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

Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study

Eteplirsen治疗杜氏肌营养不良症:一项定性患者体验研究

Iff, Joel; Carmichael, Chloe; McKee, Stephanie; Sehinovych, Ihor; McNeill, Carolyn; Tesi-Rocha, Carolina; Henricson, Erik; Muntoni, Francesco; Kitchen, Helen

Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)

评估辅助六分钟自行车测试作为脊髓性肌萎缩症(SMA)非行走患者耐力指标的有效性

Tang, Whitney J; Gu, Bo; Montalvo, Samuel; Dunaway Young, Sally; Parker, Dana M; de Monts, Constance; Ataide, Paxton; Ni Ghiollagain, Noirin; Wheeler, Matthew T; Tesi Rocha, Carolina; Christle, Jeffrey W; He, Zihuai; Day, John W; Duong, Tina

Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy

脊髓性肌萎缩症患者接受诺西那生治疗后脑脊液蛋白质组学变化

Beaudin, Marie; Kamali, Tahereh; Tang, Whitney; Hagerman, Katharine A; Dunaway Young, Sally; Ghiglieri, Lisa; Parker, Dana M; Lehallier, Benoit; Tesi-Rocha, Carolina; Sampson, Jacinda B; Duong, Tina; Day, John W

Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy

主要不良肌营养不良事件(MADE)评分作为杜氏肌营养不良症男孩累积发病率和死亡风险的标志物

Kaufman, Beth D; Garcia, Ariadna; He, Zihuai; Tesi-Rocha, Carolina; Buu, MyMy; Rosenthal, David; Gordish-Dressman, Heather; Almond, Christopher S; Duong, Tina

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Reldesemtiv治疗脊髓性肌萎缩症患者:一项II期假设生成研究

Rudnicki, Stacy A; Andrews, Jinsy A; Duong, Tina; Cockroft, Bettina M; Malik, Fady I; Meng, Lisa; Wei, Jenny; Wolff, Andrew A; Genge, Angela; Johnson, Nicholas E; Tesi-Rocha, Carolina; Connolly, Anne M; Darras, Basil T; Felice, Kevin; Finkel, Richard S; Shieh, Perry B; Mah, Jean K; Statland, Jeffrey; Campbell, Craig; Habib, Ali A; Kuntz, Nancy L; Oskoui, Maryam; Day, John W

Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

更正:Reldesemtiv治疗脊髓性肌萎缩症患者:一项II期假设生成研究

Rudnicki, Stacy A; Andrews, Jinsy A; Duong, Tina; Cockroft, Bettina M; Malik, Fady I; Meng, Lisa; Wei, Jenny; Wolff, Andrew A; Genge, Angela; Johnson, Nicholas E; Tesi-Rocha, Carolina; Connolly, Anne M; Darras, Basil T; Felice, Kevin; Finkel, Richard S; Shieh, Perry B; Mah, Jean K; Statland, Jeffrey; Campbell, Craig; Habib, Ali A; Kuntz, Nancy L; Oskoui, Maryam; Day, John W

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

肌营养不良症疾病进展评估:一项为期1年的队列研究

Moore, Ursula; Jacobs, Marni; James, Meredith K; Mayhew, Anna G; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E; Lofra, Robert Muni; Blamire, Andrew M; Carlier, Pierre G; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M; Montiel-Morillo, Elena; Pedrosa-Hernández, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurélie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Prügel, Juliana; Maron, Elke; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Díaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

肌纤维蛋白病患者的肌肉磁共振成像:模式识别及其对临床试验的意义

Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K; Mayhew, Anna; Smith, Fiona E; Moore, Ursula R; Blamire, Andrew M; Carlier, Pierre G; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Rico Gala, Susana; Turk, Suna; Coppenrath, Eva M; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T; Otero, Hansel; Foster, Sheryl L; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmuller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

青少年时期运动与肌营养不良症症状提前出现相关:一项回顾性队列研究

Moore, Ursula R; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G; Blamire, Andrew; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

'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