundary of 90% confidence intervals for natural-history data from 40 infants with type 1 SMA. RESULTS A total of 41 infants were enrolled. After 12 months of treatment, 12 infants (29%) were able to sit without support for at least 5 seconds, a milestone not attained in this disorder. The percentages of infants in whom the key secondary end points were met as compared with the upper boundary of confidence intervals from historical controls were 56% as compared with 17% for a CHOP-INTEND score of 40 or higher, 90% as compared with 17% for an increase of at least 4 points from baseline in the CHOP-INTEND score, 78% as compared with 12% for a HINE-2 motor-milestone response, and 85% as compared with 42% for survival without permanent ventilation (P

Published
2021

16. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Author

Darras, Basil T., primary, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Bruno, Claudio, additional, Vlodavets, Dmitry, additional, Wang, Yi, additional, El-Khairi, Muna, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Khwaja, Omar, additional, Kletzl, Heidemarie, additional, Scalco, Renata S., additional, Fontoura, Paulo, additional, and Servais, Laurent, additional

Published
2021
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17. FIREFISH Part 2: 24-month Efficacy and Safety of Risdiplam in Infants with Type 1 Spinal Muscular Atrophy (SMA) (4126)

Author

Darras, Basil T., primary, Masson, Ricardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Vlodavets, Dmitry, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Scalco, Renata S., additional, and Servais, Laurent, additional

Published
2021
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18. Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Author

Selvatici, Rita, primary, Rossi, Rachele, additional, Fortunato, Fernanda, additional, Trabanelli, Cecilia, additional, Sifi, Yamina, additional, Margutti, Alice, additional, Neri, Marcella, additional, Gualandi, Francesca, additional, Szabò, Lena, additional, Fekete, Balint, additional, Angelova, Lyudmilla, additional, Litvinenko, Ivan, additional, Ivanov, Ivan, additional, Vildan, Yurtsever, additional, Iuhas, Oana Alexandra, additional, Vintan, Mihaela, additional, Burloiu, Carmen, additional, Lacramioara, Butnariu, additional, Visa, Gabriela, additional, Epure, Diana, additional, Rusu, Cristina, additional, Vasile, Daniela, additional, Sandu, Magdalena, additional, Vlodavets, Dmitry, additional, Mager, Monica, additional, Kyriakides, Theodore, additional, Delin, Sanja, additional, Lehman, Ivan, additional, Fureš, Jadranka Sekelj, additional, Bojinova, Veneta, additional, Militaru, Mariela, additional, Guergueltcheva, Velina, additional, Burnyte, Birute, additional, Molnar, Maria Judith, additional, Butoianu, Niculina, additional, Bensemmane, Selma Dounia, additional, Makri-Mokrane, Samira, additional, Herczegfalvi, Agnes, additional, Panzaru, Monica, additional, Emandi, Adela Chirita, additional, Lusakowska, Anna, additional, Potulska-Chromik, Anna, additional, Kostera-Pruszczyk, Anna, additional, Shatillo, Andriy, additional, Khelladi, Djawed Bouchenak, additional, Dendane, Oussama, additional, Fang, Mingyan, additional, Lu, Zhiyuan, additional, and Ferlini, Alessandra, additional

Published
2020
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20. FIREFISH Part 2: Efficacy and safety of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA)

Author

Baranello, Giovanni, primary, Servais, Laurent, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Vlodavets, Dmitry, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, El-Khairi, Muna, additional, Fuerst-Recktenwald, Sabine, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Scalco, Renata, additional, and Darras, Basil T., additional

Published
2020
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22. SUNFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Patients with Type 2 or Non-Ambulant Type 3 Spinal Muscular Atrophy (SMA) (1260)

Author

Mercuri, Eugenio, primary, Barisic, Nina, additional, Boespflug-Tanguy, Odile, additional, Deconinck, Nicolas, additional, Kostera-Pruszczyk, Anna, additional, Masson, Riccardo, additional, Mazzone, Elena, additional, Nascimento, Andres, additional, Saito, Kayoko, additional, Vlodavets, Dmitry, additional, Vuillerot, Carole, additional, Fuerst-Recktenwald, Sabine, additional, Fuhrer, Sibylle, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Martin, Carmen, additional, Yeung, Wai Yin, additional, and Day, John W., additional

Published
2020
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23. FIREFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Infants with Type 1 Spinal Muscular Atrophy (SMA) (1302)

Author

Servais, Laurent, primary, Baranello, Giovanni, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Vlodavets, Dmitry, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, El-Khairi, Muna, additional, Fuerst-Recktenwald, Sabine, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Scalco, Renata, additional, and Darras, Basil T., additional

Published
2020
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24. CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene

Author

Egorova, Tatiana V., primary, Zotova, Evgenia D., additional, Reshetov, Denis A., additional, Polikarpova, Anna V., additional, Vassilieva, Svetlana G., additional, Vlodavets, Dmitry V., additional, Gavrilov, Alexey A., additional, Ulianov, Sergey V., additional, Buchman, Vladimir L., additional, and Deykin, Alexei V., additional

Published
2019
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25. MRI in sarcoglycanopathies: a large international cohort study

Author

Tasca, Giorgio, primary, Monforte, Mauro, additional, Díaz-Manera, Jordi, additional, Brisca, Giacomo, additional, Semplicini, Claudio, additional, D’Amico, Adele, additional, Fattori, Fabiana, additional, Pichiecchio, Anna, additional, Berardinelli, Angela, additional, Maggi, Lorenzo, additional, Maccagnano, Elio, additional, Løkken, Nicoline, additional, Marini-Bettolo, Chiara, additional, Munell, Francina, additional, Sanchez, Angel, additional, Alshaikh, Nahla, additional, Voermans, Nicol C, additional, Dastgir, Jahannaz, additional, Vlodavets, Dmitry, additional, Haberlová, Jana, additional, Magnano, Gianmichele, additional, Walter, Maggie C, additional, Quijano-Roy, Susana, additional, Carlier, Robert-Yves, additional, van Engelen, Baziel G M, additional, Vissing, John, additional, Straub, Volker, additional, Bönnemann, Carsten G, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Pegoraro, Elena, additional, Bertini, Enrico, additional, Udd, Bjarne, additional, Ricci, Enzo, additional, and Bruno, Claudio, additional

Published
2017
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28. SUNFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Patients with Type 2 or Non-Ambulant Type 3 Spinal Muscular Atrophy (SMA)

Author

Mercuri, Eugenio, Barisic, Nina, Boespflug-Tanguy, Odile, Deconinck, Nicolas, Kostera-Pruszczyk, Anna, Riccardo Masson, Mazzone, Elena, Nascimento, Andres, Saito, Kayoko, Vlodavets, Dmitry, Vuillerot, Carole, Fuerst-Recktenwald, Sabine, Fuhrer, Sibylle, Gerber, Marianne, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, Yeung, Wai Yin, and Day, John W.

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