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164 results on '"Masson, Riccardo"'

1. Fiberoptic endoscopic evaluation of swallowing (FEES) in children with spinal muscular atrophy type 1: feasibility, swallowing safety and efficacy, and dysphagia phenotype

Author: Mozzanica, Francesco, Pizzorni, Nicole, Gitto, Marco, Dosi, Claudia, Mandelli, Anna, Gandolfi, Sofia, Campari, Alessandro, Masson, Riccardo, and Schindler, Antonio
Published: 2024
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2. The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.

Author: Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, DAngelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, DAmico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, Hoffman, Eric, Pegoraro, Elena, and McDonald, Craig
Subjects: Duchenne muscular dystrophy, LTBP4, dilated cardiomyopathy, genetic modifiers, glucocorticoid treatment, Humans, Dystrophin, Haplotypes, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Muscular Dystrophy, Duchenne, Cardiomyopathies, Protein Isoforms, Latent TGF-beta Binding Proteins
Abstract: BACKGROUND: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes. METHODS AND RESULTS: We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS). Using generalized estimating equation (GEE) models, we estimated the yearly rate of decrease of EF (-0.80%) and SF (-0.41%), while EDV increase was not significantly associated with age. Utilizing a multivariate generalized estimating equation (GEE) model we observed that mutations preserving the expression of the C-terminal Dp71 isoform of dystrophin were correlated with decreased EDV (-11.01 mL/m2, p = 0.03) while for dp116 were correlated with decreased EF (-4.14%, p =
Published: 2024

3. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

Author: Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, and McDonald, Craig
Subjects: CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity
Abstract: Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.
Published: 2022

4. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author: Acsadi, Gyula, Baranello, Giovanni, Blaschek, Astrid, Brandsema, John, Brogna, Claudia, Bruno, Claudio, Connolly, Anne, de Groot, Imelda, De Waele, Liesbeth, Finanger, Erika, Finkel, Richard, Gidaro, Teresa, Guglieri, Michaela, Harper, Amy, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Magri, Francesca, Manousakis, Georgios, Masson, Riccardo, Monduy, Migvis, Muelas Gomez, Nuria, Munell, Francina, Nascimento, Andres, Nevo, Yoram, Pereon, Yann, Phan, Han, Sansone, Valeria, Scoto, Mariacristina, Vucinic, Dragana, Willis, Tracey, Mercuri, Eugenio, Vilchez, Juan J, Boespflug-Tanguy, Odile, Zaidman, Craig M, Mah, Jean K, Goemans, Nathalie, Müller-Felber, Wolfgang, Niks, Erik H, Schara-Schmidt, Ulrike, Bertini, Enrico, Comi, Giacomo P, Mathews, Katherine D, Servais, Laurent, Vandenborne, Krista, Johannsen, Jessika, Messina, Sonia, Spinty, Stefan, McAdam, Laura, Selby, Kathryn, Byrne, Barry, Laverty, Chamindra G, Carroll, Kevin, Zardi, Giulia, Cazzaniga, Sara, Coceani, Nicoletta, Bettica, Paolo, and McDonald, Craig M
Published: 2024
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5. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study

Author: Coratti, Giorgia, Pane, Marika, Brogna, Claudia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria A., Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Sframeli, Maria, Catteruccia, Michela, Cicala, Gianpaolo, Capasso, Anna, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Scutifero, Marianna, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Nigro, Vincenzo, Politano, Luisa, and Mercuri, Eugenio
Published: 2024
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6. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author: Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella, Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, and Mercuri, Eugenio
Published: 2023
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7. Genetic modifiers of respiratory function in Duchenne muscular dystrophy.

Author: Bello, Luca, DAngelo, Grazia, Villa, Matteo, Fusto, Aurora, Vianello, Sara, Merlo, Beatrice, Sabbatini, Daniele, Barp, Andrea, Gandossini, Sandra, Magri, Francesca, Comi, Giacomo, Pedemonte, Marina, Tacchetti, Paola, Lanzillotta, Valentina, Trucco, Federica, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Albamonte, Emilio, De Mattia, Elisa, Rao, Fabrizio, Sansone, Valeria, Previtali, Stefano, Messina, Sonia, Vita, Gian, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Vianello, Andrea, Bruno, Claudio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Pegoraro, Elena, and McDonald, Craig
Subjects: Adolescent, Adult, CD40 Antigens, Child, Child, Preschool, Dystrophin, Follow-Up Studies, Glucocorticoids, Humans, Male, Muscular Dystrophy, Duchenne, Osteopontin, Respiratory Function Tests, Respiratory Insufficiency, Retrospective Studies, Vital Capacity, Young Adult
Abstract: OBJECTIVE: Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal muscle. We collected pulmonary function testing (PFT) data from a large retrospective cohort followed at Centers collaborating in the Italian DMD Network. Furthermore, we analyzed PFT associations with different DMD mutation types, and with genetic variants in SPP1, LTBP4, CD40, and ACTN3, known to modify skeletal muscle weakness in DMD. Genetic association findings were independently validated in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). METHODS AND RESULTS: Generalized estimating equation analysis of 1852 PFTs from 327 Italian DMD patients, over an average follow-up time of 4.5 years, estimated that forced vital capacity (FVC) declined yearly by -4.2%, forced expiratory volume in 1 sec by -5.0%, and peak expiratory flow (PEF) by -2.9%. Glucocorticoid (GC) treatment was associated with higher values of all PFT measures (approximately + 15% across disease stages). Mutations situated 3 of DMD intron 44, thus predicted to alter the expression of short dystrophin isoforms, were associated with lower (approximately -6%) PFT values, a finding independently validated in the CINRG-DNHS. Deletions amenable to skipping of exon 51 and 53 were independently associated with worse PFT outcomes. A meta-analysis of the two cohorts identified detrimental effects of SPP1 rs28357094 and CD40 rs1883832 minor alleles on both FVC and PEF. INTERPRETATION: These findings support GC efficacy in delaying respiratory insufficiency, and will be useful for the design and interpretation of clinical trials focused on respiratory endpoints in DMD.
Published: 2020

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: 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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9. Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study

Author: Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S., and Darras, Basil T.
Published: 2022
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10. 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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11. The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review

Author: Dosi, Claudia, primary and Masson, Riccardo, additional
Published: 2024
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12. Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study

Author: Buchignani, Bianca, primary, Cicala, Gianpaolo, additional, Cumbo, Francesca, additional, Ricci, Martina, additional, Capasso, Anna, additional, Ticci, Chiara, additional, Mazzanti, Sara, additional, Brolatti, Noemi, additional, Tosi, Michele, additional, Dosi, Claudia, additional, Antonaci, Laura, additional, Coratti, Giorgia, additional, Pera, Maria Carmela, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Berti, Beatrice, additional, Frongia, Anna Lia, additional, Sacchini, Michele, additional, Bruno, Claudio, additional, Masson, Riccardo, additional, D’Amico, Adele, additional, Battini, Roberta, additional, Pane, Marika, additional, and Mercuri, Eugenio, additional
Published: 2024
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13. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Author: Seferian, A., De Lucia, S., Tachibana, S., Jollet, A., Mouffak, S., Pedemonte, M., Brolatti, N., Morando, S., Vanlander, A., De Vos, E., Tahon, V., Govoni, A., Magri, F., Comi, G., Foa, M., Parente, V., Buscemi, L., Dal Farra, F., Schneider, O., Jonas, A., Defeldre, A.C., Pagliano, E., Zanin, R., Arnoldi, M.T., Schembri, V., Del Sole, M., Mandelli, A., Pera, M.C., Antonaci, L., Coratti, G., de Sanctis, R., Pane, M., Scoto, M., Groves, K., Edel, L., Abel, F., Van Ruiten, H., Lofra, R.M., Thompson, E., Mercuri, Eugenio, Muntoni, Francesco, Baranello, Giovanni, Masson, Riccardo, Boespflug-Tanguy, Odile, Bruno, Claudio, Corti, Stefania, Daron, Aurore, Deconinck, Nicolas, Servais, Laurent, Straub, Volker, Ouyang, Haojun, Chand, Deepa, Tauscher-Wisniewski, Sitra, Mendonca, Nuno, and Lavrov, Arseniy
Published: 2021
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14. Motor learning in unilateral cerebral palsy and the influence of corticospinal tract reorganization

Author: Carneiro, Maíra I.S., Russo, Cristina, Masson, Riccardo, Rossi Sebastiano, Davide, Baranello, Giovanni, Turati, Chiara, and Bolognini, Nadia
Published: 2020
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15. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author: Baranello, Giovanni, primary, Roy, Susana Quijano, additional, Servais, Laurent, additional, Munell, Francina, additional, Molinero, Mireia Alvarez, additional, Natera de Benito, Daniel, additional, Nascimento, Andres, additional, Gomez-Andres, David, additional, Comellas, Laura Costa, additional, Exposito, Jessica, additional, Tizzano, Eduardo F., additional, Cuppen, Inge, additional, Van der Pol, Ludo, additional, Aleman, Alberto, additional, Lochmuller, Hanns, additional, McMillan, Hugh, additional, Kirschner, Janbernd, additional, Müller, Cornelia, additional, Oskoui, Maryam, additional, Masson, Riccardo, additional, Bruno, Claudio, additional, Gonorazky, Hernan D., additional, Tesi-Rocha, Carolina, additional, Yaworski, Amanda Marie, additional, Zanoteli, Edmar, additional, Mendonca, Rodrigo, additional, D'Amico, Adele, additional, Cumbo, Francesca, additional, Tosi, Michele, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Nardes, Flavia, additional, Prufer, Alexandra, additional, Arci, Brenda Klemm, additional, Pascual, Samuel Ignacio, additional, Fattal-Valevski, Aviva, additional, De Waele, Liesbeth, additional, Deconinck, Nicolas, additional, Farrar, Michelle, additional, Haberlova, Jana, additional, Gomez-Garcia de la Banda, Marta, additional, Childs, Anne-Marie, additional, Martos, Cristina, additional, Wraige, Elizabeth, additional, Gowda, Vasantha, additional, Illingworth, Marjorie, additional, Ong, Min, additional, Majundar, Anirban, additional, Hughes, Imelda, additional, Torne, Krupa, additional, Willis, Tracey, additional, Ramdas, Sithara, additional, De Goede, Christian, additional, Erbas, Yasemin, additional, Brusa, Chiara, additional, Scoto, Mariacristina, additional, and Muntoni, Francesco, additional
Published: 2023
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16. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author: Pane, Marika, primary, Berti, Beatrice, additional, Capasso, Anna, additional, Coratti, Giorgia, additional, Varone, Antonio, additional, D’Amico, Adele, additional, Messina, Sonia, additional, Masson, Riccardo, additional, Sansone, Valeria Ada, additional, Donati, Maria Alice, additional, Agosto, Caterina, additional, Bruno, Claudio, additional, Ricci, Federica, additional, Pini, Antonella, additional, Gagliardi, Delio, additional, Filosto, Massimiliano, additional, Corti, Stefania, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Onesimo, Roberta, additional, De Sanctis, Roberto, additional, Ricci, Martina, additional, Bitetti, Ilaria, additional, Sframeli, Maria, additional, Dosi, Claudia, additional, Albamonte, Emilio, additional, Ticci, Chiara, additional, Brolatti, Noemi, additional, Bertini, Enrico, additional, Finkel, Richard, additional, Mercuri, Eugenio, additional, Pera, Maria Carmela, additional, Bravetti, Chiara, additional, Piastra, Marco, additional, Genovese, Orazio, additional, Cicala, Gianpaolo, additional, Forcina, Nicola, additional, Carnicella, Sara, additional, Stanca, Giulia, additional, Sacchini, Michele, additional, Catteruccia, Michela, additional, Tosi, Michele, additional, Cutrera, Renato, additional, Cherchi, Claudio, additional, Chiarini, Maria Beatrice, additional, Salmin, Francesca, additional, Pedemonte, Marina, additional, Govoni, Alessandra, additional, Mizzoni, Irene, additional, Morando, Simone, additional, Zanin, Riccardo, additional, Rolle, Enrica, additional, Salomon, Eleonora, additional, Giannotta, Melania, additional, Scarpini, Gaia, additional, Toscano, Antonio, additional, Gitto, Eloisa, additional, Materia, Roberto, additional, and D’Alessandro, Rossella, additional
Published: 2023
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17. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Author: Pane, Marika, primary, Coratti, Giorgia, additional, Brogna, Claudia, additional, Bovis, Francesca, additional, D’Amico, Adele, additional, Pegoraro, Elena, additional, Bello, Luca, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Ferraroli, Elisabetta, additional, Mazzone, Elena Stacy, additional, Fanelli, Lavinia, additional, Messina, Sonia, additional, Catteruccia, Michela, additional, Cicala, Gianpaolo, additional, Ricci, Martina, additional, Frosini, Silvia, additional, De Luca, Giacomo, additional, Rolle, Enrica, additional, De Sanctis, Roberto, additional, Forcina, Nicola, additional, Norcia, Giulia, additional, Passamano, Luigia, additional, Gardani, Alice, additional, Pini, Antonella, additional, Monaco, Giulia, additional, D’Angelo, Maria Grazia, additional, Capasso, Anna, additional, Leone, Daniela, additional, Zanin, Riccardo, additional, Vita, Gian Luca, additional, Panicucci, Chiara, additional, Bruno, Claudio, additional, Mongini, Tiziana, additional, Ricci, Federica, additional, Berardinelli, Angela, additional, Battini, Roberta, additional, Masson, Riccardo, additional, Baranello, Giovanni, additional, Dosi, Claudia, additional, Bertini, Enrico, additional, Politano, Luisa, additional, and Mercuri, Eugenio, additional
Published: 2023
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18. The IAAM LTBP4Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy

Author: Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni Umberto, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, D’Angelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian Luca, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, D’Amico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, McDonald, Craig M., Hoffman, Eric P., and Pegoraro, Elena
Abstract: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMDmutation type and location, and variants in other genes. We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS). Using generalized estimating equation (GEE) models, we estimated the yearly rate of decrease of EF (–0.80%) and SF (–0.41%), while EDV increase was not significantly associated with age. Utilizing a multivariate generalized estimating equation (GEE) model we observed that mutations preserving the expression of the C-terminal Dp71 isoform of dystrophin were correlated with decreased EDV (–11.01 mL/m2, p = 0.03) while for dp116 were correlated with decreased EF (–4.14%, p = <0.001). The rs10880 genotype in the LTBP4gene, previously shown to prolong ambulation, was also associated with increased EF and decreased EDV (+3.29%, p = 0.002, and –10.62 mL/m2, p = 0.008) with a recessive model. We quantitatively describe the progression of systolic dysfunction progression in DMD, confirm the effect of distal dystrophin isoform expression on the dystrophin-deficient heart, and identify a strong effect of LTBP4genotype of DCM in DMD.
Published: 2024
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19. Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

Author: Ricci, Martina, Cicala, Gianpaolo, Capasso, Anna, Coratti, Giorgia, Fiori, Stefania, Cutrona, Costanza, D'Amico, Adele, Sansone, Valeria A., Bruno, Claudio, Messina, Sonia, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Masson, Riccardo, Filosto, Massimiliano, Comi, Giacomo P., Corti, Stefania, Ronchi, Dario, and Maggi, Lorenzo
Subjects: SPINAL muscular atrophy, NATURAL history, PHENOTYPES, PHENOTYPIC plasticity, ASYMPTOMATIC patients
Abstract: Objective: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. Methods: Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). Results: The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow‐up = 36.9 ± 19 years). Six of the 169 patients were presymptomatic, 8 were classified as type II, 145 as type III (38 type IIIA and 107 type IIIB), and 8 as type IV. The remaining 2 patients were asymptomatic adults identified because of a familial case. The cross‐sectional functional data showed a reduction of scores with increasing age. Over 35% of the type III and 25% of the type IV lost ambulation (mean age = 26.8 years ± 16.3 SD). The risk of loss of ambulation was significantly associated with SMA type (p < 0.0001), with patients with IIIB and IV less likely to lose ambulation compared to type IIIA. There was an overall gender effect with a smaller number of women and a lower risk for women to lose ambulation. This was significant in the adult (p = 0.009) but not in the pediatric cohort (p = 0.43). Interpretation: Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age. ANN NEUROL 2023;94:1126–1135 [ABSTRACT FROM AUTHOR]
Published: 2023
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20. Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function

Author: Pane, Marika, Coratti, Giorgia, Sansone, Valeria A, Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, Brolatti, Noemi, Mizzoni, Irene, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Salmin, Francesca, De Sanctis, Roberto, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Ricci, Federica, Cavallina, Ilaria, Masson, Riccardo, Zanin, Riccardo, Agosto, Caterina, Salomon, Eleonora, Bruno, Irene, Magnolato, Andrea, Bertini, Enrico, Tiziano, Francesco Danilo, Bovis, Francesca, and Mercuri, Eugenio
Subjects: motor function, longitudinal study, nusinersen, long-term results, spinal muscular atrophy
Published: 2023

21. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Author: Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Bovis, Francesca, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria, Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Catteruccia, Michela, Cicala, Gianpaolo, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Capasso, Anna, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico Silvio, Politano, Luisa, and Mercuri, Eugenio Maria
Subjects: Duchenne muscular dystrophy, functional abilities, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Neurology, ambulatory status, PUL 2.0, performance of upper limb, Neurology (clinical)
Abstract: Background: The performance of upper limb 2.0 (PUL) is widely used to assess upper limb function in DMD patients. The aim of the study was to assess 24 month PUL changes in a large cohort of DMD patients and to establish whether domains changes occur more frequently in specific functional subgroups. Methods: The PUL was performed in 311 patients who had at least one pair of assessments at 24 months, for a total of 808 paired assessments. Ambulant patients were subdivided according to the ability to walk: >350, 250–350, ≤250 meters. Non ambulant patients were subdivided according to the time since they lost ambulation: 5 years. Results: At 12 months, the mean PUL 2.0 change on all the paired assessments was –1.30 (–1.51––1.05) for the total score, –0.5 (–0.66––0.39) for the shoulder domain, –0.6 (–0.74––0.5) for the elbow domain and –0.1 (–0.20––0.06) for the distal domain. At 24 months, the mean PUL 2.0 change on all the paired assessments was –2.9 (–3.29––2.60) for the total score, –1.30 (–1.47––1.09) for the shoulder domain, –1.30 (–1.45––1.11) for the elbow domain and –0.4 (–1.48––1.29) for the distal domain. Changes at 12 and 24 months were statistically significant between subgroups with different functional abilities for the total score and each domain (p < 0.001). Conclusion: There were different patterns of changes among the functional subgroups in the individual domains. The time of transition, including the year before and after loss of ambulation, show the peak of negative changes in PUL total scores that reflect not only loss of shoulder but also of elbow activities. These results suggest that patterns of changes should be considered at the time of designing clinical trials.
Published: 2023

22. Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment.

Author: Mercuri, Eugenio, Baranello, Giovanni, Boespflug‐Tanguy, Odile, De Waele, Liesbeth, Goemans, Nathalie, Kirschner, Janbernd, Masson, Riccardo, Mazzone, Elena S., Pechmann, Astrid, Pera, Maria Carmela, Vuillerot, Carole, Bader‐Weder, Silvia, Gerber, Marianne, Gorni, Ksenija, Hoffart, Janine, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., and Yeung, Wai Yin
Subjects: SPINAL muscular atrophy, BLOOD proteins, MOTOR neurons, BODY weight
Abstract: Background and purpose: Spinal muscular atrophy (SMA) is caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene. Risdiplam is an orally administered molecule that modifies SMN2 pre‐mRNA splicing to increase functional SMN protein. Methods: SUNFISH Part 1 was a dose‐finding study conducted in 51 individuals with types 2 and 3 SMA aged 2–25 years. A dose‐escalation method was used to identify the appropriate dose for the subsequent pivotal Part 2. Individuals were randomized (2:1) to risdiplam or placebo at escalating dose levels for a minimum 12‐week, double‐blind, placebo‐controlled period, followed by treatment for 24 months. The dose selection for Part 2 was based on safety, tolerability, pharmacokinetic, and pharmacodynamic data. Exploratory efficacy was also measured. Results: There was no difference in safety findings for all assessed dose levels. A dose‐dependent increase in blood SMN protein was observed; a median twofold increase was obtained within 4 weeks of treatment initiation at the highest dose level. The increase in SMN protein was sustained over 24 months of treatment. Exploratory efficacy showed improvement or stabilization in motor function. The pivotal dose selected for Part 2 was 5 mg for patients with a body weight ≥20 kg or 0.25 mg/kg for patients with a body weight <20 kg. Conclusions: SUNFISH Part 1 demonstrated a twofold increase in SMN protein after treatment with risdiplam. The observed safety profile supported the initiation of the pivotal Part 2 study. The long‐term efficacy and safety of risdiplam are being assessed with ongoing treatment. [ABSTRACT FROM AUTHOR]
Published: 2023
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23. 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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24. Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment

Author: Bonanno, Silvia, primary, Cavalcante, Paola, additional, Salvi, Erika, additional, Giagnorio, Eleonora, additional, Malacarne, Claudia, additional, Cattaneo, Marco, additional, Andreetta, Francesca, additional, Venerando, Anna, additional, Pensato, Viviana, additional, Gellera, Cinzia, additional, Zanin, Riccardo, additional, Arnoldi, Maria Teresa, additional, Dosi, Claudia, additional, Mantegazza, Renato, additional, Masson, Riccardo, additional, Maggi, Lorenzo, additional, and Marcuzzo, Stefania, additional
Published: 2022
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25. Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review

Author: Masson, Riccardo, Pagliano, Emanuela, and Baranello, Giovanni
Published: 2017
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26. Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.

Author: Brogna, Claudia, Pane, Marika, Coratti, Giorgia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria Ada Maria, Albamonte, Emilio, Messina, Sonia, Pini, Antonella, D'Angelo, Maria Grazia, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica Silvia, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Bertini, Enrico Silvio, Politano, Luisa, and Mercuri, Eugenio
Subjects: TREATMENT of Duchenne muscular dystrophy, STATISTICS, ANALYSIS of variance, ARM, COMPARATIVE studies, SEVERITY of illness index, GENE therapy, GENES, RESEARCH funding, DESCRIPTIVE statistics, REPEATED measures design, DATA analysis, DATA analysis software, LONGITUDINAL method
Abstract: Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study was to evaluate changes in upper limb functions in patients carrying mutations amenable to skipping exons 44, 45, 51 and 53. Methods: All DMD patients were assessed using the PUL 2.0 for at least 2 years, focusing on 24-month paired visits in those with mutations eligible for skipping exons 44, 45, 51 and 53. Results: 285 paired assessments were available. The mean total PUL 2.0 12-month change was −0.67 (2.80), −1.15 (3.98), −1.46 (3.37) and −1.95 (4.04) in patients carrying mutations amenable to skipping exon 44, 45, 51 and 53, respectively. The mean total PUL 2.0 24-month change was −1.47 (3.73), −2.78 (5.86), −2.95 (4.56) and −4.53 (6.13) in patients amenable to skipping exon 44, 45, 51 and 53, respectively. The difference in PUL 2.0 mean changes among the type of exon skip class for the total score was not significant at 12 months but was significant at 24 months for the total score (p < 0.001), the shoulder (p = 0.01) and the elbow domain (p < 0.001), with patients amenable to skipping exon 44 having smaller changes compared to those amenable to skipping exon 53. There was no difference within ambulant or non-ambulant cohorts when subdivided by exon skip class for the total and subdomains score (p > 0.05). Conclusions: Our results expand the information on upper limb function changes detected by the PUL 2.0 in a relatively large group of DMD patients with distinct exon-skipping classes. This information can be of help when designing clinical trials or in the interpretation of the real world data including non-ambulant patients. [ABSTRACT FROM AUTHOR]
Published: 2023
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27. Acute Benign Myositis Following Onasemnogene Abeparvovec Therapy in Type 1 Spinal Muscular Atrophy

Author: Dosi, Claudia, primary, Tozzo, Alessandra, additional, and Masson, Riccardo, additional
Published: 2022
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28. Pooled Safety Data from the Risdiplam Clinical Trial Development Program (P18-5.001)

Author: Darras, Basil T., primary, Chiriboga, Claudia A., additional, Servais, Laurent, additional, Baranello, Giovanni, additional, Bertini, Enrico, additional, Day, John W., additional, Deconinck, Nicolas, additional, Fischer, Dirk, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Wang, Yi, additional, Bader-Weder, Silvia, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, McIver, Tammy, additional, Scalco, Renata, additional, and Mercuri, Eugenio, additional
Published: 2022
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29. 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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30. Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy

Author: Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, D'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'Angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico Silvio, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio Maria, Fanelli, Lavinia, Nicola, Forcina, Giulia, Stanca, Sara, Carnicella, De Sanctis, Roberto, Brogna, Claudia, Cutrona, Costanza, Anna Lia Frongia, Pera, Maria Carmela, Laura, Antonaci, Gloria, Ferrantini, Beatrice, Berti, Daniela, Leone, Concetta, Palermo, Melania, Giannotta, Giulia, Colia, Adelina, Carlesi, Giacomo De Luca, Irene, Mizzoni, Annamaria, Bonetti, Michela, Catteruccia, Vincenzo Di Bella, Maria, Sframeli, Massimo, Russo, Enrica, Rolle, Alice, Gardani, Stefano, Parravicini, Riccardo, Zanin, Maria Teresa Arnoldi, Claudia, Dosi, Ilaria, Pedrinelli, Giovanni, Baranello, Emilio, Albamonte, Francesca, Salmin, and Simone, Morando
Subjects: Male, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Settore ING-INF/05 - SISTEMI DI ELABORAZIONE DELLE INFORMAZIONI, Duchenne, Dystrophin, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Adrenal Cortex Hormones, Child, Preschool, Mutation, Humans, Protein Isoforms, Muscular Dystrophy, Child, Preschool
Abstract: The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Assessment between the age of 4 and 7 years. The study includes 951 North Star assessments from 226 patients. Patients were subdivided according to age, to the site of mutation and therefore to the involvement of different brain dystrophin isoforms and to corticosteroids duration. There was a difference in the maximum North Star score achieved among patients with different brain dystrophin isoforms (p = 0.007). Patients with the involvement of Dp427, Dp140 and Dp71, had lower maximum NSAA scores when compared to those with involvement of Dp427 and Dp140 or of Dp427 only. The difference in the age when the maximum score was achieved in the different subgroups did not reach statistical significance. Using a linear regression model on all assessments we found that each of the three variables, age, site of mutation and corticosteroid treatment had an influence on the NSAA values and their progression over time. A second analysis, looking at 12-month changes showed that within this time interval the magnitude of changes was related to corticosteroid treatment but not to site of mutation. Our findings suggest that each of the considered variables appear to play a role in the progression of North Star scores in patients between the age of 4 and 7 years and that these should be carefully considered in the trial design of boys in this age range.
Published: 2022

31. 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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32. Poster 14.03.2022 CA

Author: Vai, Silvia, Alberio, Chiara, Mirsepanj, Romina, Broggi, Francesca, Chiodini, Iacopo, Dosi, Claudia, Masson, Riccardo, and Falchetti, Alberto
Published: 2022
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33. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

Author: Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'amico, Adele, Sansone, Valeria, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, and Trabacca, Antonio
Published: 2023
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34. 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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35. 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

36. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author: Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa, Willis, Tracey, Ramdas, Sithara, De Goede, Christian, Erbas, Yasemin, Brusa, Chiara, Scoto, Mariacristina, Muntoni, Francesco, and Baranello, Giovanni
Published: 2024
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37. Dysregulation of myomiRs as common pathogenic feature associated with muscle atrophy in ALS, SMA and SBMA: Evidence from animal models and human patients

Author: Malacarne, Claudia, Galbiati, Mariarita, Giagnorio, Eleonora, Cavalcante, Paola, Salerno, Franco, Andreetta, Francesca, Cagnoli, Cinzia, Taiana, Michela, Nizzardo, Monica, Corti, Stefania, Pensato, Viviana, Venerando, Anna, Gellera, Cinzia, Fenu, Silvia, Pareyson, Davide, Masson, Riccardo, Maggi, Lorenzo, Bella, Eleonora Dalla, Lauria, Giuseppe, Mantegazza, Renato, Poletti, Angelo, Bonanno, Silvia, and Marcuzzo, Stefania
Published: 2021
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38. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Author: Mercuri, Eugenio, primary, Muntoni, Francesco, additional, Baranello, Giovanni, additional, Masson, Riccardo, additional, Boespflug-Tanguy, Odile, additional, Bruno, Claudio, additional, Corti, Stefania, additional, Daron, Aurore, additional, Deconinck, Nicolas, additional, Servais, Laurent, additional, Straub, Volker, additional, Ouyang, Haojun, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, Mendonca, Nuno, additional, Lavrov, Arseniy, additional, Seferian, A., additional, De Lucia, S., additional, Tachibana, S., additional, Jollet, A., additional, Mouffak, S., additional, Pedemonte, M., additional, Brolatti, N., additional, Morando, S., additional, Vanlander, A., additional, De Vos, E., additional, Tahon, V., additional, Govoni, A., additional, Magri, F., additional, Comi, G., additional, Foa, M., additional, Parente, V., additional, Buscemi, L., additional, Dal Farra, F., additional, Schneider, O., additional, Jonas, A., additional, Defeldre, A.C., additional, Pagliano, E., additional, Zanin, R., additional, Arnoldi, M.T., additional, Schembri, V., additional, Del Sole, M., additional, Mandelli, A., additional, Pera, M.C., additional, Antonaci, L., additional, Coratti, G., additional, de Sanctis, R., additional, Pane, M., additional, Scoto, M., additional, Groves, K., additional, Edel, L., additional, Abel, F., additional, Van Ruiten, H., additional, Lofra, R.M., additional, and Thompson, E., additional
Published: 2021
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39. 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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40. Risdiplam in Type 1 Spinal Muscular Atrophy

Author: Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicolas, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio Maria, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent, FIREFISH Working Group: Joseph, J Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Edmar, Zanoteli, 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, Wang, Yi, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Hui, Xiong, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, 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, Bianchi Marzoli, Stefania, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Bissoli, Claudio Bruno, 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, 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, Maria, Mazurkiewicz-Bełdzińska, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Dmitry, Vlodavets, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, 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, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young, Giovanni, Baranello, Basil T, Darra, John W, Day, Nicolas, Deconinck, Andrea, Klein, Riccardo, Masson, Eugenio, Mercuri, Kristy, Rose, Muna, El-Khairi, Marianne, Gerber, Ksenija, Gorni, Omar, Khwaja, Heidemarie, Kletzl, Renata S, Scalco, Timothy, Seabrook, Paulo, Fontoura, Laurent, Servai, and Ambrosio, Lucia
Subjects: Male, Oral, Neuromuscular disease, RNA Splicing, Administration, Oral, 030204 cardiovascular system & hematology, Spinal Muscular Atrophies of Childhood, Bioinformatics, Dose-Response Relationship, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Risdiplam, Type 1 Spinal Muscular Atrophy, 030212 general & internal medicine, Progression-free survival, 610 Medicine & health, Respiratory Tract Infections, Dose-Response Relationship, Drug, business.industry, Infant, Survival of motor neuron, General Medicine, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, Progression-Free Survival, Clinical trial, Dose–response relationship, Settore MED/26 - NEUROLOGIA, Pyrimidines, nervous system, Neuromuscular Agents, RNA splicing, Administration, Female, Drug, business, Respiratory Insufficiency, Azo Compounds
Abstract: Background: Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional 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. Methods: We report the results of part 1 of a two-part, phase 2-3, open-label study of risdiplam in infants 1 to 7 months of age who had type 1 spinal muscular atrophy, which is characterized by the infant not attaining the ability to sit without support. Primary outcomes were safety, pharmacokinetics, pharmacodynamics (including the blood SMN protein concentration), and the selection of the risdiplam dose for part 2 of the study. Exploratory outcomes included the ability to sit without support for at least 5 seconds. Results: A total of 21 infants were enrolled. Four infants were in a low-dose cohort and were treated with a final dose at month 12 of 0.08 mg of risdiplam per kilogram of body weight per day, and 17 were in a high-dose cohort and were treated with a final dose at month 12 of 0.2 mg per kilogram per day. The baseline median SMN protein concentrations in blood were 1.31 ng per milliliter in the low-dose cohort and 2.54 ng per milliliter in the high-dose cohort; at 12 months, the median values increased to 3.05 ng per milliliter and 5.66 ng per milliliter, respectively, which represented a median of 3.0 times and 1.9 times the baseline values in the low-dose and high-dose cohorts, respectively. Serious adverse events included pneumonia, respiratory tract infection, and acute respiratory failure. At the time of this publication, 4 infants had died of respiratory complications. Seven infants in the high-dose cohort and no infants in the low-dose cohort were able to sit without support for at least 5 seconds. The higher dose of risdiplam (0.2 mg per kilogram per day) was selected for part 2 of the study. Conclusions: In infants with type 1 spinal muscular atrophy, treatment with oral risdiplam led to an increased expression of functional SMN protein in the blood. (Funded by F. Hoffmann-La Roche; ClinicalTrials.gov number, NCT02913482.).
Published: 2021

41. Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients

Author: Malacarne, Claudia, primary, Galbiati, Mariarita, additional, Giagnorio, Eleonora, additional, Cavalcante, Paola, additional, Salerno, Franco, additional, Andreetta, Francesca, additional, Cagnoli, Cinza, additional, Taiana, Michela, additional, Nizzardo, Monica, additional, Corti, Stefania, additional, Pensato, Viviana, additional, Venerando, Anna, additional, Gellera, Cinzia, additional, Fenu, Silvia, additional, Pareyson, Davide, additional, Masson, Riccardo, additional, Maggi, Lorenzo, additional, Dalla Bella, Eleonora, additional, Lauria, Giuseppe, additional, Mantegazza, Renato, additional, Bernasconi, Pia, additional, Poletti, Angelo, additional, Bonanno, Silvia, additional, and Marcuzzo, Stefania, additional
Published: 2021
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42. Pooled Safety Data from the Risdiplam Clinical Trial Development Program (4184)

Author: Servais, Laurent, primary, Baranello, Giovanni, additional, Bertini, Enrico, additional, Chiriboga, Claudia, additional, Darras, Basil T., additional, Day, John W., additional, Deconinck, Nicolas, additional, Fischer, Dirk, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Wang, Yi, additional, Bader-Weder, Silvia, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, McIver, Tammy, additional, Scalco, Renata S., additional, and Mercuri, Eugenio, additional
Published: 2021
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43. Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation

Author: Foppiani, Andrea, primary, De Amicis, Ramona, additional, Leone, Alessandro, additional, Ravella, Simone, additional, Bedogni, Giorgio, additional, Battezzati, Alberto, additional, D'Amico, Adele, additional, Bertini, Enrico, additional, Pedemonte, Marina, additional, Bruno, Claudio, additional, Agosto, Caterina, additional, Mastella, Chiara, additional, Giaquinto, Ester, additional, Masson, Riccardo, additional, Baranello, Giovanni, additional, and Bertoli, Simona, additional
Published: 2021
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44. Risdiplam in Type 1 Spinal Muscular Atrophy

Author: Baranello, Giovanni, primary, Darras, Basil T., additional, Day, John W., additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mercuri, Eugenio, additional, Rose, Kristy, additional, El-Khairi, Muna, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Khwaja, Omar, additional, Kletzl, Heidemarie, additional, Scalco, Renata S., additional, Seabrook, Timothy, additional, Fontoura, Paulo, additional, and Servais, Laurent, additional
Published: 2021
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45. Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

Author: Cinquina, Valeria, primary, Ciaccio, Claudia, additional, Venturini, Marina, additional, Masson, Riccardo, additional, Ritelli, Marco, additional, and Colombi, Marina, additional
Published: 2020
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46. 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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47. Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly

Author: Ciaccio, Claudia, primary, Cellini, Elena, additional, Guerrini, Renzo, additional, Pantaleoni, Chiara, additional, and Masson, Riccardo, additional
Published: 2020
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48. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Author: Maggi, Lorenzo, primary, Brugnoni, Raffaella, additional, Canioni, Eleonora, additional, Tonin, Paola, additional, Saletti, Veronica, additional, Sola, Patrizia, additional, Piccinelli, Stefano Cotti, additional, Colleoni, Lara, additional, Ferrigno, Paola, additional, Pini, Antonella, additional, Masson, Riccardo, additional, Manganelli, Fiore, additional, Lietti, Daniele, additional, Vercelli, Liliana, additional, Ricci, Giulia, additional, Bruno, Claudio, additional, Tasca, Giorgio, additional, Pizzuti, Antonio, additional, Padovani, Alessandro, additional, Fusco, Carlo, additional, Pegoraro, Elena, additional, Ruggiero, Lucia, additional, Ravaglia, Sabrina, additional, Siciliano, Gabriele, additional, Morandi, Lucia, additional, Dubbioso, Raffaele, additional, Mongini, Tiziana, additional, Filosto, Massimiliano, additional, Tramacere, Irene, additional, Mantegazza, Renato, additional, and Bernasconi, Pia, additional
Published: 2020
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49. Predictive energy equations for spinal muscular atrophy type I children

Author: Bertoli, Simona, primary, De Amicis, Ramona, additional, Bedogni, Giorgio, additional, Foppiani, Andrea, additional, Leone, Alessandro, additional, Ravella, Simone, additional, Mastella, Chiara, additional, Baranello, Giovanni, additional, Masson, Riccardo, additional, Bertini, Enrico, additional, D’Amico, Adele, additional, Pedemonte, Marina, additional, Bruno, Claudio, additional, Agosto, Caterina, additional, Giaquinto, Ester, additional, Bassano, Michela, additional, and Battezzati, Alberto, additional
Published: 2020
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50. 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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