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

SMCHD1 maintains heterochromatin, genome compartments and epigenome landscape in human myoblasts.

SMCHD1 维持人类成肌细胞中的异染色质、基因组区室和表观基因组景观

Huang Zhijun, Cui Wei, Ratnayake Ishara, Gallik Kristin L, Cohen Lorna, Tawil Rabi, Pfeifer Gerd P

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

三维组织工程骨骼肌模型面肩肱型肌营养不良症

Franken, Marnix; van der Wal, Erik; Zheng, Dongxu; den Hamer, Bianca; van der Vliet, Patrick J; Lemmers, Richard J L F; van den Heuvel, Anita; Dorn, Alexandra L; Duivenvoorden, Cas G A; In 't Groen, Stijn L M; Freund, Christian; Eussen, Bert; Tawil, Rabi; van Engelen, Baziel G M; Pijnappel, W W M Pim; van der Maarel, Silvère M; de Greef, Jessica C

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

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

面肩肱型肌营养不良症中顺式D4Z4重复序列重复等位基因的常染色体显性遗传

Lemmers, Richard J L F; Butterfield, Russell; van der Vliet, Patrick J; de Bleecker, Jan L; van der Pol, Ludo; Dunn, Diane M; Erasmus, Corrie E; D'Hooghe, Marc; Verhoeven, Kristof; Balog, Judit; Bigot, Anne; van Engelen, Baziel; Statland, Jeffrey; Bugiardini, Enrico; van der Stoep, Nienke; Evangelista, Teresinha; Marini-Bettolo, Chiara; van den Bergh, Peter; Tawil, Rabi; Voermans, Nicol C; Vissing, John; Weiss, Robert B; van der Maarel, Silvère M

AI driven analysis of MRI to measure health and disease progression in FSHD

利用人工智能驱动的MRI分析来评估FSHD患者的健康状况和疾病进展。

Riem, Lara; DuCharme, Olivia; Cousins, Matthew; Feng, Xue; Kenney, Allison; Morris, Jacob; Tapscott, Stephen J; Tawil, Rabi; Statland, Jeff; Shaw, Dennis; Wang, Leo; Walker, Michaela; Lewis, Leann; Jacobs, Michael A; Leung, Doris G; Friedman, Seth D; Blemker, Silvia S

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

面肩肱型肌营养不良症的区域性和双侧MRI及基因特征:对临床试验设计和疾病进展机制的启示

Wong, Chao-Jen; Friedman, Seth D; Snider, Lauren; Bennett, Sean R; Jones, Takako I; Jones, Peter L; Shaw, Dennis W W; Blemker, Silvia S; Riem, Lara; DuCharme, Olivia; Lemmers, Richard J F L; van der Maarel, Silvère M; Wang, Leo H; Tawil, Rabi; Statland, Jeffrey M; Tapscott, Stephen J

A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD)

面肩肱型肌营养不良症(FSHD)疾病进展的纵向研究

Varma, Anika; Todinca, Michael S; Eichinger, Katy; Heininger, Susanne; Dilek, Nuran; Martens, William; Tawil, Rabi; Statland, Jeffrey; Kissel, John T; McDermott, Michael P; Heatwole, Chad

Identification of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy

鉴定杜氏肌营养不良症和面肩肱型肌营养不良症的疾病特异性细胞外囊泡相关血浆蛋白生物标志物

Bayazit, Mustafa Bilal; Henderson, Don; Nguyen, Kim Truc; Reátegui, Eduardo; Tawil, Rabi; Flanigan, Kevin M; Harper, Scott Q; Saad, Nizar Y

SMCHD1 maintains heterochromatin and genome compartments in human myoblasts

SMCHD1维持人类成肌细胞中的异染色质和基因组区室结构

Huang, Zhijun; Cui, Wei; Ratnayake, Ishara; Tawil, Rabi; Pfeifer, Gerd P