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

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

脊髓性肌萎缩症1型患儿的表达性语言和社交沟通能力

Brusa, Chiara; Buchignani, Bianca; Cutri, Chiara; Coratti, Giorgia; Clark, Elaine; Johnson, Emily; Cornell, Nikki; Scoto, Mariacristina; Pane, Marika; Mercuri, Eugenio Maria; Muntoni, Francesco; Baranello, Giovanni

Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical Reports

Marinesco-Sjögren综合征的肌肉影像学方法:系统性综述和两份新的临床报告

Buchignani, Bianca; Vega, Giada; Pasquariello, Rosa; Marinella, Gemma; Tosetti, Michela; Astrea, Guja; Battini, Roberta

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease

FDX2基因中的一种新突变为MEOAL线粒体神经肌肉疾病的发病机制提供了新的见解

Doni, Davide; Grifagni, Deborah; Cavion, Federica; Buchignani, Bianca; Battini, Roberta; Baschiera, Elisa; Desbats, Maria Andrea; Pasquariello, Rosa; Covello, Giuseppina; De Pascale, Eva; Boarolo, Alice; Cestonaro, Ilaria; Badocco, Denis; Pastore, Paolo; Sartori, Geppo; Stehling, Oliver; Lill, Roland; Santorelli, Filippo M; Salviati, Leonardo; Ciofi-Baffoni, Simone; Costantini, Paola

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI

Myo-Guide:一款基于机器学习的神经肌肉疾病磁共振成像诊断网络应用程序

Verdu-Diaz, Jose; Bolano-Díaz, Carla; Gonzalez-Chamorro, Alejandro; Fitzsimmons, Sam; Warman-Chardon, Jodi; Kocak, Goknur Selen; Mucida-Alvim, Debora; Smith, Ian C; Vissing, John; Poulsen, Nanna Scharff; Luo, Sushan; Domínguez-González, Cristina; Bermejo-Guerrero, Laura; Gomez-Andres, David; Sotoca, Javier; Pichiecchio, Anna; Nicolosi, Silvia; Monforte, Mauro; Brogna, Claudia; Mercuri, Eugenio; Bevilacqua, Jorge Alfredo; Díaz-Jara, Jorge; Pizarro-Galleguillos, Benjamín; Krkoska, Peter; Alonso-Pérez, Jorge; Olivé, Montse; Niks, Erik H; Kan, Hermien E; Lilleker, James; Roberts, Mark; Buchignani, Bianca; Shin, Jinhong; Esselin, Florence; Le Bars, Emmanuelle; Childs, Anne Marie; Malfatti, Edoardo; Sarkozy, Anna; Perry, Luke; Sudhakar, Sniya; Zanoteli, Edmar; Di Pace, Filipe Tupinamba; Matthews, Emma; Attarian, Shahram; Bendahan, David; Garibaldi, Matteo; Fionda, Laura; Alonso-Jiménez, Alicia; Carlier, Robert; Okhovat, Ali Asghar; Nafissi, Shahriar; Nalini, Atchayaram; Vengalil, Seena; Hollingsworth, Kieren; Marini-Bettolo, Chiara; Straub, Volker; Tasca, Giorgio; Bacardit, Jaume; Díaz-Manera, Jordi

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease

遗传性和非遗传性帕金森病中的线粒体功能障碍

Lucchesi, Martina; Biso, Letizia; Bonaso, Marco; Longoni, Biancamaria; Buchignani, Bianca; Battini, Roberta; Santorelli, Filippo Maria; Doccini, Stefano; Scarselli, Marco

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy

I型和无症状脊髓性肌萎缩症患儿的神经发育和精神障碍

Buchignani, Bianca; Coratti, Giorgia; Cutrì, Chiara; Scattoni, Maria Luisa; Pane, Marika; Palermo, Concetta; Leone, Daniela; De Sanctis, Roberto; Stanca, Giulia; Antonaci, Laura; Cutrona, Costanza; Pera, Maria Carmela; Brogna, Claudia; Cristofani, Paola; Fulceri, Francesca; Baranello, Giovanni; Mercuri, Eugenio

Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mapping

病例报告:利用7T磁共振成像和定量磁敏感成像技术探索放化疗引起的脑白质病变

Celardo, Gaetano; Scaffei, Elena; Buchignani, Bianca; Donatelli, Graziella; Costagli, Mauro; Cristofani, Paola; Canapicchi, Raffaello; Pasquariello, Rosa; Tosetti, Michela; Battini, Roberta; Biagi, Laura

KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report

KLHL40相关肌病:系统性综述及通过新病例报告对随访生物标志物的深入探讨

Buchignani, Bianca; Marinella, Gemma; Pasquariello, Rosa; Sgherri, Giada; Frosini, Silvia; Santorelli, Filippo Maria; Orsini, Alessandro; Battini, Roberta; Astrea, Guja

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study

接受疾病修饰疗法治疗的I型脊髓性肌萎缩症患者管饲预后因素:一项队列研究

Pane, Marika; Stanca, Giulia; Coratti, Giorgia; D' Amico, Adele; Sansone, Valeria Ada; Berti, Beatrice; Fanelli, Lavinia; Albamonte, Emilio; Ausili Cefaro, Carolina; Cerchiari, Antonella; Catteruccia, Michela; De Sanctis, Roberto; Leone, Daniela; Palermo, Concetta; Buchignani, Bianca; Onesimo, Roberta; Kuczynska, Eliza Maria; Tosi, Michele; Pera, Maria Carmela; Bravetti, Chiara; Tiziano, Francesco Danilo; Bertini, Enrico; Mercuri, Eugenio

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

一项关于杜氏肌营养不良症患者智力功能随年龄增长的纵向随访研究:它真的稳定吗?

Chieffo, Daniela P R; Moriconi, Federica; Pane, Marika; Lucibello, Simona; Ferraroli, Elisabetta; Norcia, Giulia; Ricci, Martina; Capasso, Anna; Cicala, Gianpaolo; Buchignani, Bianca; Coratti, Giorgia; Cutrona, Costanza; Pelizzari, Monia; Brogna, Claudia; Hendriksen, Jos G M; Muntoni, Francesco; Mercuri, Eugenio