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

Validity of Bioelectrical Impedance Analysis for the Assessment of Body Composition in Patients With Systemic Sclerosis

生物电阻抗分析法在系统性硬化症患者身体成分评估中的有效性

期刊:Journal of Cachexia Sarcopenia and Muscle
影响因子:9.1
doi:10.1002/jcsm.70273
Dória, Lucas Denardi; do Espírito Santo, Rafaela Cavalheiro; Hax, Vanessa; Mallmann, André Luiz; Dos Santos, Leonardo Peterson; Pilotti, Stephanie; de Moraes, Daniel Nóbrega; Da Silva, Bruno Eduardo Lara; Lovison, Vinícius Hammel; Junior, Ronaldo Legati; Correia, Poliana Espíndola; Fighera, Tayane Muniz; Gerchman, Fernando; Spritzer, Poli Mara; Xavier, Ricardo Machado; da Silva Chakr, Rafael Mendonça
系统性硬化症
免疫/内分泌
发表日期：2026
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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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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases

新出现的变异、独特的表型和转录组特征：COASY 相关疾病的综合研究

期刊:Annals of Clinical and Translational Neurology
影响因子:4.4
doi:10.1002/acn3.52079
Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L Morrison, Patricia G Wheeler, Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Eulalia Turón-Viñas, Clement Prouteau, Magalie Barth, Susan J Hayflick, Daniele Ghezzi, Valeria Tiranti
信号转导
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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