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

Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone

杜氏肌营养不良症的肾上腺抑制:包含新型类固醇Vamorolone的治疗策略

Sbrocchi, Anne Marie; Kinnett, Kathi; Lautatzis, Maria-Elena; McMillan, Hugh J; Selby, Kathryn A; Veerapandiyan, Aravind; Weber, David R; Apkon, Susan; Bharucha-Goebel, Diana X; Bharill, Sonum; Bansal, Shipra; Clemens, Paula R; Fiscaletti, Melissa; Halloun, Rana; Lam, Carol; Merchant, Nadia; McAdam, Laura; Nasomyont, Nat; Nicolau, Stefan; Ochoa Molina, Maria F; Phung, Kim; Rutter, Meilan M; Scavina, Mena; Surampudi, Prasanth N; Tamaroff, Jaclyn; Tian, Cuixia; Ward, Leanne M; Wood, Claire L; Wong, Sze Choong; Ahmet, Alex

Epicardial Adipose Tissue in Duchenne Muscular Dystrophy Cardiomyopathy

杜氏肌营养不良症心肌病中的心外膜脂肪组织

Greiner, Eleanor; Miles, Kimberley G; Gao, Zhiqian; Lang, Sean M; Ryan, Thomas D; Ollberding, Nicholas J; Mantell, Benjamin S; Rutter, Meilan M; Tian, Cuixia; Villa, Chet R

Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness

1型强直性肌营养不良症患者血液中活性GSK3β水平升高与肌肉无力相关

Jennings, Katherine; Tian, Cuixia; Brown, Rebeccah L; Horn, Paul S; Schoser, Benedikt; Kushlaf, Hani; Timchenko, Nikolai A; Timchenko, Lubov

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Delphi study to elicit expert consensus around decision-making in the treatment of Friedreich ataxia

德尔菲法研究旨在就弗里德赖希共济失调的治疗决策征求专家共识

Kuo, Sheng Han; Tian, Cuixia; McKay, James; England, Sarah M; Simon, Monica; Graf, Marlon; Brewer, Iris P; Land, Natalie; Chou, Jacquelyn W; Lawson, Richard

Cardiac Histopathology in Duchenne Muscular Dystrophy Demonstrates Diffuse Fibrofatty Replacement of the Myocardium

杜氏肌营养不良症的心脏组织病理学显示心肌弥漫性纤维脂肪替代

Breaux, Andrea; Lang, Sean M; Wittekind, Samuel; Ryan, Thomas D; Taylor, Michael; Greiner, Eleanor; Tian, Cuixia; Kasten, Jennifer; Sawnani, Hemant; Villa, Chet R

Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report

GOSR2复合杂合变异与先天性肌营养不良和进行性肌阵挛性癫痫相关:病例报告

Arroyo, Monica S; Fuller, Christine; Schorry, Elizabeth K; Ulm, Elizabeth; Tian, Cuixia

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations

脊髓性肌萎缩症最佳实践更新:诊断注意事项建议

Schroth, Mary; Deans, Jennifer; Arya, Kapil; Castro, Diana; De Vivo, Darryl C; Gibbons, Melissa A; Ionita, Cristian; Kuntz, Nancy L; Lakhotia, Arpita; Neil Knierbein, Erin; Scoto, Mariacristina; Sejersen, Thomas; Servais, Laurent; Tian, Cuixia; Waldrop, Megan A; Vázquez-Costa, Juan F

Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study

杜氏肌营养不良症(DMD)运动功能发生显著变化:一项多中心研究

Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Done, Nicolae; Yao, Zhiwen; Goemans, Nathalie; McDonald, Craig; Mercuri, Eugenio; Niks, Erik H; Wong, Brenda; Vandenborne, Krista; Straub, Volker; de Groot, Imelda J M; Tian, Cuixia; Manzur, Adnan; Dieye, Ibrahima; Lane, Henry; Ward, Susan J; Servais, Laurent

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