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

Clinical significance of field safety notices concerning implantable pacemakers and defibrillators

植入式心脏起搏器和除颤器现场安全通知的临床意义

Ren, Yijun; Baruffini, Alessandra; Biolo, Sofia; Corti, Rita; Nielsen, Jens Cosedis; Fraser, Alan G; Caiani, Enrico G

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review

DNM1L致病性新发变异与致命性脑心肌病相关——病例报告及文献综述

Magistrati, Martina; Zupin, Luisa; Lamantea, Eleonora; Baruffini, Enrico; Ghezzi, Daniele; Legati, Andrea; Celsi, Fulvio; Murru, Flora Maria; Capaci, Valeria; Pinamonti, Maurizio; Bussani, Rossana; Carrozzi, Marco; Dallabona, Cristina; Zeviani, Massimo; Bonati, Maria Teresa

Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant

由新型双等位基因CC趋化因子受体2型变异引起的多囊性间质性肺病

Moritz Herkner ,Christina Rapp ,Simon Y Graeber ,Charlotte Marx ,Carlotta Rambuscheck ,Simone Reu-Hofer ,Nagehan Emiralioglu ,Nural Kiper ,Alexandru I Gilea ,Ilenia Notaroberto ,Enrico Baruffini ,Bettina Temmesfeld-Wollbrück ,Christoph Klein ,Han Wen ,Mirjam Stahl ,Matthias Griese ,Florian Gothe

A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerases

空间位阻机制阻止了诱变性dATP掺入线粒体DNA聚合酶中8-氧代脱氧鸟苷的对面。

Baruch-Torres, Noe; Trasviña-Arenas, Carlos H; Gilea, Alexandru Ionut; Dissanayake, Upeksha C; Molina-Jiménez, Missael; García-Medel, Paola L; Díaz-Quezada, Corina; Lodi, Tiziana; Cisneros, G Andrés; Baruffini, Enrico; Brieba, Luis G

Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment

斑马鱼 polg2 基因敲除重现人类 POLG 疾病;对药物治疗的意义

Raquel Brañas Casas, Alessandro Zuppardo, Giovanni Risato, Alberto Dinarello, Rudy Celeghin, Camilla Fontana, Eleonora Grelloni, Alexandru Ionut Gilea, Carlo Viscomi, Andrea Rasola, Luisa Dalla Valle, Tiziana Lodi, Enrico Baruffini, Nicola Facchinello, Francesco Argenton, Natascia Tiso

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

由OPA1基因新生突变引起的严重线粒体脑肌病

Di Nottia, Michela; Rizza, Teresa; Baruffini, Enrico; Nesti, Claudia; Torraco, Alessandra; Diodato, Daria; Martinelli, Diego; Dal Canto, Flavio; Gilea, Alexandru Ionut; Zoccola, Martina; Siri, Barbara; Dionisi-Vici, Carlo; Bertini, Enrico; Santorelli, Filippo Maria; Goffrini, Paola; Carrozzo, Rosalba

Development and validation of the Italian digit-in-noise test

意大利数字噪声测试的开发与验证

Viola, Pasquale; Astorina, Alessia; Mancuso, Antonio; Presti, Giorgio; Scarpa, Alfonso; Baruffini, Carlo; Chiarella, Giuseppe

Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models

线粒体RNA修饰酶基因突变引起的线粒体RNA修饰酶病:分子机制和酵母病模型

Magistrati, Martina; Gilea, Alexandru Ionut; Ceccatelli Berti, Camilla; Baruffini, Enrico; Dallabona, Cristina

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

隐性MECR致病变异会导致类似LHON的视神经病变。

Fiorini, Claudio; Degiorgi, Andrea; Cascavilla, Maria Lucia; Tropeano, Concetta Valentina; La Morgia, Chiara; Battista, Marco; Ormanbekova, Danara; Palombo, Flavia; Carbonelli, Michele; Bandello, Francesco; Carelli, Valerio; Maresca, Alessandra; Barboni, Piero; Baruffini, Enrico; Caporali, Leonardo

Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

药物滴定试验:如何使用酿酒酵母快速识别线粒体疾病的潜在治疗化合物

Martina Magistrati, Alexandru Ionut Gilea, Maria Carla Gerra, Enrico Baruffini, Cristina Dallabona