日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial

鞘内注射onasemnogene abeparvovec治疗既往接受过治疗的脊髓性肌萎缩症患者:一项3b期开放标签试验

Kwon, Jennifer M; Munell, Francina; Le Goff, Laure; Yuge, Kotaro; Kato, Tamaki; Cances, Claude; De Waele, Liesbeth; Woodcock, Ian R; Mercuri, Eugenio M; Proud, Crystal M; Darras, Basil T; Hayes, Leslie H; Oskoui, Maryam; Visootsak, Jeannie; Williams, Gemma; Ilić, Andreja; Yang, Lina; van der Pol, W Ludo

Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial

作者更正:鞘内注射onasemnogene abeparvovec治疗既往接受过治疗的脊髓性肌萎缩症患者:一项3b期开放标签试验

Kwon, Jennifer M; Munell, Francina; Le Goff, Laure; Yuge, Kotaro; Kato, Tamaki; Cances, Claude; De Waele, Liesbeth; Woodcock, Ian R; Mercuri, Eugenio M; Proud, Crystal M; Darras, Basil T; Hayes, Leslie H; Oskoui, Maryam; Visootsak, Jeannie; Williams, Gemma; Ilić, Andreja; Yang, Lina; van der Pol, W Ludo

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy

脊髓性肌萎缩症携带者诱导肝细胞的肝脂肪变性

Sun, Lingyu; Leow, Damien Meng Kiat; Wang, Loo Chien; Eio, Michelle Yating; Koh, Hiromi W L; Khong, Zi Jian; Narayanan, Gunaseelan; Teo, Aloysius Kai Soon; Giadone, Richard; Sobota, Radoslaw M; Ng, Shi Yan; Teo, Adrian Kee Keong; Ong, Wei Yi; Rubin, Lee L; Darras, Basil T; Yeo, Crystal J J

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts

脊髓性肌萎缩症功能综合评分修订版(SMA-FCR)在未治疗和接受Nusinersen治疗的患者队列中的比较

Pasternak, Amy; McDermott, Michael P; Montes, Jacqueline; Glanzman, Allan M; Coratti, Giorgia; Dunaway Young, Sally; Duong, Trinh Tina; Martens, William B; Day, John W; Zolkipli-Cunningham, Zarazuela; Sansone, Valeria Ada; D'Amico, Adele; Messina, Sonia; Bruno, Claudio; Mercuri, Eugenio; De Vivo, Darryl C; Darras, Basil T

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study

静脉注射奥那西姆诺基因阿贝帕沃韦治疗脊髓性肌萎缩症患儿的安全性和有效性:3b期SMART研究

McMillan, Hugh J; Baranello, Giovanni; Farrar, Michelle A; Zaidman, Craig M; Moreno, Teresa; De Waele, Liesbeth; Jong, Yuh-Jyh; Laugel, Vincent; Quijano-Roy, Susana; Mercuri, Eugenio; Chien, Yin-Hsiu; Straub, Volker; Darras, Basil T; Seibert, Julia; Bernardo Escudero, Roberto; Alecu, Iulian; Freischläger, Frank; Muntoni, Francesco

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen

对接受诺西那生治疗的SMA II型和III型患者进行4年HFMSE评分变化的纵向评估

Coratti, Giorgia; Bovis, Francesca; Pane, Marika; Pasternak, Amy; Albamonte, Emilio; Mizzoni, Irene; Glanzman, Allan M; Morando, Simone; Montes, Jacqueline; Cavallina, Ilaria; Dunaway Young, Sally; Duong, Tina; Rolle, Enrica; Civitello, Matthew; De Sanctis, Roberto; Bravetti, Chiara; Ricci, Federica; Gadaleta, Giulio; Mongini, Tiziana; Sframeli, Maria; Pera, Maria Carmela; Messina, Sonia; D'Amico, Adele; Catteruccia, Michela; Brolatti, Noemi; Hirano, Michio; Zolkipli-Cunningham, Zarazuela; Darras, Basil T; Bertini, Enrico; Bruno, Claudio; Day, John; Sansone, Valeria A; Finkel, Richard S; Mercuri, Eugenio

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

对275例线粒体肌病患者的临床、分子和组织病理学特征进行回顾性队列分析

Hildebrandt, Clara; Genetti, Casie A; Logvinenko, Tanya; Win, Wathone; Barraza-Flores, Pamela; Hayes, Leslie H; Rockowitz, Shira; Lehtokari, Vilma-Lotta; Iannaccone, Susan T; Darras, Basil T; Topaloglu, Haluk; Wallgren-Pettersson, Carina; Beggs, Alan H

Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration

接受疾病改善治疗的婴儿在症状前和症状后给药方面,吞咽疗效存在差异

McGrattan, Katlyn Elizabeth; Mohr, Alicia Hofelich; Miles, Anna; Allen, Jacqui; Ochura, Juliet; Hernandez, Kayla; Walsh, Katie; Rao, Vamshi; Stevens, Melanie; McGhee, Heather; Nichols, Keeley; Turksi, Morgan Elaine; Spoden, Abigail; Wilson, Irena; Coker, Mackenzi; Leon-Astudillo, Carmen; Smith, Leann Schow; Brandsema, John; Farah, Hiba; Welc, Julia; Levy, Deborah; Clements, Miranda; Duong, Tina; Young, Sally Dunaway; Schenck, Graham; Richardson, Randal; Karachunski, Peter; Brown, Ashley; Brown, Allison; Castro, Diana; Darras, Basil T; Graham, Robert J

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations

脊髓性肌萎缩症最佳实践更新:治疗注意事项建议

Schroth, Mary K; Deans, Jennifer; Bharucha Goebel, Diana X; Burnette, W Bryan; Darras, Basil T; Elsheikh, Bakri H; Felker, Marcia V; Klein, Andrea; Krueger, Jena; Proud, Crystal M; Veerapandiyan, Aravindhan; Graham, Robert J