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

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

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26020846
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
心血管
心肌病
神经科学
DNM1L
发表日期：2025
文献求助 收藏

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。

期刊:
影响因子:
doi:10.1111/febs.70064
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
线粒体
发表日期：2025
文献求助 收藏

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

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1437959
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
OPA1
线粒体
神经科学
发表日期：2024
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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

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24032178
Magistrati, Martina; Gilea, Alexandru Ionut; Ceccatelli Berti, Camilla; Baruffini, Enrico; Dallabona, Cristina
Yeast
线粒体
发表日期：2023
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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。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109340
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
发表日期：2023
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Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex

在酿酒酵母同源基因SYM1中模拟的MPV17致病等位基因表明，它们无法参与高分子量复合物的形成。

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0205014
Gilberti, Micol; Baruffini, Enrico; Donnini, Claudia; Dallabona, Cristina
发表日期：2018
文献求助 收藏

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

线粒体肽酶 PITRM1 缺陷与 Aβ 淀粉样变性神经退行性疾病有关

期刊:EMBO Molecular Medicine
影响因子:8.3
doi:10.15252/emmm.201505894
Brunetti Dario, Torsvik Janniche, Dallabona Cristina, Teixeira Pedro, Sztromwasser Pawel, Fernandez-Vizarra Erika, Cerutti Raffaele, Reyes Aurelio, Preziuso Carmela, D'Amati Giulia, Baruffini Enrico, Goffrini Paola, Viscomi Carlo, Ferrero Ileana, Boman Helge, Telstad Wenche, Johansson Stefan, Glaser Elzbieta, Knappskog Per M, Zeviani Massimo, Bindoff Laurence A
神经科学
线粒体
发表日期：2016
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Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

DNM1L基因的双等位基因突变与缓慢进展的婴儿脑病相关。

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23033
Nasca, Alessia; Legati, Andrea; Baruffini, Enrico; Nolli, Cecilia; Moroni, Isabella; Ardissone, Anna; Goffrini, Paola; Ghezzi, Daniele
神经科学
DNM1L
发表日期：2016
文献求助 收藏

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

甲硫氨酰-tRNA合成酶的双等位基因突变导致留尼汪岛上流行的一种特定类型的肺泡蛋白沉积症。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.03.010
Hadchouel, Alice; Wieland, Thomas; Griese, Matthias; Baruffini, Enrico; Lorenz-Depiereux, Bettina; Enaud, Laurent; Graf, Elisabeth; Dubus, Jean Christophe; Halioui-Louhaichi, Sonia; Coulomb, Aurore; Delacourt, Christophe; Eckstein, Gertrud; Zarbock, Ralf; Schwarzmayr, Thomas; Cartault, François; Meitinger, Thomas; Lodi, Tiziana; de Blic, Jacques; Strom, Tim M
发表日期：2015
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DNA polymerase γ and disease: what we have learned from yeast

DNA聚合酶γ与疾病：我们从酵母中学到的

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2015.00106
Lodi, Tiziana; Dallabona, Cristina; Nolli, Cecilia; Goffrini, Paola; Donnini, Claudia; Baruffini, Enrico
发表日期：2015
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