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

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

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

复发性 TTN 元转录本 c.39974-11T>G 剪接变异与常染色体隐性遗传性先天性多发性关节挛缩症和肌病相关

Bryen, Samantha J; Ewans, Lisa J; Pinner, Jason; MacLennan, Suzanna C; Donkervoort, Sandra; Castro, Diana; Töpf, Ana; O'Grady, Gina; Cummings, Beryl; Chao, Katherine R; Weisburd, Ben; Francioli, Laurent; Faiz, Fathimath; Bournazos, Adam M; Hu, Ying; Grosmann, Carla; Malicki, Denise M; Doyle, Helen; Witting, Nanna; Vissing, John; Claeys, Kristl G; Urankar, Kathryn; Beleza-Meireles, Ana; Baptista, Julia; Ellard, Sian; Savarese, Marco; Johari, Mridul; Vihola, Anna; Udd, Bjarne; Majumdar, Anirban; Straub, Volker; Bönnemann, Carsten G; MacArthur, Daniel G; Davis, Mark R; Cooper, Sandra T

Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

胶原蛋白VI相关营养不良并发气胸:病例系列及治疗建议

Fraser, Kristin L; Wong, Scott; Foley, A Reghan; Chhibber, Sameer; Bönnemann, Carsten G; Lesser, Daniel J; Grosmann, Carla; Rutkowski, Anne

The Role of PIEZO2 in Human Mechanosensation

PIEZO2在人类机械感觉中的作用

Chesler, Alexander T; Szczot, Marcin; Bharucha-Goebel, Diana; Čeko, Marta; Donkervoort, Sandra; Laubacher, Claire; Hayes, Leslie H; Alter, Katharine; Zampieri, Cristiane; Stanley, Christopher; Innes, A Micheil; Mah, Jean K; Grosmann, Carla M; Bradley, Nathaniel; Nguyen, David; Foley, A Reghan; Le Pichon, Claire E; Bönnemann, Carsten G

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

GDP-甘露糖焦磷酸化酶B的突变会导致先天性和肢带型肌营养不良症,并伴有α-肌营养不良蛋白聚糖的糖基化不足。

Carss, Keren J; Stevens, Elizabeth; Foley, A Reghan; Cirak, Sebahattin; Riemersma, Moniek; Torelli, Silvia; Hoischen, Alexander; Willer, Tobias; van Scherpenzeel, Monique; Moore, Steven A; Messina, Sonia; Bertini, Enrico; Bönnemann, Carsten G; Abdenur, Jose E; Grosmann, Carla M; Kesari, Akanchha; Punetha, Jaya; Quinlivan, Ros; Waddell, Leigh B; Young, Helen K; Wraige, Elizabeth; Yau, Shu; Brodd, Lina; Feng, Lucy; Sewry, Caroline; MacArthur, Daniel G; North, Kathryn N; Hoffman, Eric; Stemple, Derek L; Hurles, Matthew E; van Bokhoven, Hans; Campbell, Kevin P; Lefeber, Dirk J; Lin, Yung-Yao; Muntoni, Francesco