肌萎缩症相关文献与解析，生知库 | 链接生命科学的每一步

Finkel, Richard S; Crawford, Thomas O; Mercuri, Eugenio; Sumner, Charlotte J; Garcia Romero, Maria Del Mar; Day, John W; Montes, Jacqueline; Sun, Peng; Tichler, Ben; Paradis, Angela D; Boesch, Emily; Inra, Jennifer; Littauer, Ross; Sohn, Jihee; Monine, Michael; Gambino, Giulia; Foster, Richard; Farewell, Raechel; Fradette, Stephanie

神经科学

肌萎缩症

发表日期：2026

文献求助收藏

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

期刊:Nature Medicine

影响因子:50

doi:10.1038/s41591-025-04119-2

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

期刊:Nature Medicine

影响因子:50

doi:10.1038/s41591-026-04233-9

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial

鞘内注射onasemnogene abeparvovec治疗初治脊髓性肌萎缩症患者：一项3期随机对照试验

期刊:Nature Medicine

影响因子:50

doi:10.1038/s41591-025-04103-w

Proud, Crystal M; Vũ, Dũng Chí; Wilmshurst, Jo M; Sanmaneechai, Oranee; Gulati, Sheffali; Xiong, Hui; Moreno, Hugo C; Tay, Stacey Kiat Hong; Thong, Meow-Keong; Born, Alfred Peter; Banzzatto Ortega, Adriana; Jong, Yuh-Jyh; Al-Muhaizea, Mohammad A; Lee, Anna W; Visootsak, Jeannie; Tauscher-Wisniewski, Sitra; Alecu, Iulian; Parlikar, Rutvick; Finkel, Richard S

Out-of-Pocket Cost of Spinal Muscular Atrophy Gene Therapies Among Commercially Insured Patients

商业保险患者自付脊髓性肌萎缩症基因治疗费用

期刊:Jama Pediatrics

影响因子:18

doi:10.1001/jamapediatrics.2026.0641

Sckaff, Maria; Odouard, Ilina C; Ballreich, Jeromie; Anderson, Gerard; Socal, Mariana P

Restoring early postnatal synaptic dysregulation rescues motor neuron degeneration in a mouse model of Spinal and Bulbar Muscular Atrophy.

恢复早期出生后突触功能障碍可以挽救脊髓延髓肌萎缩症小鼠模型中的运动神经元退化。

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-026-70244-2

Hirunagi Tomoki, Sahashi Kentaro, Iida Madoka, Onodera Kazunari, Yokoi Satoshi, Ogura Yosuke, Tohnai Genki, Sakakibara Kenji, Maeda Kentaro, Bennett C Frank, Okada Yohei, Katsuno Masahisa

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

脊髓性肌萎缩症治疗进展：来自SMArtCARE注册研究的启示

期刊:Brain

影响因子:11.7

doi:10.1093/brain/awaf472

Voigt-Müller, Cornelia; Pfaffenlehner, Michelle; Bernert, Günther; Cetin, Hakan; Hagenacker, Tim; Kölbel, Heike; Lochmüller, Hanns; Pfeuffer, Christian; Vill, Katharina; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK

英国脊髓性肌萎缩症髋关节脱位管理：疾病修饰疗法时代英国德尔菲共识研究

期刊:EClinicalMedicine

影响因子:10

doi:10.1016/j.eclinm.2018.08.001

Clifton, Soazig; Mercer, Catherine H; Sonnenberg, Pam; Tanton, Clare; Field, Nigel; Gravningen, Kirsten; Hughes, Gwenda; Mapp, Fiona; Johnson, Anne M; Vanegas, Maria I; Baranello, Giovanni; Norman-Taylor, Fabian; Kokkinakis, Michail

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK

英国脊髓性肌萎缩症髋关节脱位管理：疾病修饰疗法时代英国德尔菲共识研究

期刊:EClinicalMedicine

影响因子:10

doi:10.1016/j.eclinm.2026.103872

Vanegas, Maria I; Baranello, Giovanni; Norman-Taylor, Fabian; Kokkinakis, Michail

Safety and efficacy of intravenous onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy type 1: interim analysis from LT-001, a long-term follow-up study of patients from the START study

静脉注射onasemnogene abeparvovec基因疗法治疗1型脊髓性肌萎缩症患者的安全性和有效性：LT-001中期分析，一项对START研究患者进行的长期随访研究

期刊:EClinicalMedicine

影响因子:10

doi:10.1016/j.eclinm.2026.103867

Waldrop, Megan A; Escudero, Roberto Bernardo; Yang, Lina; Camarata, Rebekah A; Branic, Emily C; Mehl, Lesa; Ilić, Andreja; Connolly, Anne M

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial

高剂量诺西那生治疗脊髓性肌萎缩症：一项3期随机试验

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

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

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial

鞘内注射onasemnogene abeparvovec治疗初治脊髓性肌萎缩症患者：一项3期随机对照试验

Out-of-Pocket Cost of Spinal Muscular Atrophy Gene Therapies Among Commercially Insured Patients

商业保险患者自付脊髓性肌萎缩症基因治疗费用

Restoring early postnatal synaptic dysregulation rescues motor neuron degeneration in a mouse model of Spinal and Bulbar Muscular Atrophy.

恢复早期出生后突触功能障碍可以挽救脊髓延髓肌萎缩症小鼠模型中的运动神经元退化。

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

脊髓性肌萎缩症治疗进展：来自SMArtCARE注册研究的启示

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK

英国脊髓性肌萎缩症髋关节脱位管理：疾病修饰疗法时代英国德尔菲共识研究

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK

英国脊髓性肌萎缩症髋关节脱位管理：疾病修饰疗法时代英国德尔菲共识研究

Safety and efficacy of intravenous onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy type 1: interim analysis from LT-001, a long-term follow-up study of patients from the START study

静脉注射onasemnogene abeparvovec基因疗法治疗1型脊髓性肌萎缩症患者的安全性和有效性：LT-001中期分析，一项对START研究患者进行的长期随访研究