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

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients

PLIN4相关肌病:大型患者队列的临床、组织学和影像学数据

Maggi, Lorenzo; Gibertini, Sara; Iannibelli, Eliana; Gallone, Annamaria; Bonanno, Silvia; Cazzato, Daniele; Gerevini, Simonetta; Moscatelli, Marco; Blasevich, Flavia; Riolo, Giorgia; Mantegazza, Renato; Ruggieri, Alessandra

VCP-related myopathy: a case series and a review of literature

VCP相关肌病:病例系列及文献综述

Iannibelli, Eliana; Gibertini, Sara; Cheli, Marta; Blasevich, Flavia; Cavaliere, Andrea; Riolo, Giorgia; Ruggieri, Alessandra; Maggi, Lorenzo

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

利用多组学方法阐明一种编码99聚体重复序列扩增的骨骼肌疾病

Ruggieri, Alessandra; Naumenko, Sergey; Smith, Martin A; Iannibelli, Eliana; Blasevich, Flavia; Bragato, Cinzia; Gibertini, Sara; Barton, Kirston; Vorgerd, Matthias; Marcus, Katrin; Wang, Peixiang; Maggi, Lorenzo; Mantegazza, Renato; Dowling, James J; Kley, Rudolf A; Mora, Marina; Minassian, Berge A

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

对LGMD1F散发性TNPO3突变患者进行长期随访以及进一步的分子和组织病理学研究

Gibertini, Sara; Ruggieri, Alessandra; Saredi, Simona; Salerno, Franco; Blasevich, Flavia; Napoli, Laura; Moggio, Maurizio; Nigro, Vincenzo; Morandi, Lucia; Maggi, Lorenzo; Mora, Marina

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

纯肌病伴线粒体增大,与MTND2基因的新突变相关

Zanolini, Alice; Potic, Ana; Carrara, Franco; Lamantea, Eleonora; Diodato, Daria; Blasevich, Flavia; Marchet, Silvia; Mora, Marina; Pallotti, Francesco; Morandi, Lucia; Zeviani, Massimo; Lamperti, Costanza

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

斑马鱼作为研究动力蛋白2相关疾病的模型

Bragato Cinzia, Gaudenzi Germano, Blasevich Flavia, Pavesi Giulio, Maggi Lorenzo, Giunta Michele, Cotelli Franco, Mora Marina

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

一名患有轻度肌病和极轻度先天性脂肪营养不良的儿童被发现携带新的PTRF基因突变

Ardissone, Anna; Bragato, Cinzia; Caffi, Lorella; Blasevich, Flavia; Maestrini, Sabrina; Bianchi, Maria Luisa; Morandi, Lucia; Moroni, Isabella; Mora, Marina