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

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

吉维诺司他治疗杜氏肌营养不良症的长期疗效评价及自然病程比较

McDonald, Craig M; Guglieri, Michela; Vučinić, Dragana; Acsadi, Gyula; Brandsema, John F; Bruno, Claudio; Finanger, Erika L; Harper, Amy; Lobato, Mercedes Lopez; Masson, Riccardo; Muelas, Nuria; Munell, Francina; Nevo, Yoram; Péréon, Yann; Phan, Han; Sansone, Valeria A; Scoto, Mariacristina; Willis, Tracey; Finkel, Richard S; Vandenborne, Krista; Cazzaniga, Sara; Montrasio, Silvia; Alessi, Federica; Bettica, Paolo; Mercuri, Eugenio

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial

Vamorolone治疗杜氏肌营养不良症男孩48周的疗效和安全性:一项随机对照试验

Dang, Utkarsh J; Damsker, Jesse M; Guglieri, Michela; Clemens, Paula R; Perlman, Seth J; Smith, Edward C; Horrocks, Iain; Finkel, Richard S; Mah, Jean K; Deconinck, Nicolas; Goemans, Nathalie M; Haberlová, Jana; Straub, Volker; Mengle-Gaw, Laurel; Schwartz, Benjamin D; Harper, Amy; Shieh, Perry B; De Waele, Liesbeth; Castro, Diana; Yang, Michele L; Ryan, Monique M; McDonald, Craig M; Tulinius, Mar; Webster, Richard I; Mcmillan, Hugh J; Kuntz, Nancy; Rao, Vamshi K; Baranello, Giovanni; Spinty, Stefan; Childs, Anne-Marie; Sbrocchi, Annie M; Selby, Kathryn A; Monduy, Migvis; Nevo, Yoram; Vilchez, Juan J; Nascimento-Osorio, Andres; Niks, Erik H; De Groot, Imelda J M; Katsalouli, Marina; Van Den Anker, John N; Ward, Leanne M; Leinonen, Mika; D'Alessandro, Andrea L; Hoffman, Eric P

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

Vamorolone 与安慰剂和泼尼松治疗杜氏肌营养不良症男孩的疗效和安全性:一项随机临床试验

Guglieri, Michela; Clemens, Paula R; Perlman, Seth J; Smith, Edward C; Horrocks, Iain; Finkel, Richard S; Mah, Jean K; Deconinck, Nicolas; Goemans, Nathalie; Haberlova, Jana; Straub, Volker; Mengle-Gaw, Laurel J; Schwartz, Benjamin D; Harper, Amy D; Shieh, Perry B; De Waele, Liesbeth; Castro, Diana; Yang, Michelle L; Ryan, Monique M; McDonald, Craig M; Tulinius, Mar; Webster, Richard; McMillan, Hugh J; Kuntz, Nancy L; Rao, Vashmi K; Baranello, Giovanni; Spinty, Stefan; Childs, Anne-Marie; Sbrocchi, Annie M; Selby, Kathryn A; Monduy, Migvis; Nevo, Yoram; Vilchez-Padilla, Juan J; Nascimento-Osorio, Andres; Niks, Erik H; de Groot, Imelda J M; Katsalouli, Marina; James, Meredith K; van den Anker, Johannes; Damsker, Jesse M; Ahmet, Alexandra; Ward, Leanne M; Jaros, Mark; Shale, Phil; Dang, Utkarsh J; Hoffman, Eric P

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial

Vamorolone治疗杜氏肌营养不良症的疗效和安全性:一项为期30个月的非随机对照开放标签扩展试验

Mah, Jean K; Clemens, Paula R; Guglieri, Michela; Smith, Edward C; Finkel, Richard S; Tulinius, Mar; Nevo, Yoram; Ryan, Monique M; Webster, Richard; Castro, Diana; Kuntz, Nancy L; McDonald, Craig M; Damsker, Jesse M; Schwartz, Benjamin D; Mengle-Gaw, Laurel J; Jackowski, Stefan; Stimpson, Georgia; Ridout, Deborah A; Ayyar-Gupta, Vandana; Baranello, Giovanni; Manzur, Adnan Y; Muntoni, Francesco; Gordish-Dressman, Heather; Leinonen, Mika; Ward, Leanne M; Hoffman, Eric P; Dang, Utkarsh J

Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness

突变型秀丽隐杆线虫线粒体融合蛋白导致线粒体DNA异质性缺失在世代间选择性清除,从而维持适应性。

Meshnik, Lana; Bar-Yaacov, Dan; Kasztan, Dana; Neiger, Tali; Cohen, Tal; Kishner, Mor; Valenci, Itay; Dadon, Sara; Klein, Christopher J; Vance, Jeffery M; Nevo, Yoram; Züchner, Stephan; Ovadia, Ofer; Mishmar, Dan; Ben-Zvi, Anat

Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients

脑脊液中的肌肉微RNA可预测II型和III型脊髓性肌萎缩症患者对诺西那生治疗的临床反应

Magen, Iddo; Aharoni, Sharon; Yacovzada, Nancy Sarah; Tokatly Latzer, Itay; Alves, Christiano R R; Sagi, Liora; Fattal-Valevski, Aviva; Swoboda, Kathryn J; Katz, Jacob; Bruckheimer, Elchanan; Nevo, Yoram; Hornstein, Eran

Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

一名患有 COVID-19 局灶性脑动脉病变的幼儿的临床症状有所改善,可能与动脉内注射尼莫地平有关。

Avital, Dekel; Peretz, Shlomi; Perlow, Eliauh; Konen, Osnat; Inbar, Edna; Bulkowstein, Yarden; Nahum, Elhanan; Aharoni, Sharon; Vig, Lital Cohen; Nevo, Yoram; Auriel, Eitan; Straussberg, Rachel

Liposomal Bupivacaine (Bupigel) Demonstrates Minimal Local Nerve Toxicity in a Rabbit Functional Model

脂质体布比卡因(Bupigel)在兔功能模型中表现出极低的局部神经毒性

Bavli, Yaelle; Rabie, Malcolm; Fellig, Yakov; Nevo, Yoram; Barenholz, Yechezkel

COVID-19 in advanced Duchenne/Becker muscular dystrophy patients

晚期杜氏/贝克尔肌营养不良症患者的 COVID-19

Levine, Hagit; Prais, Dario; Aharoni, Sharon; Nevo, Yoram; Katz, Julia; Rahmani, Eyal; Goldberg, Lotem; Scheuerman, Oded