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

Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects

儿童期起病癫痫-运动障碍综合征的遗传复杂性：来自97例受试者队列研究的启示

期刊:Epilepsia
影响因子:6.6
doi:10.1111/epi.18669
Caputo, Davide; Solazzi, Roberta; Castellotti, Barbara; Panteghini, Celeste; Sciacca, Francesca Luisa; Visani, Elisa; Freri, Elena; Ragona, Francesca; Canafoglia, Laura; Zibordi, Federica; Zorzi, Giovanna; Gandelli, Shari; Gellera, Cinzia; Franceschetti, Silvana; Nardocci, Nardo; Granata, Tiziana
癫痫
神经科学
发表日期：2026
文献求助 收藏

Selective Silencing of TDP-43 P. G376D Mutation Reverses Key Amyotrophic Lateral Sclerosis-Related Cellular Deficits

选择性沉默TDP-43 P.G376D突变可逆转肌萎缩侧索硬化症相关的关键细胞缺陷

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom16030393
Romano, Roberta; Ruotolo, Giorgia; Perrone, Francesco; Tomaselli, Silvia; Mazzoni, Martina; Spataro, Rossella; Conforti, Francesca Luisa; Rosati, Jessica; Bucci, Cecilia
细胞生物学
发表日期：2026
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A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary

VPS13A 疾病（舞蹈病-棘红细胞增多症）中一种新的 VPS13A 缺失：病例报告及文献简述

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms262311521
Perrone, Benedetta; Mosca, Viviana; Pecoraro, Martina; Ruffo, Paola; Giudice, Elda Del; Leon, Alberta; Maino, Martina; La Bella, Vincenzo; Spataro, Rossella; Conforti, Francesca Luisa
细胞生物学
红细胞
发表日期：2025
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The Other Side of the Same Coin: Beyond the Coding Region in Amyotrophic Lateral Sclerosis

同一枚硬币的另一面：肌萎缩侧索硬化症编码区之外的层面

期刊:Pharmaceuticals
影响因子:4.8
doi:10.3390/ph18101573
Ruffo, Paola; Perrone, Benedetta; Perrone, Francesco; De Amicis, Francesca; Iuliano, Rodolfo; Bucci, Cecilia; Messina, Angela; Conforti, Francesca Luisa
发表日期：2025
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Advancements in genetic research and RNA therapy strategies for amyotrophic lateral sclerosis (ALS): current progress and future prospects

肌萎缩侧索硬化症（ALS）基因研究和RNA治疗策略的进展：当前进展和未来展望

期刊:Journal of Neurology
影响因子:4.6
doi:10.1007/s00415-025-12975-8
Ruffo, Paola; Traynor, Bryan J; Conforti, Francesca Luisa
ALS
发表日期：2025
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A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders

一名NXF5基因仅外显子1-内含子1发生小片段缺失的患者：可能提示该基因在神经发育障碍中发挥作用

期刊:Genes
影响因子:2.8
doi:10.3390/genes16050571
Tapia, Yessica Yesenia; Ciaccio, Claudia; Bacınoğlu, Merve Begüm; D'Arrigo, Stefano; Sciacca, Francesca Luisa
发育与干细胞
神经科学
发表日期：2025
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Lysosomal Dysfunction in Amyotrophic Lateral Sclerosis: A Familial Case Linked to the p.G376D TARDBP Mutation

肌萎缩侧索硬化症中的溶酶体功能障碍：与 p.G376D TARDBP 突变相关的家族病例

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms26072867
Roberta Romano ,Victoria Stefania Del Fiore ,Giorgia Ruotolo ,Martina Mazzoni ,Jessica Rosati ,Francesca Luisa Conforti ,Cecilia Bucci
溶酶体功能
DBP
发表日期：2025
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Unveiling the regulatory potential of the non-coding genome: Insights from the human genome project to precision medicine

揭示非编码基因组的调控潜力：从人类基因组计划到精准医疗的启示

期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2025.101652
Ruffo, Paola; Traynor, Bryan J; Conforti, Francesca Luisa
信号转导
发表日期：2025
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Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis

散发性肌萎缩侧索硬化症病例中相关风险基因拷贝数变异负荷增加

期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-024-05335-8
Guarnaccia, Maria; Morello, Giovanna; La Cognata, Valentina; La Bella, Vincenzo; Conforti, Francesca Luisa; Cavallaro, Sebastiano
发表日期：2024
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Molecular findings and virological assessment of bladder papillomavirus infection in cattle

牛膀胱乳头瘤病毒感染的分子学发现和病毒学评估

期刊:Veterinary Quarterly
影响因子:5.2
doi:10.1080/01652176.2024.2387072
De Falco, Francesca; Cutarelli, Anna; Fedele, Francesca Luisa; Catoi, Cornel; Roperto, Sante
炎症/感染
微生物学
发表日期：2024
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