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

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.

病例报告：一名男性患者偶然发现迟发性庞贝病，但无临床和器械检查证据表明其存在神经肌肉功能障碍

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1574381
Sciacco Monica, Lucchiari Sabrina, Bertolasi Letizia, Comi Giacomo Pietro, Corti Stefania, Ronchi Dario
神经科学
发表日期：2025
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Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy

强直性肌营养不良症：临床特征、分子机制、治疗和基因治疗的最新进展

期刊:Neurological Sciences
影响因子:2.4
doi:10.1007/s10072-024-07826-9
Rimoldi, Martina; Lucchiari, Sabrina; Pagliarani, Serena; Meola, Giovanni; Comi, Giacomo Pietro; Abati, Elena
强直性脊柱炎
基因治疗
发表日期：2025
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Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis

病例报告：二氢吡啶受体（CACNA1S）先天性肌病，一种伴有早期发作周期性麻痹的新型表型

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2024.1359479
Aburahma, Samah K; Rousan, Liqa A; Shboul, Mohammad; Biella, Fabio; Lucchiari, Sabrina; Comi, Giacomo Pietro; Meola, Giovanni; Pagliarani, Serena
信号转导
发表日期：2024
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Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature

新冠疫情封锁后恢复体育活动揭示了2型强直性肌营养不良症：病例讨论及文献综述

期刊:Acta Myologica
影响因子:
doi:10.36185/2532-1900-612
Lucchiari, Sabrina; Magri, Francesca; Rimoldi, Martina; Pagliarani, Serena; Corti, Stefania; Comi, Giacomo P; Sciacco, Monica
微生物学
新冠
强直性脊柱炎
发表日期：2024
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Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

病例报告：钠离子通道病和氯离子通道病共存：复杂的表型和具有挑战性的诊断

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2022.845383
Pagliarani, Serena; Meola, Giovanni; Filareti, Melania; Comi, Giacomo Pietro; Lucchiari, Sabrina
发表日期：2022
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Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na(v)1.4

钠通道肌强直是由Na(v)1.4结构域I的新突变引起的

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2020.00255
Pagliarani, Serena; Lucchiari, Sabrina; Scarlato, Marina; Redaelli, Elisa; Modoni, Anna; Magri, Francesca; Fossati, Barbara; Previtali, Stefano C; Sansone, Valeria A; Lecchi, Marzia; Lo Monaco, Mauro; Meola, Giovanni; Comi, Giacomo P
强直性脊柱炎
发表日期：2020
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Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice

通过构建和鉴定基因工程小鼠，阐明Agl在膀胱癌发生中的作用

期刊:Carcinogenesis
影响因子:2.9
doi:10.1093/carcin/bgy139
Sottnik, Joseph L; Mallaredy, Vandana; Chauca-Diaz, Ana; Ritterson Lew, Carolyn; Owens, Charles; Dancik, Garrett M; Pagliarani, Serena; Lucchiari, Sabrina; Moggio, Maurizio; Ripolone, Michela; Comi, Giacomo P; Frierson, Henry F; Clouthier, David; Theodorescu, Dan
肿瘤
肿瘤免疫
膀胱癌
发表日期：2019
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Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

无葡萄糖/高蛋白饮食可改善糖原贮积症III型小鼠的肝肿大和运动不耐受症状。

期刊:Biochimica et Biophysica Acta-Molecular Basis of Disease
影响因子:4.2
doi:10.1016/j.bbadis.2018.07.031
Pagliarani, Serena; Lucchiari, Sabrina; Ulzi, Gianna; Ripolone, Michela; Violano, Raffaella; Fortunato, Francesco; Bordoni, Andreina; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Comi, Giacomo P
发表日期：2018
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