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

Longitudinal extensive anti-AMPA-GluR3-related transverse myelitis and favorable therapeutic response: A case report and review of literature

纵向广泛性抗AMPA-GluR3相关横贯性脊髓炎及良好的治疗反应:病例报告及文献复习

Cucuzza, Maria Elena; Pavone, Piero; Garozzo, Maria T; Finocchiaro, Maria C; Greco, Filippo; Smilari, Pierluigi; Di Nora, Alessandra; Ruggieri, Martino; Di Stefano, Vita A

Anti-RBD Antibody Levels and IFN-γ-Specific T Cell Response Are Associated with a More Rapid Swab Reversion in Patients with Multiple Sclerosis after the Booster Dose of COVID-19 Vaccination

抗RBD抗体水平和IFN-γ特异性T细胞反应与多发性硬化症患者接种COVID-19疫苗加强剂后更快的拭子检测结果逆转相关

Aiello, Alessandra; Ruggieri, Serena; Navarra, Assunta; Tortorella, Carla; Vanini, Valentina; Haggiag, Shalom; Prosperini, Luca; Cuzzi, Gilda; Salmi, Andrea; Quartuccio, Maria Esmeralda; Altera, Anna Maria Gerarda; Meschi, Silvia; Matusali, Giulia; Vita, Serena; Galgani, Simonetta; Maggi, Fabrizio; Nicastri, Emanuele; Gasperini, Claudio; Goletti, Delia

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

显性 LMAN2L 突变导致智力障碍和缓解性癫痫

Reem A Alkhater, Peixiang Wang, Alessandra Ruggieri, Lori Israelian, Susan Walker, Stephen W Scherer, Mary Lou Smith, Berge A Minassian

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

解读肌肉疾病患者的肌联蛋白基因变异

Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, San

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

DNAJB6 G/F 结构域的完全丧失和新的错义突变导致远端发病的 DNAJB6 肌病

Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, Simona Saredi, Chiara Terracciano, Carlo Antozzi, Maria Rosaria D Apice, Federica Sangiuolo, Giuseppe Novelli, Christian R Marshall, Stephen W Scherer, Lucia Morandi, Luca Federici, Roberto Massa, Marina

Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease

在缺乏马林的拉福拉病中,拉福拉素和拉福拉素与糖原的结合增加是拉福拉体形成的基础

Erica Tiberia, Julie Turnbull, Tony Wang, Alessandra Ruggieri, Xiao-Chu Zhao, Nela Pencea, Johan Israelian, Yin Wang, Cameron A Ackerley, Peixiang Wang, Yan Liu, Berge A Minassian