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1. 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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2. 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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3. Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy

Author

Leow, Damien Meng-Kiat, Ng, Yang Kai, Wang, Loo Chien, Koh, Hiromi W.L., Zhao, Tianyun, Khong, Zi Jian, Tabaglio, Tommaso, Narayanan, Gunaseelan, Giadone, Richard M., Sobota, Radoslaw M., Ng, Shi-Yan, Teo, Adrian Kee Keong, Parson, Simon H., Rubin, Lee L., Ong, Wei-Yi, Darras, Basil T., and Yeo, Crystal J.J.

Subjects
Liver cells -- Health aspects -- Physiological aspects, Medical research, Medicine, Experimental, Fatty liver -- Risk factors -- Development and progression, Metabolic diseases -- Development and progression -- Risk factors, Spinal muscular atrophy -- Complications and side effects, Phenotype -- Research, Health care industry
Abstract

Spinal muscular atrophy (SMA) is typically characterized as a motor neuron disease, but extraneuronal phenotypes are present in almost every organ in severely affected patients and animal models. Extraneuronal phenotypes were previously underappreciated, as patients with severe SMA phenotypes usually died in infancy; however, with current treatments for motor neurons increasing patient lifespan, impaired function of peripheral organs may develop into significant future comorbidities and lead to new treatment-modified phenotypes. Fatty liver is seen in SMA animal models, but generalizability to patients and whether this is due to hepatocyte-intrinsic survival motor neuron (SMN) protein deficiency and/or subsequent to skeletal muscle denervation is unknown. If liver pathology in SMA is SMN dependent and hepatocyte intrinsic, this suggests SMN-repleting therapies must target extraneuronal tissues and motor neurons for optimal patient outcome. Here, we showed that fatty liver is present in SMA patients and that SMA patient- specific induced pluripotent stem cell-derived hepatocyte-like cells were susceptible to steatosis. Using proteomics, functional studies, and CRISPR/Cas9 gene editing, we confirmed that fatty liver in SMA is a primary SMN-dependent hepatocyte- intrinsic liver defect associated with mitochondrial and other hepatic metabolism implications. These pathologies require monitoring and indicate the need for systematic clinical surveillance and additional and/or combinatorial therapies to ensure continued SMA patient health., Introduction Spinal muscular atrophy (SMA) is one of the most common monogenetic autosomal recessive neuromuscular genetic diseases, with a worldwide carrier frequency of approximately 1 in 52 and disease incidence [...]

Published
2024
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6. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Author

Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., and Natera-de Benito, Daniel

Published
2023
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9. 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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10. 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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13. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

Author

Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Jr., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun, Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, and Griggs, Robert C.

Published
2021
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14. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

Author

Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2021
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15. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Author

Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, and Mendell, Jerry R

Published
2021
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17. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Author

Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, and Day, John W.

Published
2021
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18. 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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19. Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.

Author

Iff, Joel, Done, Nicolae, Tuttle, Edward, Zhong, Yi, Wei, Fangzhou, Darras, Basil T., McDonald, Craig M., Mercuri, Eugenio, and Muntoni, Francesco

Abstract

Introduction/Aims: Eteplirsen, approved in the US for patients with Duchenne muscular dystrophy (DMD) with exon 51 skip‐amenable variants, is associated with attenuated ambulatory/pulmonary decline versus DMD natural history (NH). We report overall survival in a US cohort receiving eteplirsen and contextualize these outcomes versus DMD NH. Methods: US patients with DMD receiving eteplirsen were followed through a patient support program, with data collected on ages at eteplirsen initiation and death/end of follow‐up. Individual DMD NH data were extracted by digitizing Kaplan–Meier (KM) curves from published systematic and targeted literature reviews. Overall survival age was analyzed using KM curves and contextualized with DMD NH survival curves; subanalyses considered age groups and duration of eteplirsen exposure. Overall survival time from treatment initiation was also evaluated. Results: A total of 579 eteplirsen‐treated patients were included. During a total follow‐up of 2119 person‐years, median survival age was 32.8 years. DMD NH survival curves extracted from four publications (follow‐up for 1224 DMD NH controls) showed overall pooled median survival age of 27.4 years. Eteplirsen‐treated patients had significantly longer survival from treatment initiation versus age‐matched controls (age‐adjusted hazard ratio [HR], 0.65; 95% confidence interval [CI], 0.44–0.98; p <.05). Longer treatment exposure was associated with improved survival (HR, 0.15; 95% CI, 0.05–0.41; p <.001). Comparisons using different DMD NH cohorts to address common risks of bias yielded consistent findings. Discussion: Data suggest eteplirsen may prolong survival in patients with DMD across a wide age range. As more data become available, the impact of eteplirsen on survival will be further elucidated. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.

Author

Harding, Elizabeth R., Kanner, Cara H., Pasternak, Amy, Glanzman, Allan M., Dunaway Young, Sally, Rao, Ashwini K., McDermott, Michael P., Zolkipli-Cunningham, Zarazuela, Day, John W., Finkel, Richard S., Darras, Basil T., De Vivo, Darryl C., and Montes, Jacqueline

Subjects
SPINAL muscular atrophy, JOINT hypermobility, NATURAL history, MUSCLE weakness, RANGE of motion of joints, NEUROREHABILITATION
Abstract

Background: The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hypermobility (JH) is observed but is poorly described, and its relationship with function is unknown. Methods: Lower-limb ROM (range of motion) assessments of extension and flexion at the hip, knee, and ankle were performed. ROMs exceeding the published norms were included in the analysis. The functional assessments performed included the six-minute walk test (6 MWT) and the Hammersmith Functional Motor Scale—Expanded (HFMSE). Results: Of the 143 participants, 86% (n = 123) had at least one ROM measure that was hypermobile, and 22% (n = 32) had three or more. The HFMSE scores were inversely correlated with hip extension JH (r = −0.60, p = 0.21; n = 6) and positively correlated with knee flexion JH (r = 0.24, p = 0.02, n = 89). There was a moderate, inverse relationship between the 6 MWT distance and ankle plantar flexion JH (r = −0.73, p = 0.002; n = 15). Conclusions: JH was identified in nearly all participants in at least one joint in this study. Hip extension, knee flexion and ankle plantar flexion JH was associated with function. A further understanding of the trajectory of lower-limb joint ROM is needed to improve future rehabilitation strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Author

Duong, Tina, Wolford, Connie, McDermott, Michael P., Macpherson, Chelsea E., Pasternak, Amy, Glanzman, Allan M., Martens, William B., Kichula, Elizabeth, Darras, Basil T., De Vivo, Darryl C., Zolkipli-Cunningham, Zarazuela, Finkel, Richard S., Zeineh, Michael, Wintermark, Max, Sampson, Jacinda, Hagerman, Katharine A., Young, Sally Dunaway, and Day, John W.

Published
2021
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26. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Author

Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, and Kissel, John T.

Published
2018
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28. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

Author

Trucco, Federica, Ridout, Deborah, Scoto, Mariacristina, Coratti, Giorgia, Main, Marion L., Muni Lofra, Robert, Mayhew, Anna G., Montes, Jacqueline, Pane, Marika, Sansone, Valeria, Albamonte, Emilio, DʼAmico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Parasuraman, Deepak, Childs, Anne-Marie, Gowda, Vasantha, Willis, Tracey, Ong, Min, Marini-Bettolo, Chiara, De Vivo, Darryl C., Darras, Basil T., Day, John, Kichula, Elizabeth A., Mayer, Oscar H., Navas Nazario, Aledie A., Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco, De Sanctis, Roberto, Pirola, Alice, Longo, Antonella, Sframeli, Maria, Pedemonte, Marina, Pallant, Lindsey, Wraige, Elizabeth, Turner, Sarah, White, Kay, Glanzman, Allan M., Civitello, Matthew, Berardinelli, Angela, Baranello, Giovanni, Spinty, Stefan, Majumbdar, Anirban, Huges, Imelda, Krishnakumar, Deepa, Chow, Gabriel, Thomas, Neil, and Ramdas, Sithara

Published
2021
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29. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe, McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, and Mercuri, Eugenio

Published
2017
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33. Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Author

Armengol, Victor D., Darras, Basil T., Abulaban, Ahmad A., Alshehri, Ali, Barisic, Nina, Ben-Omran, Tawfeg, Bernert, Guenther, Castiglioni, Claudia, Yin-Hsiu Chien, Farrar, Michelle A., Kandawasvika, Gwendoline, Khadilkar, Satish, Mah, Jean, Marini-Bettolo, Chiara, Osredkar, Damjan, Pfeffer, Gerald, Piazzon, Flavia B., Castellano, Inmaculada Pitarch, Quijano-Roy, Susana, and Kayoko Saito

Published
2024
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37. X-linked myotubular myopathy: A prospective international natural history study

Author

Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, DʼAmico, Adele, Dowling, James J., Darras, Basil T., Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves., Landy, Hal, and Servais, Laurent

Published
2019
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39. Developmental milestones in type I spinal muscular atrophy

Author

De Sanctis, Roberto, Coratti, Giorgia, Pasternak, Amy, Montes, Jacqueline, Pane, Marika, Mazzone, Elena S., Young, Sally Dunaway, Salazar, Rachel, Quigley, Janet, Pera, Maria C., Antonaci, Laura, Lapenta, Leonardo, Glanzman, Allan M., Tiziano, Danilo, Muntoni, Francesco, Darras, Basil T., De Vivo, Darryl C., Finkel, Richard, and Mercuri, Eugenio

Published
2016
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41. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Author

Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S., Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T., Bertini, Enrico, Muntoni, Francesco, and De Vivo, Darryl C.

Published
2016
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47. List of Contributors

Author

Abbink, Truus E.M., Abdallah, Sarah B., Agin-Liebes, Julian, Bachoo, Robert M., Baek, Peter, Baranzini, Sergio E., Bear, Lauren, Biglan, Kevin, Bloch, Michael H., Bonnet, Wilmot, Brady, Melanie, Brandsema, John F., Broccolini, Aldobrando, Brown, Robert H., Cohen, Bernard, Cole, Jordan J., Comi, Anne M., Crabbe, John C., Darras, Basil T., Delia, Domenico, Doran, Sarah, Dowling, Michael M., Dunn, Walter, Elsheikh, Bakri, Engel, Andrew G., Fahn, Stanley, Fasching, Liana, Fears, Scott C., Felling, Ryan J., Fernandez, Thomas V., Ferner, Rosalie E., Fink, John K., Gellera, Cinzia, Gillespie, Charles F., Goldman, Alica M., Gospe, Sidney M., Jr., Gu, Yian, Gutmann, David H., Hadziamehtovic, Una, Hauser, Stephen L., Hilbert, James E., Hosoi, Yasushi, Ibrahim, Ahmed N., Iliopoulos, Othon, Islam, Monica P., Jenkins, Aaron K., Jia, Xiaoming, Jungbluth, Heinz, Kane, John P., Katz, Natalie K., Kayani, Saima N., Kirkham, Fenella J., Kirkorian, A. Yasmine, Kissel, John T., Klein, Christine, Kleopa, Kleopas A., Kolb, Stephen J., Konstantakou, Evmorfia, Kruer, Michael C., Lambracht-Washington, Doris, Larson, Austin, Lee, Joseph H., Lewis, David A., Liang, Wen-Chen, Lin, Ziqiang, Lohmann, Katja, Lombroso, Paul, Lucchini, Matteo, Maher, Elizabeth A., Malloy, Mary J., Manoli, Irini, Marin-Valencia, Isaac, Marshall, Fred, Mayeux, Richard, McGarry, Andrew, Menkes, John H., Meola, Giovanni, Miller, Bruce L., Mirabella, Massimiliano, Miyajima, Hiroaki, Mizutani, Shuki, Mole, Sara E., Moxley, Richard T., III, Nemeroff, Charles B., Nemeth, Christina, Nishino, Ichizo, Noebels, Jeffrey L., Nordlie, Sandra M.H., Oksenberg, Jorge R., Oldfors, Anders, Olfson, Emily, Padilla-Lopez, Sergio, Pandolfo, Massimo, Pascual, Juan M., Patel, Shailendra B., Pena, Izabella A., Ptáček, Louis, Ralph, Jeffrey, Reilly, Mary M., Renthal, William, Reus, Victor I., Roach, E. Steve, Rosenberg, Roger N., Rosenblatt, David S., Rossor, Alexander M., Salen, Gerald, Savarese, Antonia M., Sawyer, Russell P., Scherer, Steven S., Schneider, Susanne A., Schulz, Angela, Selcen, Duygu, Shakkottai, Vikram G., Solomon, Chase, Sreedharan, Jemeen, Statland, Jeffrey M., Taroni, Franco, Tuschl, Karin, Udd, Bjarne, Umaña, Luis Alfredo, Vaccarino, Flora M., van der Knaap, Marjo S., van Karnebeek, Clara, Venditti, Charles P., Voermans, Nicol C., Volk, David W., Waldrop, Megan A., Watkins, David, Wilson, Golder N., Wilson, Kathleen S., Xia, Weiming, and Yu, Gang

Published
2025
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49. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

Author

Salazar, Rachel, Montes, Jacqueline, Dunaway Young, Sally, McDermott, Michael P., Martens, William, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Glanzman, Allan M., Civitello, Matt, Gee, Richard, Duong, Tina, Mazzone, Elena S., Main, Marion, Mayhew, Anna, Ramsey, Danielle, Muni Lofra, Robert, Coratti, Giorgia, Fanelli, Lavinia, De Sanctis, Roberto, Forcina, Nicola, Chiriboga, Claudia, Darras, Basil T., Tennekoon, Gihan I., Scoto, Mariacristina, Day, John W., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, and De Vivo, Darryl C.

Published
2018
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