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

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9

定量测定糖基化α-肌营养不良蛋白聚糖作为肢带型肌营养不良症2I/R9型疾病严重程度的生物标志物

Vissing, John; Mozaffar, Tahseen; Johnson, Nicholas E; Mathews, Katherine D; Wicklund, Matthew P; Weihl, Conrad; Leung, Doris G; Statland, Jeffrey M; Kang, Peter B; Zingariello, Carla D; Lowes, Linda Pax; Desai, Urvi; Bates, Kameron; Alfano, Lindsay N; Xie, Han; St Romain, Jessica; Blankenbiller, Tricia; McLendon, George; Rajasingham, Thulashitha; Heitzer, Marjet; Wu-Zhang, Alyssa X; Tripp, Kenneth; Rodriguez, Hector M; Sproule, Douglas

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases

多种运动神经元疾病中超罕见基因变异的共同负担

Wu, Gang; Chen, Wenan; Wuu, Joanne; Jain, Angita; Myers, Jason; Cordts, Isabell; Rampersaud, Evadnie; Heckmann, Jeannine M; Nel, Melissa; Granit, Volkan; Statland, Jeffrey; Swenson, Andrea; Ravits, John; McMillan, Corey T; Elman, Lauren; Caress, James; Burns, Ted M; Pioro, Erik P; Trivedi, Jaya; Katz, Jonathan; Jackson, Carlayne; Maiser, Samuel; Walk, David; So, Yuen; McCauley, Jacob L; Baker, Matthew C; Taylor, J Paul; Zuchner, Stephan; Rademakers, Rosa; van Blitterswijk, Marka; Benatar, Michael

Multi-scale machine learning model predicts muscle and functional disease progression

多尺度机器学习模型预测肌肉和功能性疾病进展

Blemker, Silvia S; Riem, Lara; DuCharme, Olivia; Pinette, Megan; Costanzo, Kathryn Eve; Weatherley, Emma; Statland, Jeff; Tapscott, Stephen J; Wang, Leo H; Shaw, Dennis W W; Song, Xing; Leung, Doris; Friedman, Seth D

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study

一项关于FKRP相关肢带型肌营养不良症R9的前瞻性观察研究:GRASP联盟研究

Alfano, Lindsay N; James, Meredith K; Grosfjeld Petersen, Kristine; Rudolf, Karen; Vissing, John; Augsburger, Renee; Mozaffar, Tahseen; Jones, Aileen; Butler, Amanda; Laubscher, Katie M; Mockler, Shelley R H; Mathews, Katherine D; Iammarino, Megan A; Reash, Natalie F; Pietruszewski, Lindsay; Lowes, Linda P; Strahler, Talia; Wicklund, Matthew; Hunn, Stephanie; Weihl, Conrad C; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M; Stinson, Nikia; Holzer, Megan; Leung, Doris G; Lott, Donovan J; Kang, Peter B; Holsten, Scott; Desai, Urvi; Johnson, Nicholas E

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

肢带型肌营养不良症R1(LGMDR1)临床试验准备情况:GRASP联盟研究

Hunn, Stephanie M; Alfano, Lindsay N; Jones, Aileen; Butler, Amanda; Lowes, Linda P; Iammarino, Megan A; Reash, Natalie F; Pietruszewski, Lindsay; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M; Strahler, Talia; Will, Robert; Wicklund, Matthew; Dixon, Stacy; Augsburger, Renee; Mozaffar, Tahseen; Laubscher, Katie M; Mockler, Shelley R H; Mathews, Katherine D; Stinson, Nikia; Leung, Doris G; Stark, Molly M; Horton, Rebecca A; Kang, Peter B; James, Meredith K; Clause, Amanda; Weihl, Conrad C; Johnson, Nicholas E

A 40-week phase 2B randomized, multicenter, double-blind, placebo-controlled study evaluating the safety and efficacy of memantine in amyotrophic lateral sclerosis

一项为期 40 周的 2B 期随机、多中心、双盲、安慰剂对照研究,旨在评估美金刚治疗肌萎缩侧索硬化症的安全性和有效性。

Bhai, Salman; Levine, Todd; Moore, Dan; Bowser, Robert; Heim, Andrew J; Walsh, Maureen; Shibani, Aziz; Simmons, Zachary; Grogan, James; Goyal, Namita A; Govindarajan, Raghav; Hussain, Yessar; Papsdorf, Tania; Schwasinger-Schmidt, Tiffany; Olney, Nick; Goslin, Kim; Pulley, Michael; Kasarskis, Edward; Weiss, Michael; Katz, Susan W; Moser, Suzan; Jabari, Duaa; Jawdat, Omar; Statland, Jeffrey; Dimachkie, Mazen M; Barohn, Richard

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

面肩肱型肌营养不良症患者可达工作空间的力量和功能相关性

Wang, Leo H; Hatch, Maya N; McDermott, Michael P; Martens, William B; Eichinger, Katy; Lewis, Leann; Walker, Michaela; Leung, Doris G; Wagner, Kathryn R; Sacconi, Sabrina; Mul, Karlien; Shieh, Perry B; Elsheikh, Bakri; Butterfield, Russell J; Johnson, Nicholas E; Sansone, Valeria; Han, Jay J; Tawil, Rabi; Statland, Jeffrey M

3D finite element models reveal regional fatty infiltration modulates tibialis anterior force generating capacity in FSHD

三维有限元模型揭示,区域性脂肪浸润调节FSHD患者胫前肌的力生成能力。

McCrady, Allison; Friedman, Seth; Wang, Leo; Shaw, Dennis; Tawil, Rabi; Statland, Jeffery; Tapscott, Stephen; Blemker, Silvia

Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study

建立1型强直性肌营养不良症(END-DM1)的生物标志物和临床终点:一项国际自然史研究方案

Mul, Karlien; Eichinger, Kate; Hung, Man; Sansone, Valeria A; Gagnon, Cynthia; Subramony, Sub; Roxburgh, Richard H; Hamel, Johanna; Statland, Jeffrey M; Elsheikh, Bakri; Turner, Chris; Sampson, Jacinda; Ragole, Thomas; Matthews, Emma; Schoser, Benedikt; Swenson, Andrea; Laverty, Chamindra; Shieh, Perry; Greene, Ericka P; Takahashi, Masanori; Wicklund, Matthew; Dekdebrun, Jeanne; Raymond, Jennifer; DeSpain, Erin; Thornton, Charles A; Johnson, Nicholas E

Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial

来自 041 研究的确认性长期疗效和安全性结果,该研究是一项国际性、随机、双盲、安慰剂对照的 III 期试验,旨在评估阿塔卢伦治疗非转移性杜氏肌营养不良症 (nmDMD) 患者的疗效和安全性。

Vlodavets, Dmitry; Wu, Shiwen; Kostera-Pruszczyk, Anna; Chae, Jong-Hee; Gulati, Sheffali; Shin, Jin-Hong; Lorentzos, Michelle; Cairns, Anita; Jong, Yuh-Jyh; Komaki, Hirofumi; Statland, Jeffrey; de Queiroz Campos Araujo, Alexandra Prufer; Gurgel-Giannetti, Juliana; Takeshima, Yasuhiro; Escobar Cedillo, Rosa E; Karachunski, Peter; Haginoya, Kazuhiro; Penematsa, Vinay; Chou, Connie; Williams, Paula; Werner, Christian; McDonald, Craig M