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

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

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

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

年轻时进行体育锻炼与面肩肱型肌营养不良症后期较轻的临床表现相关。

Bettio, Cinzia; Banchelli, Federico; Salsi, Valentina; Vicini, Roberto; Crisafulli, Oscar; Ruggiero, Lucia; Ricci, Giulia; Bucci, Elisabetta; Angelini, Corrado; Berardinelli, Angela; Bonanno, Silvia; D'Angelo, Maria Grazia; Di Muzio, Antonio; Filosto, Massimiliano; Frezza, Erica; Maggi, Lorenzo; Mongini, Tiziana; Pegoraro, Elena; Rodolico, Carmelo; Scarlato, Marina; Vattemi, Gaetano; Velardo, Daniele; Tomelleri, Giuliano; D'Amico, Roberto; D'Antona, Giuseppe; Tupler, Rossella

The FSHD jigsaw: are we placing the tiles in the right position?

FSHD拼图:我们是否将拼图块放置在正确的位置?

Salsi, Valentina; Vattemi, Gaetano Nicola Alfio; Tupler, Rossella Ginevra

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy

4q35位点的新生变异和重组:面肩肱型肌营养不良症植入前基因检测的启示

Pini, Sara; Napoli, Floriana Maria; Tagliafico, Enrico; La Marca, Antonio; Bertucci, Emma; Salsi, Valentina; Tupler, Rossella

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach

面肩肱型肌营养不良症的咨询和产前诊断:一项为期13年的多学科方法回顾性研究

Di Feo, Maria Francesca; Bettio, Cinzia; Salsi, Valentina; Bertucci, Emma; Tupler, Rossella

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

意大利国家 FSHD 登记处:面向罕见病的智能医疗保健和精准医疗的增强型数据整合和分析框架

Bettio, Cinzia; Salsi, Valentina; Orsini, Mirko; Calanchi, Enrico; Magnotta, Luca; Gagliardelli, Luca; Kinoshita, June; Bergamaschi, Sonia; Tupler, Rossella

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

基于基因型-表型研究对面肩肱型肌营养不良症表观遗传特征的解读

Nikolic, Ana; Jones, Takako I; Govi, Monica; Mele, Fabiano; Maranda, Louise; Sera, Francesco; Ricci, Giulia; Ruggiero, Lucia; Vercelli, Liliana; Portaro, Simona; Villa, Luisa; Fiorillo, Chiara; Maggi, Lorenzo; Santoro, Lucio; Antonini, Giovanni; Filosto, Massimiliano; Moggio, Maurizio; Angelini, Corrado; Pegoraro, Elena; Berardinelli, Angela; Maioli, Maria Antonetta; D'Angelo, Grazia; Di Muzio, Antonino; Siciliano, Gabriele; Tomelleri, Giuliano; D'Esposito, Maurizio; Della Ragione, Floriana; Brancaccio, Arianna; Piras, Rachele; Rodolico, Carmelo; Mongini, Tiziana; Magdinier, Frederique; Salsi, Valentina; Jones, Peter L; Tupler, Rossella

Does DNA Methylation Matter in FSHD?

DNA甲基化在FSHD中起作用吗?

Salsi, Valentina; Magdinier, Frédérique; Tupler, Rossella