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

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy

PLIN4基因的遗传变异：一种新的序列重复导致自噬性空泡肌病

期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2025.101849
Carnazzi, Alessandra; Iannibelli, Eliana; Gibertini, Sara; Nicolini De Gaetano, Lucia; Riolo, Giorgia; Salerno, Franco; Legati, Andrea; Ghezzi, Daniele; Maggi, Lorenzo; Ruggieri, Alessandra
自噬
发表日期：2026
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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
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A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy

一对双胞胎出现DNM1L基因新生突变，症状各异，包括截瘫和视神经病变

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom15091230
Nasca, Alessia; Catania, Alessia; Legati, Andrea; Izzo, Rossella; D'onofrio, Carola; Ciavattini, Teresa; Lamantea, Eleonora; Lamperti, Costanza; Ghezzi, Daniele
DNM1L
发表日期：2025
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WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report

WDR45相关性脑病，表现为类似Leigh综合征的复合体I缺乏症：病例报告

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01745-1
Ferrera, Giulia; Derderian, Kevork; Izzo, Rossella; Gnutti, Barbara; Legati, Andrea; Zorzi, Giovanna; Lamantea, Eleonora; Iuso, Arcangela; Ardissone, Anna
神经科学
发表日期：2025
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Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA

用于基于NGS的线粒体DNA单核苷酸变异和大规模重排鉴定的生物信息学工具

期刊:
影响因子:
doi:10.3390/biotech14010009
Barresi, Marco; Dal Santo, Giulia; Izzo, Rossella; Zauli, Andrea; Lamantea, Eleonora; Caporali, Leonardo; Ghezzi, Daniele; Legati, Andrea
线粒体
发表日期：2025
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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

一名患有脑病、心肌病和致命性非癫痫性阵发性难治性呕吐的患者发现新生DNM1L突变

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms25147782
Berti, Beatrice; Verrigni, Daniela; Nasca, Alessia; Di Nottia, Michela; Leone, Daniela; Torraco, Alessandra; Rizza, Teresa; Bellacchio, Emanuele; Legati, Andrea; Palermo, Concetta; Marchet, Silvia; Lamperti, Costanza; Novelli, Antonio; Mercuri, Eugenio Maria; Bertini, Enrico Silvio; Pane, Marika; Ghezzi, Daniele; Carrozzo, Rosalba
心肌病
癫痫
心血管
神经科学
DNM1L
发表日期：2024
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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

二代和三代测序数据中种系变异和DNA甲基化分析的最佳实践

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-024-00684-8
Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppedè, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario
表观遗传
DNA甲基化
发表日期：2024
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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

一种与两名互不相关的意大利患者复杂性共济失调相关的新型MT-ATP6变异：病例报告和功能研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03212-y
Sala, Daniele; Marchet, Silvia; Nanetti, Lorenzo; Legati, Andrea; Mariotti, Caterina; Lamantea, Eleonora; Ghezzi, Daniele; Catania, Alessia; Lamperti, Costanza
发表日期：2024
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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

对一组疑似患有遗传性肌病和/或高肌酸激酶血症的意大利患者进行基于 NGS 的基因分析。

期刊:Genes
影响因子:2.8
doi:10.3390/genes14071393
Invernizzi Federica, Izzo Rossella, Colangelo Isabel, Legati Andrea, Zanetti Nadia, Garavaglia Barbara, Lamantea Eleonora, Peverelli Lorenzo, Ardissone Anna, Moroni Isabella, Maggi Lorenzo, Bonanno Silvia, Fiori Laura, Velardo Daniele, Magri Francesca, Comi Giacomo P, Ronchi Dario, Ghezzi Daniele, Lamperti Costanza
信号转导
发表日期：2023
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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

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awab238
Invernizzi, Federica; Legati, Andrea; Nasca, Alessia; Lamantea, Eleonora; Garavaglia, Barbara; Gusic, Mirjana; Kopajtich, Robert; Prokisch, Holger; Zeviani, Massimo; Lamperti, Costanza; Ghezzi, Daniele
线粒体
发表日期：2021
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