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

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats

在端粒到端粒时代重新思考面肩肱型肌营养不良症的基因组学：D4Z4重复序列隐藏图景中的陷阱

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-02000-x
Salsi, Valentina; Losi, Francesca; Pini, Sara; Chiara, Matteo; Tupler, Rossella
发表日期：2026
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Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy

塞尔维亚面肩肱型肌营养不良症患者的疾病负担

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2026.1720488
Ralic, Branislav; Albano, Noemi; Viric, Vanja; Nuredini, Andi; Azanjac, Ana Arsic; Rajic, Sonja; Marjanovic, Ana; Tupler, Rossella; Heatwole, Chad; Peric, Stojan
发表日期：2026
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Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis.

核仁 FRG2 lncRNA 抑制 rRNA 转录和细胞质翻译，将 FSHD 与肌肉特异性蛋白质合成失调联系起来

期刊:Nucleic Acids Research
影响因子:13.1
doi:10.1093/nar/gkaf643
Salsi Valentina, Losi Francesca, Fosso Bruno, Ferrarini Marco, Pini Sara, Manfredi Marcello, Vattemi Gaetano, Mongini Tiziana, Maggi Lorenzo, Pesole Graziano, Henras Anthony K, Kaufman Paul D, McStay Brian, Tupler Rossella
细胞生物学
发表日期：2025
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State-of-the-Art and Future Challenges for Nutritional Interventions in Facioscapulohumeral Dystrophy: A Narrative Review

面肩肱型肌营养不良症营养干预的最新进展及未来挑战：叙述性综述

期刊:Nutrients
影响因子:5
doi:10.3390/nu17061056
Quintiero, Venere; Crisafulli, Oscar; Diotti, Daniele; Tupler, Rossella; Negro, Massimo; Lavaselli, Emanuela; D'Antona, Giuseppe
发表日期：2025
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Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

基因毒性应激反应中人类 4q35 端粒 RNA FRG2、DBE-T、D4Z4 的转录后 RNA 稳定性以及 D4Z4 宏卫星重复长度

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-025-01881-5
Salsi Valentina, Losi Francesca, Salani Monica, Kaufman Paul D, Tupler Rossella
其它
Human
氧化应激
发表日期：2025
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Interplay between balance, gait kinematic and physical activity level in facioscapulohumeral muscular dystrophy

面肩肱型肌营养不良症患者的平衡、步态运动学和身体活动水平之间的相互作用

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-26924-y
Crisafulli, Oscar; Sozzi, Stefania; Quintiero, Venere; Negro, Massimo; Tupler, Rossella; Ramat, Stefano; Stella, Giulia Maria; Schmid, Micaela; D'Antona, Giuseppe
发表日期：2025
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Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy

面肩肱型营养不良患者去脂体重及其亚成分的生物电阻抗分析及其与最大摄氧量的相对关联

期刊:European Journal of Applied Physiology
影响因子:2.7
doi:10.1007/s00421-024-05581-5
Crisafulli, Oscar; Bottoni, Giorgio; Lacetera, Jessica; Fassio, Federico; Grattarola, Luca; Lavaselli, Emanuela; Giovanetti, Giuseppe; Tupler, Rossella; Negro, Massimo; D'Antona, Giuseppe
发表日期：2025
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Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study

面肩肱型肌营养不良症患者体液分布、相位角及其与最大摄氧量的关系分析：一项观察性研究

期刊:Health Science Reports
影响因子:2.1
doi:10.1002/hsr2.70335
Crisafulli, Oscar; Baptista, Renato; Drid, Patrik; Grattarola, Luca; Bottoni, Giorgio; Lavaselli, Emanuela; Negro, Massimo; Tupler, Rossella; Quintiero, Venere; D'Antona, Giuseppe
发表日期：2025
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Effects of a Combined Nutritional and Physical Training Program Approach in a Case of Facioscapulohumeral Dystrophy: A One-Year Follow-Up

营养与体能训练相结合的治疗方案对一例面肩肱型肌营养不良症患者的影响：一年随访

期刊:Case Reports in Medicine
影响因子:0.7
doi:10.1155/carm/7873892
Quintiero, Venere; Crisafulli, Oscar; Lacetera, Jessica; Bottoni, Giorgio; Negro, Massimo; Tupler, Rossella; Lavaselli, Emanuela; D'Antona, Giuseppe
发表日期：2025
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Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders

利用人工智能赋能临床医生，以应对遗传性神经肌肉疾病

期刊:Acta Myologica
影响因子:
doi:10.36185/2532-1900-927
Nuredini, Andi; Savarese, Marco; Santorelli, Filippo Maria; Tupler, Rossella Ginevra
发表日期：2025
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