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

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

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

一项针对患有VI型胶原蛋白相关肌病的大型意大利队列的COL6A1、COL6A2和COL6A3致病变异的全国性报告

Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D'Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen

对接受诺西那生治疗的SMA II型和III型患者进行4年HFMSE评分变化的纵向评估

Coratti, Giorgia; Bovis, Francesca; Pane, Marika; Pasternak, Amy; Albamonte, Emilio; Mizzoni, Irene; Glanzman, Allan M; Morando, Simone; Montes, Jacqueline; Cavallina, Ilaria; Dunaway Young, Sally; Duong, Tina; Rolle, Enrica; Civitello, Matthew; De Sanctis, Roberto; Bravetti, Chiara; Ricci, Federica; Gadaleta, Giulio; Mongini, Tiziana; Sframeli, Maria; Pera, Maria Carmela; Messina, Sonia; D'Amico, Adele; Catteruccia, Michela; Brolatti, Noemi; Hirano, Michio; Zolkipli-Cunningham, Zarazuela; Darras, Basil T; Bertini, Enrico; Bruno, Claudio; Day, John; Sansone, Valeria A; Finkel, Richard S; Mercuri, Eugenio

Co-expression of bovine leukemia virus and bovine foamy virus-derived miRNAs in naturally infected cattle

在自然感染的牛中,牛白血病病毒和牛泡沫病毒衍生的miRNA共表达

Petersen, M I; Suarez Archilla, G; Perez, C V; Gonzalez, D D; Trono, K G; Mongini, C; Jaworski, J P; Carignano, H A

Italian validation of the SMA independence scale-upper limb module

意大利对SMA独立性量表上肢模块的验证

Bravetti, Chiara; Coratti, Giorgia; Pera, Maria Carmela; Gadaleta, Giulio; Mongini, Tiziana; Coccia, Michela; Ferrero, Amanda; Costantini, Emanuele Maria; Longo, Antonella; Cumbo, Francesca; Catteruccia, Michela; D'Amico, Adele; Morando, Simone; Brolatti, Noemi; Bruno, Claudio; Verriello, Lorenzo; Pessa, Maria Elena; Antonaci, Laura; Faini, Claudia; Liguori, Rocco; Vacchiano, Veria; Ruggiero, Lucia; Zoppi, Dario; Russo, Anna; Torri, Francesca; Ricci, Giulia; Chiappini, Roberto; Siciliano, Gabriele; Trabacca, Antonio; Agosto, Caterina; Benedetti, Francesca; Pane, Marika; Mercuri, Eugenio

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy

意大利肌病学会对阿塔卢伦治疗无义突变杜氏肌营养不良症的意见

Bello, Luca; Riguzzi, Pietro; Albamonte, Emilio; Astrea, Guja; Battini, Roberta; Barp, Andrea; Berardinelli, Angela L; Bertini, Enrico S; Brolatti, Noemi; Bruno, Claudio; Corti, Stefania; D'Amico, Adele; D'Angelo, Maria Grazia; Dallavalle, Gianfranco; Liguori, Rocco; Maggi, Lorenzo; Magri, Francesca; Mancuso, Michelangelo; Masson, Riccardo; Mercuri, Eugenio; Minetti, Carlo; Messina, Sonia; Mongini, Tiziana; Musumeci, Olimpia; Nigro, Vincenzo; Pane, Marika; Panicucci, Chiara; Pedemonte, Marina; Pini, Antonella; Politano, Luisa; Previtali, Stefano; Ricci, Federica; Ricci, Giulia; Ruggiero, Lucia; Sansone, Valeria; Siciliano, Gabriele; Trabacca, Antonio; Trucco, Federica; Velardo, Daniele; Pegoraro, Elena; Comi, Giacomo P

ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report

COVID-19 感染后发现 ZASP/LDB3 相关非典型远端肌病伴轻微心脏功能障碍:简报

Gadaleta, Giulio; Pidello, Stefano; Urbano, Guido; Carli, Diana; Mongini, Tiziana

Twenty-five years of AIM: from the initiative of a small group of myologists to a successful Italian research institution. The story of the Italian Association of Myology

意大利肌病学会 (AIM) 二十五年:从一小群肌病学家的倡议到成功的意大利研究机构。意大利肌病学会的故事

Mongini, Tiziana E; Politano, Luisa

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

基因假基因倒位是缺失遗传力的一个隐蔽来源

Quartesan, Ilaria; Facchini, Stefano; Manini, Arianna; Schnekenberg, Ricardo Parolin; Pisciotta, Chiara; Magri, Stefania; Negri, Sara; Gaetano, Carlo; Rebelo, Adriana; Raposo, Jacquelyn Schatzman; Mazanec, Radim; Curro, Riccardo; Dominik, Natalia; Efthymiou, Stephanie; Laurà, Matilde; Grider, Tiffany; Feely, Shawna Me; Fridman, Vera; Bertini, Alessandro; Alves, Gustavo Maximiano; Ferullo, Lucia; Ghia, Arianna; Caccia, Claudio; Balistreri, Francesca; Saveri, Paola; Crivellari, Luca; Moroni, Isabella; Danti, Federica Rachele; Mongini, Tiziana; Taroni, Franco; Auer-Grumbach, Michaela; Bugiardini, Enrico; Sleigh, James N; Tucci, Arianna; Houlden, Henry; Laššuthová, Petra; Seeman, Pavel; Basile, Anna; Giorgio, Elisa; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M; Pareyson, Davide; Cortese, Andrea

Extracellular vesicles derived from antigen-presenting cells pulsed with foot and mouth virus vaccine-antigens act as carriers of viral proteins and stimulate B cell response

用口蹄疫病毒疫苗抗原脉冲的抗原呈递细胞衍生的细胞外囊泡充当病毒蛋白的载体并刺激 B 细胞反应

Florencia Menay, Federico Cocozza, Maria J Gravisaco, Analia Elisei, Javier Ignacio Re, Alejandra Ferella, Claudia Waldner, Claudia Mongini