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

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

病例报告:与早发性帕金森病相关的新型ATP13A2致病变异及简要综述

Affronte, Leonardo; Pini, Antonella; Pizzoli, Claudia; Coccia, Emanuele; Mazzone, Serena; Golemi, Arber; Giannotta, Melania; Cordelli, Duccio Maria; Carelli, Valerio; Vaisfeld, Alessandro; Palombo, Flavia

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

脱氧鸟苷激酶缺乏症:自然病程和肝移植结果

Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petkovic Ramadza, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina

In Vivo Inflammation Caused by Achromobacter spp. Cystic Fibrosis Clinical Isolates Exhibiting Different Pathogenic Characteristics

无色杆菌属引起的体内炎症。囊性纤维化临床分离株表现出不同的致病特征

Angela Sandri, Giulia Maria Saitta, Laura Veschetti, Federico Boschi, Rebeca Passarelli Mantovani, Maria Carelli, Paola Melotti, Caterina Signoretto, Marzia Boaretti, Giovanni Malerba, Maria M Lleò

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

帕金森病中的 TWNK:运动障碍和线粒体疾病中心视角研究

Percetti, Marco; Franco, Giulia; Monfrini, Edoardo; Caporali, Leonardo; Minardi, Raffaella; La Morgia, Chiara; Valentino, Maria Lucia; Liguori, Rocco; Palmieri, Ilaria; Ottaviani, Donatella; Vizziello, Maria; Ronchi, Dario; Di Berardino, Federica; Cocco, Antoniangela; Macao, Bertil; Falkenberg, Maria; Comi, Giacomo Pietro; Albanese, Alberto; Giometto, Bruno; Valente, Enza Maria; Carelli, Valerio; Di Fonzo, Alessio

Hemodynamic response to positive end-expiratory pressure and prone position in COVID-19 ARDS

COVID-19 ARDS 患者对呼气末正压和俯卧位的血流动力学反应

Dell'Anna, Antonio Maria; Carelli, Simone; Cicetti, Marta; Stella, Claudia; Bongiovanni, Filippo; Natalini, Daniele; Tanzarella, Eloisa Sofia; De Santis, Paolo; Bocci, Maria Grazia; De Pascale, Gennaro; Grieco, Domenico Luca; Antonelli, Massimo

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity

代谢组学特征表明,OPA1 变异体与其体外表型相关,并可预测临床严重程度。

Chao de la Barca, Juan Manuel; Fogazza, Mario; Rugolo, Michela; Chupin, Stéphanie; Del Dotto, Valentina; Ghelli, Anna Maria; Carelli, Valerio; Simard, Gilles; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Reynier, Pascal; Zanna, Claudia

From Neuronal Differentiation of iPSCs to 3D Neuro-Organoids: Modelling and Therapy of Neurodegenerative Diseases

从诱导多能干细胞的神经元分化到三维神经类器官:神经退行性疾病的建模与治疗

Bordoni, Matteo; Rey, Federica; Fantini, Valentina; Pansarasa, Orietta; Di Giulio, Anna Maria; Carelli, Stephana; Cereda, Cristina

Medicago truncatula CYP716A12 is a multifunctional oxidase involved in the biosynthesis of hemolytic saponins

蒺藜苜蓿 CYP716A12 是一种多功能氧化酶,参与溶血皂苷的生物合成

Maria Carelli, Elisa Biazzi, Francesco Panara, Aldo Tava, Laura Scaramelli, Andrea Porceddu, Neil Graham, Miriam Odoardi, Efisio Piano, Sergio Arcioni, Sean May, Carla Scotti, Ornella Calderini