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2. Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Albamonte, Emilio, Montes, Jacqueline, Glanzman, Allan M, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, D'Amico, Adele, Catteruccia, Michela, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Salmin, Francesca, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard S., and Mercuri, Eugenio

Published
2024
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3. Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy

Author

Borland, Holly, Moore, Ursula, Dressman, Heather Gordish, Human, Anri, Mayhew, Anna G., Hilsden, Heather, Rufibach, Laura E., Duong, Tina, Maron, Elke, DeWolf, Brittney, Rose, Kristy, Siener, Catherine, Thiele, Simone, Práxedes, Nieves Sanchez-Aguilera, Canal, Aurélie, Holsten, Scott, Sakamoto, Chikako, Pedrosa-Hernández, Irene, Bello, Luca, Alfano, Lindsay N, Lowes, Linda Pax, The Jain COS Consortium, James, Meredith K., and Straub, Volker

Published
2024
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4. 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

5. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M, Montes, Jaqueline, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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6. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Author

Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., and Muntoni, Francesco

Published
2023
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8. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Author

Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, and Rico, Salvador

Published
2023
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9. Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.

Author

Cicala, Gianpaolo, Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Fanelli, Lavinia, Norcia, Giulia, Forcina, Nicola, Mazzone, Elena, Stanca, Giulia, Ferrante, Roberta, Vento, Alessandra, Ferraroli, Elisabetta, Ricci, Martina, Capasso, Anna, Leone, Daniela, Palermo, Concetta, Berti, Beatrice, Cutrona, Costanza, Mahyew, Anna, Duong, Tina, Goemans, Natalie, Vroom, Elizabeth, and Mercuri, Eugenio

Published
2023
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11. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial

Author

Thornton, Charles A, Moxley, Richard Thomas, III, Eichinger, Katy, Heatwole, Chad, Mignon, Laurence, Arnold, W David, Ashizawa, Tetsuo, Day, John W, Dent, Gersham, Tanner, Matthew K, Duong, Tina, Greene, Ericka P, Herbelin, Laura, Johnson, Nicholas E, King, Wendy, Kissel, John T, Leung, Doris G, Lott, Donovan J, Norris, Daniel A, Pucillo, Evan M, Schell, Wendy, Statland, Jeffrey M, Stinson, Nikia, Subramony, Sub H, Xia, Shuting, Bishop, Kathie M, and Bennett, C Frank

Published
2023
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12. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Mc Govern, Eavan, Yazbeck, Elise, Barbier, Magali, Luton, Marie-Pierre, Pousset, Françoise, Hogrel, Jean-Yves, Adanyeguh, Isaac, Then Bergh, Florian, Bergner, Caroline, Unterlauft, Astrid, Roicke, Hannes, Hoffmann, Karl-Titus, Scherlach, Cordula, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Fenu, Silvia, Mauro, Elena, Murphy, Elaine, Krishna, Gauri, Beyene, Tiggy, Sierra, Alba, Quiñoa, Sara, Belen Canovas, Anna, Grosz, Zoltan, Györgyi, Báthori, van de Stadt, S.I., Huffnagel, I.C., van Ballegoij, W.J.C., Voermans, M.M.C., Seyedsadjadi, Reza, Corre, Camille, Godbole, Neha, Grant, Natalie Rose, Brito Pires, Claudia Maria, Trovato, Melissa, Yeh, Nancy, Goodman, Jordan, Keller, Jennifer, Joseph, Chris, Van Haren, Keith, Sakamuri, Sarada, Duong, Tina, Perrone, Lila, Tran, Stephanie, Dunaway Young, Sally, Hashmi, Syed, Köhler, Wolfgang, Engelen, Marc, Eichler, Florian, Lachmann, Robin, Fatemi, Ali, Sampson, Jacinda, Salsano, Ettore, Gamez, Josep, Molnar, Maria Judit, Pascual, Sílvia, Rovira, Maria, Vilà, Anna, Pina, Guillem, Martín-Ugarte, Itziar, Mantilla, Adriana, Pizcueta, Pilar, Rodríguez-Pascau, Laura, Traver, Estefania, Vilalta, Anna, Pascual, María, Martinell, Marc, Meya, Uwe, and Mochel, Fanny

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

Author

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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15. Long‐term natural history in type II and III spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded.

Author

Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M., Montes, Jacqueline, Pasternak, Amy, De Sanctis, Roberto, Dunaway Young, Sally, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Catteruccia, Michela, and Brolatti, Noemi

Subjects
SPINAL muscular atrophy, NATURAL history, GENETIC disorders, GENETIC mutation, FUNCTIONAL status
Abstract

Background and purpose: Spinal muscular atrophy (SMA) is a genetic disorder caused by SMN1 gene mutations. Although studies on available disease‐modifying treatments have reported their efficacy and safety, long‐term natural history data are lacking for comparison. The aim of this prospective study was to report 4‐year changes on the Hammersmith Functional Motor Scale Expanded (HFMSE) in type II and III SMA in relation to several variables such as age, functional status and SMN2 copy number. Methods: The study involves retrospective analysis of prospectively collected data from international datasets (Belgium, Italy, Spain, USA, UK). HFMSE longitudinal changes were analyzed using linear mixed effect models, examining annualized HFMSE change and its association with variables such as age at baseline, sex, motor function, SMN2 copy number. Results: In SMA type II (n = 226), the 4‐year mean change was −2.20 points. The largest mean changes were observed in sitters aged 5–14 years and the lowest in those who lost the ability to sit unsupported. In SMA type III (n = 162), the 4‐year mean change was −2.75 points. The largest mean changes were in those aged 7–15 years, whilst the lowest were in those below 7 and in the SMA type IIIa subgroup over 15. Age and score at baseline were predictive of 4‐year changes. Conclusions: Our findings provide natural history reference data for comparison with long‐term follow‐up of clinical trials or real‐world data, highlighting the need to define patterns of changes in smaller SMA subgroups instead of reporting mean changes across an entire SMA cohort. [ABSTRACT FROM AUTHOR]

Published
2024
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16. 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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17. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Author

Coratti, Giorgia, Carmela Pera, Maria, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, de Sanctis, Roberto, Stacy Mazzone, Elena, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico, Day, John, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S, and Mercuri, Eugenio

Published
2022
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18. Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Author

Lilien, Charlotte, primary, Vrscaj, Eva, additional, Thapaliya, Gita, additional, Deconinck, Nicolas, additional, De Waele, Liesbeth, additional, Duong, Tina, additional, Haberlová, Jana, additional, Kumhera, Markéta, additional, Peirens, Geertrui, additional, Szabo, Lena, additional, Tahon, Valentine, additional, Tang, Whitney J., additional, Benmhammed, Noor, additional, Médard, Laurie, additional, and Servais, Laurent, additional

Published
2024
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19. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

McGrattan, Katlyn, primary, Cerchiari, Antonella, additional, Conway, Eleanor, additional, Berti, Beatrice, additional, Finkel, Richard, additional, Muntoni, Francesco, additional, Mercuri, Eugenio, additional, Fanelli, Lavinia, additional, Coratti, Giorgia, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Trucco, Federica, additional, Latini, Sofia, additional, Bertini, Enrico, additional, d'Amico, Adele, additional, Doglio, Luca, additional, Stimpson, Georgia, additional, Baranello, Giovanni, additional, Scoto, Mariacristina, additional, Rohwer, Annemarie, additional, Edel, Lisa, additional, Lofra, Robert Muni, additional, Bettolo, Chiara Marini, additional, Young, Sally Dunaway, additional, Day, John, additional, Duong, Tina, additional, Darras, Basil, additional, Pasternak, Amy, additional, Montes, Jacqueline, additional, Rodriguez-Torres, Ralph, additional, Chiriboga, Claudia A., additional, Hirano, Michio, additional, Civitello, Matthew, additional, Cunningham, Zarazuela Zolkipli, additional, Brandsema, John, additional, Mayer, Hank, additional, Glanzmann, Allan, additional, Karagiannis, Joannis, additional, Baldinetti, Francesca, additional, Khader, Leila, additional, Costa, Patrizia, additional, Lovato, Valeria, additional, and Rastelletti, Irene, additional

Published
2024
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20. Delphi Consensus Panel on Assessing Clinically Meaningful Treatment Outcomes in Adults Living with Spinal Muscular Atrophy (SMA) (P2-11.007)

Author

Sully, Kate, primary, Chiriboga, Claudia, additional, Duong, Tina, additional, Erbas, Yasemin, additional, Glascock, Jacqueline, additional, Gusset, Nicole, additional, Muni-Lofra, Robert, additional, O’Connell, Colleen, additional, Vázquez-Costa, Juan F., additional, Walter, Maggie C., additional, Guittari, Carol Jean, additional, Cochrane, James, additional, Townson, Louisa D., additional, Kufakwaro, Jason, additional, Marciniak, Anne, additional, Riley, Danielle, additional, and Nam, Julian, additional

Published
2024
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21. Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Author

Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney W.J., Benmhammed, Noor, Médard, Laurie, Servais, Laurent, Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney W.J., Benmhammed, Noor, Médard, Laurie, and Servais, Laurent

Abstract

Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I–III patients with a median age of 11.2 (0.39–57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e. those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients’ caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients’ and patients’ caregivers’ experience of the effect of nusinersen treatment in SMA., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2024

22. Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.

Author

Crawford, Thomas O., Day, John W., De Vivo, Darryl C., Krueger, Jena M., Mercuri, Eugenio, Nascimento, Andres, Pasternak, Amy, Mazzone, Elena Stacy, Duong, Tina, Guochen Song, Marantz, Jing L., Baver, Scott, Dongzi Yu, Lan Liu, and Darras, Basil T.

Subjects
SPINAL muscular atrophy, COMPUTER adaptive testing, RESPIRATORY infections, COVID-19, FATIGUE (Physiology)
Abstract

Background and purpose: At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. This manuscript reports the extended efficacy and safety in the nonambulatory group of the TOPAZ study at 36 months. Methods: Patients who completed the primary study (NCT03921528) could enroll in an open-label extension, during which patients received apitegromab 20 mg/kg by intravenous infusion every 4 weeks. Patients were assessed periodically via the Hammersmith Functional Motor Scale-Expanded (HFMSE), Revised Upper Limb Module (RULM), World Health Organization (WHO) motor development milestones, Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) Daily Activities and Mobility domains, and Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue questionnaire. Results: Of the 58 patients enrolled in TOPAZ, 35 were nonambulatory (mean age 7.3 years). The mean change at 36 months in HFMSE score from baseline was +4.0 (standard deviation [SD]: 7.54), and + 2.4 (3.24) for RULM score (excluding n = 7 after scoliosis surgery). Caregiver-reported outcomes (PEDI-CAT and PROMIS Fatigue) showed improvements from baseline over 36 months. In addition, most patients (28/32) improved or maintained WHO motor milestones achieved at baseline. The most frequently reported treatment-emergent adverse events were pyrexia (48.6%), nasopharyngitis (45.7%), COVID-19 infection (40.0%), vomiting (40.0%), and upper respiratory tract infection (31.4%). Conclusion: The benefit of apitegromab treatment observed at 12 months was sustained at 36 months with no new safety findings. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Author

Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, and Sframeli, Maria

Subjects
SPINAL muscular atrophy, NEUROMUSCULAR diseases, RECEIVER operating characteristic curves, MEASUREMENT errors
Abstract

Background and purpose: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. Methods: The study employed two distinct methods. MDC was calculated using distribution‐based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function. MCID was assessed using anchor‐based methods (receiver operating characteristic [ROC] curve analysis and standard error) on 76 patients (52 SMA II and 24 SMA III) for whom the 12‐month HFMSE could be anchored to a caregiver‐reported clinical perception questionnaire. Results: With both approaches, SMA type II and type III patients had different profiles. The MCID, using ROC analysis, identified optimal cutoff points of −2 for type II and −4 for type III patients, whereas using the standard error we found the optimal cutoff points to be 1.5 for improvement and −3.2 for deterioration. Furthermore, distribution‐based methods uncovered varying values across age and functional status subgroups within each SMA type. Conclusions: These results emphasize that the interpretation of a single MCID or MDC value obtained in large cohorts with different functional status needs to be made with caution, especially when these may be used to assess possible responses to new therapies. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With Spinal Muscular Atrophy

Author

Capogrosso, Marco, primary, Prat-Ortega, Genis, additional, Ensel, Scott, additional, Donadio, Serena, additional, Borda, Luigi, additional, Boos, Amy, additional, Yadav, Prakarsh, additional, Verma, Nikhil, additional, Ho, Jonathan, additional, Frazier-Kim, Sarah, additional, Fields, Daryl, additional, Fisher, Lee, additional, Weber, Douglas, additional, Duong, Tina, additional, Weinstein, Steve, additional, Eliasson, Mikael, additional, Montes, Jacqueline, additional, Chen, Karen, additional, Clemens, Paula, additional, Gerzsten, Peter, additional, Mentis, George, additional, Pirondini, Elvira, additional, and Friedlander, Robert, additional

Published
2024
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25. Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

Author

Duong, Tina, Braid, Jessica, Staunton, Hannah, Barriere, Aurelie, Petridis, Fani, Reithinger, Johannes, Cruz, Rosangel, Jarecki, Jill, De Lemus, Mencia, Gusset, Nicole, Broekgaarden, Ria, Randhawa, Sharan, Flynn, Jessica, Arbuckle, Rob, Reif, Sonia, Yang, Lida, De Martini, Angela, and Vuillerot, Carole

Published
2021
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26. Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

Author

Duong, Tina, Braid, Jessica, Staunton, Hannah, Barriere, Aurelie, Petridis, Fani, Reithinger, Johannes, Cruz, Rosangel, Jarecki, Jill, De Lemus, Mencia, Gusset, Nicole, Broekgaarden, Ria, Randhawa, Sharan, Flynn, Jessica, Arbuckle, Rob, Reif, Sonia, Yang, Lida, De Martini, Angela, and Vuillerot, Carole

Published
2021
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27. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Author

Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O'Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, and Mazzone, Elena

Published
2024
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28. Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)

Author

Tang, Whitney J., primary, Gu, Bo, additional, Montalvo, Samuel, additional, Dunaway Young, Sally, additional, Parker, Dana M., additional, de Monts, Constance, additional, Ataide, Paxton, additional, Ni Ghiollagain, Noirin, additional, Wheeler, Matthew T., additional, Tesi Rocha, Carolina, additional, Christle, Jeffrey W., additional, He, Zihuai, additional, Day, John W., additional, and Duong, Tina, additional

Published
2023
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29. Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy

Author

Beaudin, Marie, primary, Kamali, Tahereh, additional, Tang, Whitney, additional, Hagerman, Katharine A., additional, Dunaway Young, Sally, additional, Ghiglieri, Lisa, additional, Parker, Dana M., additional, Lehallier, Benoit, additional, Tesi-Rocha, Carolina, additional, Sampson, Jacinda B., additional, Duong, Tina, additional, and Day, John W., additional

Published
2023
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30. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author

Young, Sally Dunaway, Mcgrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, and Lofra, Robert Muni

Subjects
SPINAL MUSCULAR ATROPHY, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Neurology, Neurology (clinical)
Abstract

Background: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response. Objective: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects. Methods: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus. Results: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability. Conclusions: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.

Published
2023
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31. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author

Dunaway Young, Sally, primary, McGrattan, Katlyn, additional, Johnson, Emily, additional, van der Heul, Marise, additional, Duong, Tina, additional, Bakke, Merete, additional, Werlauff, Ulla, additional, Pasternak, Amy, additional, Cattaneo, Camilla, additional, Hoffman, Katie, additional, Fanelli, Lavinia, additional, Breaks, Anne, additional, Allison, Kristen, additional, Baranello, Giovanni, additional, Finkel, Richard, additional, Coratti, Giorgia, additional, and Lofra, Robert Muni, additional

Published
2023
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33. JEWELFISH: 24-month Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Treatment-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P7-9.004)

Author

Chiriboga, Claudia, primary, Bruno, Claudio, additional, Duong, Tina, additional, Fischer, Dirk, additional, Kirschner, Janbernd, additional, Scoto, Mariacristina, additional, Mercuri, Eugenio, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Carruthers, Imogen, additional, Martin, Carmen, additional, Gidaro, Teresa, additional, and Muntoni, Francesco, additional

Published
2023
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34. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale-Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8-13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items.

Published
2023

35. Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

Author

Dunaway Young, Sally, primary, Pasternak, Amy, additional, Duong, Tina, additional, McGrattan, Katlyn E., additional, Stranberg, Sarah, additional, Maczek, Elizabeth, additional, Dias, Courtney, additional, Tang, Whitney, additional, Parker, Dana, additional, Levine, Alexis, additional, Rohan, Alyssa, additional, Wolford, Connie, additional, Martens, William, additional, McDermott, Michael P., additional, Darras, Basil T., additional, and Day, John W., additional

Published
2023
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37. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, primary, Ramsey, Danielle, additional, Wolfe, Amy, additional, Mayhew, Anna, additional, Scoto, Mariacristina, additional, Baranello, Giovanni, additional, Muni Lofra, Robert, additional, Main, Marion, additional, Milev, Evelin, additional, Coratti, Giorgia, additional, Pane, Marika, additional, Sansone, Valeria, additional, D’Amico, Adele, additional, Bertini, Enrico, additional, Messina, Sonia, additional, Bruno, Claudio, additional, Albamonte, Emilio, additional, Mazzone, Elena Stacy, additional, Montes, Jacqueline, additional, Glanzman, Allan M., additional, Zolkipli-Cunningham, Zarazuela, additional, Pasternak, Amy, additional, Duong, Tina, additional, Dunaway Young, Sally, additional, Civitello, Matthew, additional, Marini-Bettolo, Chiara, additional, Day, John W., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, Finkel, Richard S., additional, Mercuri, Eugenio, additional, and Muntoni, Francesco, additional

Published
2023
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38. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Köhler, Wolfgang, primary, Engelen, Marc, additional, Eichler, Florian, additional, Lachmann, Robin, additional, Fatemi, Ali, additional, Sampson, Jacinda, additional, Salsano, Ettore, additional, Gamez, Josep, additional, Molnar, Maria Judit, additional, Pascual, Sílvia, additional, Rovira, Maria, additional, Vilà, Anna, additional, Pina, Guillem, additional, Martín-Ugarte, Itziar, additional, Mantilla, Adriana, additional, Pizcueta, Pilar, additional, Rodríguez-Pascau, Laura, additional, Traver, Estefania, additional, Vilalta, Anna, additional, Pascual, María, additional, Martinell, Marc, additional, Meya, Uwe, additional, Mochel, Fanny, additional, Mc Govern, Eavan, additional, Yazbeck, Elise, additional, Barbier, Magali, additional, Luton, Marie-Pierre, additional, Pousset, Françoise, additional, Hogrel, Jean-Yves, additional, Adanyeguh, Isaac, additional, Then Bergh, Florian, additional, Bergner, Caroline, additional, Unterlauft, Astrid, additional, Roicke, Hannes, additional, Hoffmann, Karl-Titus, additional, Scherlach, Cordula, additional, Kalb, Andrea, additional, Meilick, Bianca, additional, Reuschel, Mandy, additional, Fenu, Silvia, additional, Mauro, Elena, additional, Murphy, Elaine, additional, Krishna, Gauri, additional, Beyene, Tiggy, additional, Sierra, Alba, additional, Quiñoa, Sara, additional, Belen Canovas, Anna, additional, Grosz, Zoltan, additional, Györgyi, Báthori, additional, van de Stadt, S.I., additional, Huffnagel, I.C., additional, van Ballegoij, W.J.C., additional, Voermans, M.M.C., additional, Seyedsadjadi, Reza, additional, Corre, Camille, additional, Godbole, Neha, additional, Grant, Natalie Rose, additional, Brito Pires, Claudia Maria, additional, Trovato, Melissa, additional, Yeh, Nancy, additional, Goodman, Jordan, additional, Keller, Jennifer, additional, Joseph, Chris, additional, Van Haren, Keith, additional, Sakamuri, Sarada, additional, Duong, Tina, additional, Perrone, Lila, additional, Tran, Stephanie, additional, Dunaway Young, Sally, additional, and Hashmi, Syed, additional

Published
2023
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39. CARDIOPULMONARY RESPONSE TO EXERCISE IN PATIENTS WITH NEUROMUSCULAR DISEASE

Author

Christle, Jeffrey W., primary, Duong, Tina, additional, de Monts, Constance, additional, Ni Ghiollagain, Noirin Maire, additional, Parker, Dana, additional, Stevens, Veronica, additional, Young, Sally Dunaway, additional, Kaufman, Beth D, additional, Tang, Whitney, additional, Sampson, Jacinda, additional, Myers, Jonathan, additional, Ashley, Euan A., additional, Day, John, additional, and Wheeler, Matthew T., additional

Published
2023
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40. 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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41. Table_2_Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.docx

Author

Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., and Straub, Volker

Abstract

Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R2 0.18). EK scores were strongly associated with PUL (Pseudo R2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.

Published
2022

42. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

Author

Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, MRC Centre Neuromuscular Biobank (UK), Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, MRC Centre Neuromuscular Biobank (UK), Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay, Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Vandevelde, Bruno, DeWolf, Brittney, Maron, Elke, Gordish, Heather, Hilsden, Heather, Guglieri, Michela, Hogrel, Jean-Yves, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., and Straub, Volker

Abstract

Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R 2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R 2 0.18). EK scores were strongly associated with PUL (Pseudo R 2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R 2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.

Published
2022

43. In Vitro Cytotoxicity of Antiresorptive and Antiangiogenic Compounds on Oral Tissues Contributing to MRONJ: Systematic Review.

Author

Guirguis, Robert H., Tan, Leonard P., Hicks, Rebecca M., Hasan, Aniqa, Duong, Tina D., Hu, Xia, Hng, Jordan Y. S., Hadi, Mohammad H., Owuama, Henry C., Matthyssen, Tamara, McCullough, Michael, Canfora, Federica, Paolini, Rita, and Celentano, Antonio

Subjects
NEOVASCULARIZATION inhibitors, SUNITINIB, BEVACIZUMAB, TISSUES, ANTINEOPLASTIC agents
Abstract

Background: Invasive dental treatment in patients exposed to antiresorptive and antiangiogenic drugs can cause medication-related osteonecrosis of the jaw (MRONJ). Currently, the exact pathogenesis of this disease is unclear. Methods: In March 2022, Medline (Ovid), Embase (Ovid), Scopus, and Web of Science were screened to identify eligible in vitro studies investigating the effects of antiresorptive and antiangiogenic compounds on orally derived cells. Results: Fifty-nine articles met the inclusion criteria. Bisphosphonates were used in 57 studies, denosumab in two, and sunitinib and bevacizumab in one. Zoledronate was the most commonly used nitrogen-containing bisphosphonate. The only non-nitrogen-containing bisphosphonate studied was clodronate. The most frequently tested tissues were gingival fibroblasts, oral keratinocytes, and alveolar osteoblasts. These drugs caused a decrease in cell proliferation, viability, and migration. Conclusions: Antiresorptive and antiangiogenic drugs displayed cytotoxic effects in a dose and time-dependent manner. Additional research is required to further elucidate the pathways of MRONJ. [ABSTRACT FROM AUTHOR]

Published
2023
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45. JEWELFISH: Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P15-5.004)

Author

Chiriboga, Claudia A., primary, Bruno, Claudio, additional, Duong, Tina, additional, Fischer, Dirk, additional, Kirschner, Janbernd, additional, Mercuri, Eugenio, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Carruthers, Imogen, additional, Martin, Carmen, additional, Warren, Francis, additional, and Scoto, Mariacristina, additional

Published
2022
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46. MANATEE: A Study of RO7204239 in Combination with Risdiplam Treatment in Pediatric Patients with SMA (P16-5.002)

Author

Duong, Tina, primary, Darras, Basil T., additional, Morrow, Jasper, additional, Muntoni, Francesco, additional, Servais, Laurent, additional, Carruthers, Imogen, additional, Gerber, Marianne, additional, Kletzl, Heidemarie, additional, Martin, Carmen, additional, Zhang, Beini B., additional, Scalco, Renata S., additional, and Mercuri, Eugenio, additional

Published
2022
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48. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

Fanelli, Lavinia, Coratti, Giorgia, Sansone, Valeria, Albamonte, Emilio, Trucco, Federica, Latini, Sofia, Bertini, Enrico, d'Amico, Adele, Doglio, Luca, Stimpson, Georgia, Baranello, Giovanni, Scoto, Mariacristina, Rohwer, Annemarie, Edel, Lisa, Lofra, Robert Muni, Bettolo, Chiara Marini, Young, Sally Dunaway, Day, John, Duong, Tina, Darras, Basil, Pasternak, Amy, Montes, Jacqueline, Rodriguez-Torres, Ralph, Chiriboga, Claudia A., Hirano, Michio, Civitello, Matthew, Cunningham, Zarazuela Zolkipli, Brandsema, John, Mayer, Hank, Glanzmann, Allan, Karagiannis, Joannis, Baldinetti, Francesca, Khader, Leila, Costa, Patrizia, Lovato, Valeria, Rastelletti, Irene, McGrattan, Katlyn, Cerchiari, Antonella, Conway, Eleanor, Berti, Beatrice, Finkel, Richard, Muntoni, Francesco, and Mercuri, Eugenio

Published
2024
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49. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

Author

Mayhew, Anna G., primary, James, Meredith K., additional, Moore, Ursula, additional, Sutherland, Helen, additional, Jacobs, Marni, additional, Feng, Jia, additional, Lowes, Linda Pax, additional, Alfano, Lindsay N., additional, Muni Lofra, Robert, additional, Rufibach, Laura E., additional, Rose, Kristy, additional, Duong, Tina, additional, Bello, Luca, additional, Pedrosa-Hernández, Irene, additional, Holsten, Scott, additional, Sakamoto, Chikako, additional, Canal, Aurélie, additional, Sánchez-Aguilera Práxedes, Nieves, additional, Thiele, Simone, additional, Siener, Catherine, additional, Vandevelde, Bruno, additional, DeWolf, Brittney, additional, Maron, Elke, additional, Gordish-Dressman, Heather, additional, Hilsden, Heather, additional, Guglieri, Michela, additional, Hogrel, Jean-Yves, additional, Blamire, Andrew M., additional, Carlier, Pierre G., additional, Spuler, Simone, additional, Day, John W., additional, Jones, Kristi J., additional, Bharucha-Goebel, Diana X., additional, Salort-Campana, Emmanuelle, additional, Pestronk, Alan, additional, Walter, Maggie C., additional, Paradas, Carmen, additional, Stojkovic, Tanya, additional, Mori-Yoshimura, Madoka, additional, Bravver, Elena, additional, Díaz-Manera, Jordi, additional, Pegoraro, Elena, additional, Mendell, Jerry R., additional, and Straub, Volker, additional

Published
2022
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50. A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data

Author

Duong, Tina, primary, Staunton, Hannah, additional, Braid, Jessica, additional, Barriere, Aurelie, additional, Trzaskoma, Ben, additional, Gao, Ling, additional, Willgoss, Tom, additional, Cruz, Rosangel, additional, Gusset, Nicole, additional, Gorni, Ksenija, additional, Randhawa, Sharan, additional, Yang, Lida, additional, and Vuillerot, Carole, additional

Published
2022
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