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

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

A Reassessment of Sarcopenia from a Redox Perspective as a Basis for Preventive and Therapeutic Interventions

从氧化还原角度重新评估肌少症,以此为基础开展预防和治疗干预

Arcaro, Alessia; Lepore, Alessio; Cetrangolo, Giovanni Paolo; Paventi, Gianluca; Ames, Paul Richard Julian; Gentile, Fabrizio

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes

对未确诊神经发育障碍病例的重新分析:从 RNU4-2 变异到临床表型

Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

磷脂酰肌醇激酶 PIP5KIγ 中的新生错义变异是与改变的磷酸肌醇信号传导相关的神经发育综合征的根本原因

Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A High, Jiahai Shi; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Tore

Use of animal models to understand titin physiology and pathology

利用动物模型了解肌联蛋白的生理和病理

Marcello, Matteo; Cetrangolo, Viviana; Savarese, Marco; Udd, Bjarne

Publisher Correction: Conservative route to genome compaction in a miniature annelid

出版商更正:微型环节动物基因组压缩的保守途径

Martín-Durán, José M; Vellutini, Bruno C; Marlétaz, Ferdinand; Cetrangolo, Viviana; Cvetesic, Nevena; Thiel, Daniel; Henriet, Simon; Grau-Bové, Xavier; Carrillo-Baltodano, Allan M; Gu, Wenjia; Kerbl, Alexandra; Marquez, Yamile; Bekkouche, Nicolas; Chourrout, Daniel; Gómez-Skarmeta, Jose Luis; Irimia, Manuel; Lenhard, Boris; Worsaae, Katrine; Hejnol, Andreas

Conservative route to genome compaction in a miniature annelid

微型环节动物基因组压缩的保守途径

José M Martín-Durán, Bruno C Vellutini #, Ferdinand Marlétaz #, Viviana Cetrangolo, Nevena Cvetesic, Daniel Thiel, Simon Henriet, Xavier Grau-Bové, Allan M Carrillo-Baltodano, Wenjia Gu, Alexandra Kerbl, Yamile Marquez, Nicolas Bekkouche, Daniel Chourrout, Jose Luis Gómez-Skarmeta, Manuel Irimia, Bo

Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study.

探索基质金属蛋白酶作为散发性淋巴管肌瘤病和结节性硬化症生物标志物的作用一项初步研究

Terraneo Silvia, Lesma Elena, Ancona Silvia, Imeri Gianluca, Palumbo Giuseppina, Torre Olga, Giuliani Lisa, Centanni Stefano, Peron Angela, Tresoldi Silvia, Cetrangolo Paola, Di Marco Fabiano

Highly Sensitive Detection of Chemically Modified Thio-Organophosphates by an Enzymatic Biosensing Device: An Automated Robotic Approach

利用酶生物传感装置对化学修饰的硫代有机磷酸酯进行高灵敏度检测:一种自动化机器人方法

Cetrangolo, Giovanni Paolo; Rusko, Janis; Gori, Carla; Carullo, Paola; Manco, Giuseppe; Chino, Marco; Febbraio, Ferdinando

Lipid Peroxidation-Derived Aldehydes, 4-Hydroxynonenal and Malondialdehyde in Aging-Related Disorders

脂质过氧化衍生的醛类、4-羟基壬烯醛和丙二醛在衰老相关疾病中的作用

Barrera, Giuseppina; Pizzimenti, Stefania; Daga, Martina; Dianzani, Chiara; Arcaro, Alessia; Cetrangolo, Giovanni Paolo; Giordano, Giulio; Cucci, Marie Angele; Graf, Maria; Gentile, Fabrizio