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

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

奥米加匹治疗 LAMA2 或 COL6 相关肌营养不良症患者的 1 期开放标签研究

Foley, A Reghan; Yun, Pomi; Leach, Meganne E; Neuhaus, Sarah B; Averion, Gilberto V; Hu, Ying; Hayes, Leslie H; Donkervoort, Sandra; Jain, Minal S; Waite, Melissa; Parks, Rebecca; Bharucha-Goebel, Diana X; Mayer, Oscar H; Zou, Yaqun; Fink, Margaret; DeCoster, Jameice; Mendoza, Christopher; Arévalo, Cynthia; Hausmann, Rudolf; Petraki, Diana; Cheung, Ken; Bönnemann, Carsten G

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

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

初始最大运动能力与COL6相关营养不良患者长期功能预后的相关性

Natera-de Benito, Daniel; Foley, A Reghan; Domínguez-González, Cristina; Ortez, Carlos; Jain, Minal; Mebrahtu, Aron; Donkervoort, Sandra; Hu, Ying; Fink, Margaret; Yun, Pomi; Ogata, Tracy; Medina, Julita; Vigo, Meritxell; Meilleur, Katherine G; Leach, Meganne E; Dastgir, Jahannaz; Díaz-Manera, Jordi; Carrera-García, Laura; Expósito-Escudero, Jessica; Alarcon, Macarena; Cuadras, Daniel; Montiel-Morillo, Elena; Milisenda, José C; Dominguez-Rubio, Raul; Olivé, Montse; Colomer, Jaume; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Bönnemann, Carsten G; Nascimento, Andres

Hypoglycemia in patients with congenital muscle disease

先天性肌肉疾病患者的低血糖症

Hayes, Leslie H; Yun, Pomi; Mohassel, Payam; Norato, Gina; Donkervoort, Sandra; Leach, Meganne E; Alvarez, Rachel; Rutkowski, Anne; Shaw, Natalie D; Foley, A Reghan; Bönnemann, Carsten G

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods

严重ACTA1相关肌病中细胞质体病变,但无典型线状体

Donkervoort, Sandra; Chan, Sophelia H S; Hayes, Leslie H; Bradley, Nathaniel; Nguyen, David; Leach, Meganne E; Mohassel, Payam; Hu, Ying; Thangarajh, Mathula; Bharucha-Goebel, Diana; Kan, Amanda; Ho, Ronnie S L; Reyes, Christine A; Nance, Jessica; Moore, Steven A; Foley, A Reghan; Bönnemann, Carsten G

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

KIF1A基因的新型从头突变是导致遗传性痉挛性截瘫并伴有进行性中枢神经系统受累的原因

Hotchkiss, Leslie; Donkervoort, Sandra; Leach, Meganne E; Mohassel, Payam; Bharucha-Goebel, Diana X; Bradley, Nathaniel; Nguyen, David; Hu, Ying; Gurgel-Giannetti, Juliana; Bönnemann, Carsten G

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

显性胶原蛋白6突变的嵌合现象是家族内表型变异的原因

Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C; Foley, A Reghan; Leach, Meganne E; Dastgir, Jahannaz; Bolduc, Véronique; Cullup, Thomas; de Becdelièvre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B; Kamsteeg, Erik-Jan; Richard, Pascale; Butterfield, Russell J; Winder, Thomas L; Crawford, Thomas O; Weiss, Robert B; Muntoni, Francesco; Allamand, Valérie; Bönnemann, Carsten G

'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia

“双重困境”:杜氏肌营养不良症合并遗传性骨骼发育不良患者的诊断挑战

Donkervoort, Sandra; Schindler, Alice; Tesi-Rocha, Carolina; Schreiber, Allison; Leach, Meganne E; Dastgir, Jahannaz; Hu, Ying; Mankodi, Ami; Wagner, Kathryn R; Friedman, Neil R; Bönnemann, Carsten G