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

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

在小鼠中模拟 POLG 突变揭示了 POLγÎ' 在调节表型严重程度中的关键作用

Corrà Samantha, Zuppardo Alessandro, Valenzuela Sebastian, Jenninger Louise, Cerutti Raffaele, Sillamaa Sirelin, Hoberg Emily, Johansson Katarina A S, Rovsnik Urska, Volta Sara, Silva-Pinheiro Pedro, Davis Hannah, Trifunovic Aleksandra, Minczuk Michal, Gustafsson Claes M, Suomalainen Anu, Zeviani Massimo, Macao Bertil, Zhu Xuefeng, Falkenberg Maria, Viscomi Carlo

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

Mitochondrial Neurodegeneration

线粒体神经退行性变

Zeviani, Massimo; Viscomi, Carlo

The relevance of migraine in the clinical spectrum of mitochondrial disorders

偏头痛在线粒体疾病临床谱中的相关性

Terrin, Alberto; Bello, Luca; Valentino, Maria Lucia; Caporali, Leonardo; Sorarù, Gianni; Carelli, Valerio; Maggioni, Ferdinando; Zeviani, Massimo; Pegoraro, Elena

Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'

更正“损害全酶稳定性的DNA聚合酶γ突变导致催化亚基耗竭”

Silva-Pinheiro, Pedro; Pardo-Hernández, Carlos; Reyes, Aurelio; Tilokani, Lisa; Mishra, Anup; Cerutti, Raffaele; Li, Shuaifeng; Rozsivalova, Dieu-Hien; Valenzuela, Sebastian; Dogan, Sukru A; Peter, Bradley; Fernández-Silva, Patricio; Trifunovic, Aleksandra; Prudent, Julien; Minczuk, Michal; Bindoff, Laurence; Macao, Bertil; Zeviani, Massimo; Falkenberg, Maria; Viscomi, Carlo

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

与LIG3基因双等位基因变异相关的肌病性线粒体DNA耗竭综合征

Invernizzi, Federica; Legati, Andrea; Nasca, Alessia; Lamantea, Eleonora; Garavaglia, Barbara; Gusic, Mirjana; Kopajtich, Robert; Prokisch, Holger; Zeviani, Massimo; Lamperti, Costanza; Ghezzi, Daniele

Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions

正常和疾病状态下线粒体的结构和生物能量学

Protasoni, Margherita; Zeviani, Massimo

Mitochondrial Retinopathies

线粒体视网膜病变

Zeviani, Massimo; Carelli, Valerio

A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy

线粒体ATP合酶亚基α的新生突变会导致新生儿患上一种危及生命的疾病,但这种疾病会在婴儿期痊愈。

Zeviani, Massimo

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

PITRM1在粒线粒体功能障碍和神经退行性疾病中的作用

Brunetti, Dario; Catania, Alessia; Viscomi, Carlo; Deleidi, Michela; Bindoff, Laurence A; Ghezzi, Daniele; Zeviani, Massimo