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

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension

Lucerastat,一种用于治疗法布里病的口服药物:一项关键性随机3期研究及其开放标签扩展研究的结果

Nordbeck, Peter; Goker-Alpan, Ozlem; Bernat, John A; Germain, Dominique P; Giraldo, Pilar; Jovanovic, Ana; Kimonis, Virginia; Nicholls, Kathleen; Rockman-Greenberg, Cheryl; Schiffmann, Raphael; Thomas, Mark; Tylki-Szymanska, Anna; Wallace, Eric; Welford, Richard W D; West, Michael L; Clozel, Martine; Frey, Aline; Trokan, Luba; Mueller, Markus S; Vogler, Markus; Wanner, Christoph; Hughes, Derralynn

Antisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy

靶向含缬氨酸蛋白的反义寡核苷酸可改善多系统蛋白病细胞和小鼠模型中的肌肉病理和分子缺陷。

Pallabi Pal ,Michele Carrer ,Lan Weiss ,Olga G Jaime ,Cheng Cheng ,Alyaa Shmara ,Victoria Boock ,Danae Bosch ,Marwan Youssef ,Yasamin Fazeli ,Megan Afetian ,Tamar R Grossman ,Michael R Hicks ,Paymaan Jafar-Nejad ,Virginia Kimonis

Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.

针对庞贝氏病小鼠模型中糖原合成酶 1 的反义寡核苷酸对骨骼肌的影响

Weiss Lan, Carrer Michele, Shmara Alyaa, Martin Angela, Yin Hong, Pal Pallabi, Cheng Cheng, Ta Lac, Boock Victoria, Fazeli Yasamin, Chang Mindy, Paguio Marvin, Lee Jonathan, Yu Howard, Weiss John, Grossman Tamar R, Raben Nina, Jafar-Nejad Paymaan, Kimonis Virginia

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy

2024年VCP国际会议:探索从含缬氨酸蛋白(一种AAA+ ATPase蛋白)的基础科学到VCP相关多系统蛋白病治疗进展的多学科方法

Peck, A; Dadi, A; Yavarow, Z; Alfano, L N; Anderson, D; Arkin, M R; Chou, T F; D'Ambrosio, E S; Diaz-Manera, J; Dudley, J P; Elder, A G; Ghoshal, N; Hart, C E; Hart, M M; Huryn, D M; Johnson, A E; Jones, K B; Kimonis, V; Kiskinis, E; Lee, E B; Lloyd, T E; Mapstone, M; Martin, A; Meyer, H; Mozaffar, T; Onyike, C U; Pfeffer, G; Pindon, A; Raman, M; Richard, I; Rubinsztein, D C; Schiava, M; Schütz, A K; Shen, P S; Southworth, D R; Staffaroni, A M; Taralio-Gravovac, M; Weihl, C C; Yao, Q; Ye, Y; Peck, N

Retraction Note: Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy

撤稿声明:NLRP3炎症小体的激活与含缬氨酸蛋白肌病相关

Nalbandian, Angèle; Khan, Arif A; Srivastava, Ruchi; Llewellyn, Katrina J; Tan, Baichang; Shukr, Nora; Fazli, Yasmin; Kimonis, Virginia E; BenMohamed, Lbachir

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models

HSPB8 基因的新型突变会导致严重的早发性肌病,并累及呼吸肌和心肌,进而导致细胞模型中的蛋白质稳态缺陷。

Tedesco, Barbara; Peric, Stojan; Kocak, Goknur Selen; Tan, Jiayan; Duong, Han; Töpf, Ana; Rakocevic-Stojanovic, Vidosava; Milenkovic, Sanja; Parkhurst, Yolande; Gibbs, Liliane; Martin-Rios, Angela; Lambiase, Pier D; Guttmann, Oliver P; Marini-Bettolo, Chiara; Harris, Elizabeth; Harms, Matthew B; Ivanovic, Vukan; Marchesi, Veronica; Milone, Margherita; Timmerman, Vincent; Straub, Volker; Poletti, Angelo; Kimonis, Virginia

Expanding the Phenotype Spectrum of β-Mannosidosis

扩展β-甘露糖苷酶缺乏症的表型谱

Martin Rios, Angela M; Gibbs, Liliane H; Stepien, Karolina M; Hall, Katherine; Hall, Patricia L; Bentz Pino, Gisele; Wang, Raymond Yu-Jeang; Pillai, Nishitha R; Lund, Troy; Orchard, Paul J; Kimonis, Virginia E

Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy

利用CoRDS登记系统监测VCP多系统蛋白病患者的生活质量

Abdoalsadig, Eiman; Hamid, Merwa; Peck, Allison; Johar, Leepakshi; Kimonis, Virginia

Assessing osteopenia and osteoporosis with dual-energy x-ray absorptiometry studies in Fabry disease

利用双能X射线吸收法评估法布里病患者的骨量减少和骨质疏松症

Shmara, Alyaa; Lee, Grace; Mgdsyan, Mania; Hall, Kathy; Sadri, Nadia; Martin-Rios, Angela; Valentine, Kelsey; Kain, Tatiana; Pahl, Madeleine; Polgreen, Lynda E; Kimonis, Virginia

Bilateral avascular necrosis: A rare complication of Fabry disease

双侧无血管性坏死:法布里病的一种罕见并发症

Romano, Candela; Wells, Joel; Stanzione, Nicholas; Kimonis, Virginia