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

Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice

核糖醇和核糖处理对FKRP突变小鼠肌肉组织的代谢产生不同的影响。

Cataldi, Marcela P; Lu, Qi L

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

Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

FKRP相关肢带型肌营养不良症R9患者的失眠和睡眠呼吸障碍。挪威LGMDR9队列研究(2020)

Jensen, Synnøve; Abeler, Karin; Friborg, Oddgeir; Rosner, Assami; Olsborg, Caroline; Mellgren, Svein Ivar; Müller, Kai Ivar; Rosenberger, Andreas Dybesland; Vold, Monica L; Arntzen, Kjell Arne

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9

FKRP相关肢带型肌营养不良症患者的健康相关生活质量 R9

Jensen, Synnøve M; Friborg, Oddgeir; Mellgren, Svein Ivar; Müller, Kai Ivar; Bergvik, Svein; Arntzen, Kjell Arne

Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I

FKRP AAV 基因治疗联合核糖醇治疗 LGMD2I 疗效提高

Marcela P Cataldi, Charles H Vannoy, Anthony Blaeser, Jason D Tucker, Victoria Leroy, Raegan Rawls, Jessalyn Killilee, Molly C Holbrook, Qi Long Lu

CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy

CRISPR-Cas9 KO 细胞系生成和 rAAV-FKRP 基因治疗细胞效力测定的开发

Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, Evelyne Gicquel, Grégory Rouby, Isabelle Richard, Romain Fragnoud

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

先天性和肢带型肌营养不良症中福库汀相关蛋白(FKRP)变体的错误折叠

Esapa, Christopher T; McIlhinney, R A Jeffrey; Waite, Adrian J; Benson, Matthew A; Mirzayan, Jasmin; Piko, Henriett; Herczegfalvi, Ágnes; Horvath, Rita; Karcagi, Veronika; Walter, Maggie C; Lochmüller, Hanns; Rizkallah, Pierre J; Lu, Qi L; Blake, Derek J

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

印度患者 FKRP 相关肌营养不良症的表型基因型特征

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan, Saraswati Nashi, Seena Vengalil, Veeramani Preethish-Kumar, Ravi Kiran Valasani, Akshata Huddar, Vikas Nishadham, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini

Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9)

FKRP相关肢带型肌营养不良症(LGMDR9)的视网膜电图异常

Hagedorn, Joshua L; Dunn, Taylor M; Bhattarai, Sajag; Stephan, Carrie; Mathews, Katherine D; Pfeifer, Wanda; Drack, Arlene V

Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

一例由FKRP墨西哥创始人突变c.1387A>G引起的先天性肌营养不良症患者的新型放射学脑部异常:文献综述

Cervera-Gaviria, Marivi; Enterría-Rosales, Julia; Juárez-Vignon-Whaley, Juan José; García-Sánchez, Julián; Treviño-Velasco, Rodrigo; Cervera-Gaviria, Jaime