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

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study

针对患有 X 连锁肌管性肌病儿童的基因疗法:ASPIRO 研究出版物的通俗易懂的摘要

Shieh, Perry B; Hughes, Wendy; Wood, Marie; Beggs, Alan H; Lawlor, Michael W; Coats, Julie; Varfaj, Fatbardha; Graham, Robert J; Kuntz, Nancy L; Dowling, James J; Müller-Felber, Wolfgang; Bönnemann, Carsten G; Buj Bello, Ana; Servais, Laurent; MacBean, Vicky; Muntoni, Francesco; Foley, A Reghan; Blaschek, Astrid; James, Emma S; Seferian, Andreea; Alfano, Lindsay N; Duong, Tina; Noursalehi, Mojtaba; Miller, Weston; Lee, Jun; Prasad, Suyash; Rico, Salvador

Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis

Spastin 调节内质网-线粒体接触位点和线粒体稳态

Amelie Raby, Sonia Missiroli, Peggy Sanatine, Dominique Langui, Julien Pansiot, Nissai Beaude, Lucie Vezzana, Rachelle Saleh, Martina Marinello, Mireille Laforge, Paolo Pinton, Ana Buj-Bello, Andrea Burgo

Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle

MTM1缺陷型骨骼肌中T小管网络紊乱导致钙释放异步。

Szentesi, Peter; Dienes, Beatrix; Kutchukian, Candice; Czirjak, Tamas; Buj-Bello, Ana; Jacquemond, Vincent; Csernoch, László

AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy

AAV 介导的基因转移使 X 连锁肌管性肌病犬模型的肌肉转录组恢复正常

Jean-Baptiste Dupont, Jianjun Guo, Edith Renaud-Gabardos, Karine Poulard, Virginie Latournerie, Michael W Lawlor, Robert W Grange, John T Gray, Ana Buj-Bello, Martin K Childers, David L Mack

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice

人类 DMPK 基因内扩增的 CTG 重复序列的基因组编辑减少了 DM1 小鼠肌肉中的核 RNA 焦点

Mirella Lo Scrudato, Karine Poulard, Célia Sourd, Stéphanie Tomé, Arnaud F Klein, Guillaume Corre, Aline Huguet, Denis Furling, Geneviève Gourdon, Ana Buj-Bello

X-linked myotubular myopathy: A prospective international natural history study

X连锁肌管性肌病:一项前瞻性国际自然史研究

Annoussamy, Mélanie; Lilien, Charlotte; Gidaro, Teresa; Gargaun, Elena; Chê, Virginie; Schara, Ulrike; Gangfuß, Andrea; D'Amico, 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; Servais, Laurent

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

静脉注射编码 MTMR2 的 AAV 载体可改善小鼠肌管性肌病的表型

Nathalie Danièle, Christelle Moal, Laura Julien, Martina Marinello, Thibaud Jamet, Samia Martin, Alban Vignaud, Michael W Lawlor, Ana Buj-Bello

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

神经肌肉疾病中肌生长抑制素通路的下调可能解释抗肌生长抑制素治疗方法的挑战

Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro M Machado, Thomas Voit, Ana Buj-Bello, Julie Dumonceaux4

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

系统性基因治疗对犬肌管性肌病模型的长期影响

Elverman, Matthew; Goddard, Melissa A; Mack, David; Snyder, Jessica M; Lawlor, Michael W; Meng, Hui; Beggs, Alan H; Buj-Bello, Ana; Poulard, Karine; Marsh, Anthony P; Grange, Robert W; Kelly, Valerie E; Childers, Martin K

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

PIK3C2B 抑制可改善肌管性肌病动物模型的功能并延长生存期

Nesrin Sabha, Jonathan R Volpatti, Hernan Gonorazky, Aaron Reifler, Ann E Davidson, Xingli Li, Nadine M Eltayeb, Claudia Dall'Armi, Gilbert Di Paolo, Susan V Brooks, Ana Buj-Bello, Eva L Feldman, James J Dowling