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

Salsi, Valentina; Losi, Francesca; Pini, Sara; Chiara, Matteo; Tupler, Rossella

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

Ralic, Branislav; Albano, Noemi; Viric, Vanja; Nuredini, Andi; Azanjac, Ana Arsic; Rajic, Sonja; Marjanovic, Ana; Tupler, Rossella; Heatwole, Chad; Peric, Stojan

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

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

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

Quintiero, Venere; Crisafulli, Oscar; Diotti, Daniele; Tupler, Rossella; Negro, Massimo; Lavaselli, Emanuela; D'Antona, Giuseppe

PDNO-13 IMPORTANCE OF SECOND OPINION IN DIAGNOSIS OF BRAIN TUMOR IN A LIMITED RESOURCE SETTING; A CASE REPORT OF 7YRS FEMALE WITH BRAIN TUMOR

PDNO-13 在资源有限的情况下,第二诊疗意见在脑肿瘤诊断中的重要性;一例7岁女性脑肿瘤病例报告

Kim, Jieun; Choi, In-Young; Michaelis, Mary L; Lee, Phil; Saifullah, Khalid; Ridwan, Abdur Raquib; Bennett, David A; Schneider, Julie A; Arfanakis, Konstantinos; Saifullah, Khalid; Ridwan, Abdur Raquib; Bennett, David A; Schneider, Julie A; Arfanakis, Konstantinos; Chowdhury, Gulam Mahfuz; Tazwar, Mahir; Evia, Arnold M Jr; Kapasi, Alifiya; Agrawal, Sonal; Bennett, David A; Schneider, Julie A; Arfanakis, Konstantinos; Akushevich, Igor; Yashkin, Arseniy; Tupler, Larry; Ouyang, Meishuo; Kravchenko, Julia; Quivira‐Lopesino, Adrián; Cuesta, Pablo; Suárez, Isabel; Maestú, Fernando; Pytel, Dariusz; Carter, Shelby; Hill, William; Longo, Jody F; Malango, Atuganile; Kwikima, Ugumba; Mtei, John

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

Salsi Valentina, Losi Francesca, Salani Monica, Kaufman Paul D, Tupler Rossella

The absolute and relative concentration-response patterns of exposure to ambient air pollutants and the risk of Alzheimer's disease

环境空气污染物暴露的绝对和相对浓度-反应模式与阿尔茨海默病风险

Akushevich, Igor; Yashkin, Arseniy; Tupler, Larry A; Ouyang, Meishuo; Kravchenko, Julia

Olfactory dysfunction with traumatic brain injury and posttraumatic-stress symptoms in post-deployed military personnel

创伤性脑损伤和创伤后应激症状引起的嗅觉功能障碍在部署后军人中的表现

Shura, Robert D; Pickett, Treven C; Powell, Jacob; Yoash-Gantz, Ruth; McDonald, Scott D; Walker, William C; Rowland, Jared A; Tupler, Larry A

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

Crisafulli, Oscar; Bottoni, Giorgio; Lacetera, Jessica; Fassio, Federico; Grattarola, Luca; Lavaselli, Emanuela; Giovanetti, Giuseppe; Tupler, Rossella; Negro, Massimo; D'Antona, Giuseppe

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

Quintiero, Venere; Crisafulli, Oscar; Lacetera, Jessica; Bottoni, Giorgio; Negro, Massimo; Tupler, Rossella; Lavaselli, Emanuela; D'Antona, Giuseppe