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

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

ZFHX3 GGC 重复序列扩增是 4 型脊髓小脑性共济失调的根本原因,它具有共同的祖先。

Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B; Tucci, Arianna; Mathews, Katherine D; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, José; Nennesmo, Inger; Wedell, Anna; Ptáček, Louis J; Blauwendraat, Cornelis; Gustavsson, Emil K; Svenningsson, Per; Ryten, Mina; Houlden, Henry

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

UDP-glucose dehydrogenase variants cause dystroglycanopathy.

UDP-葡萄糖脱氢酶变异体可导致肌营养不良蛋白病

Reelfs Anna M, Stephan Carrie M, Czech Theresa M, Cox Mary O, Joseph Soumya, Darbro Benjamin W, Moore Steven A, Campbell Kevin P, Mathews Katherine D

Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development

肢带型肌营养不良症科学研讨会:聚焦药物研发未来发展路径的多方利益相关者讨论会

Wicklund, Matthew P; Alfano, Lindsay N; Johnson, Nicholas E; Kang, Peter B; Marks, Peter; Mathews, Katherine D; Mendell, Jerry R; Rodino-Klapac, Louise; Sproule, Douglas; Verdun, Nicole; Bryant, Kathryn

Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy

预防性使用心脏药物与杜氏肌营养不良症患者的生存率

Conway, Kristin M; Thomas, Shiny; Neyaz, Tahereh; Ciafaloni, Emma; Mann, Joshua R; Staron-Ehlinger, Michelle; Beasley, Gary S; Romitti, Paul A; Mathews, Katherine D

Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy

面肩肱型肌营养不良症患者的听力丧失、视网膜异常和癫痫发作

Kilburn, Shannon N; Thomas, Shiny; Havlik, Anne L; Mathews, Katherine D; Street, Natalie; Soim, Aida

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

肌肉萎缩症监测、追踪和研究网络中特定肌肉萎缩症患者的疼痛经历和处方止痛药使用情况

Suhl, Jonathan; Conway, Kristin M; Thomas, Shiny; Rasmussen, Sonja A; Howard, James F; Johnson, Nicholas E; Romitti, Paul A; Mathews, Katherine D

Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network

肌营养不良症监测、追踪和研究网络中面肩肱型肌营养不良症患者的呼吸功能和评估

Mathews, Katherine D; Suhl, Jonathan; Conway, Kristin M; Moore, Amy; Alese, Joyce T; Butterfield, Russell J; Romitti, Paul A