Falsaperla相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

对与早期婴儿发育和癫痫性脑病相关的SCN2A新生混合变异进行功能表征。

期刊:Neurology-Genetics

影响因子:3.7

doi:10.1212/NXG.0000000000200344

Corradi Anna, Riva Antonella, Sterlini Bruno, Morinelli Lisastella, Ludovico Alessandra, Madia Francesca, Striano Pasquale, Albini Martina, Vitale Paola, Pusch Michael, Lombardo Giulia, Elia Maurizio, Chatron Nicolas, Lesca Gaetan, Zara Federico, Falsaperla Raffaele, Ferrera Loretta

发育与干细胞

发表日期：2026

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Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics(®) platform

利用靶向二代测序 (NGS) 技术诊断儿童线粒体疾病：基于 Blueprint Genetics® 平台的真实世界数据

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-026-04213-9

Sapuppo, Annamaria; Privitera, Grete Francesca; Sortino, Vincenzo; Pavone, Piero; Polizzi, Agata; Ruggieri, Martino; Falsaperla, Raffaele

发表日期：2026

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Ketogenic Strategies in Neonatal Hypoxic-Ischemic Encephalopathy-The Road to Opening Up: A Scoping Review

新生儿缺氧缺血性脑病中的生酮策略——走向开放之路：范围界定综述

期刊:Neurology International

doi:10.3390/neurolint18020024

Falsaperla, Raffaele; Sortino, Vincenzo; Malaventura, Cristina; Fanaro, Silvia; Ballardini, Elisa; Martina, Aloise; Sapuppo, Annamaria; Suppiej, Agnese

发表日期：2026

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AMPA Receptor Modulation Through Medium-Chain Triglycerides and Decanoic Acid Supports Nutritional Intervention in Pediatric Epilepsy

通过中链甘油三酯和癸酸调节AMPA受体，支持儿童癫痫的营养干预

期刊:Nutrients

doi:10.3390/nu17111805

Falsaperla, Raffaele; Sortino, Vincenzo; Soler, Miguel Angel; Spatuzza, Michela; Fortuna, Sara; Salpietro, Vincenzo

发表日期：2025

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Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature

母亲苯丙酮尿症与子代结局：一项回顾性研究及文献系统综述

期刊:Nutrients

doi:10.3390/nu17040678

Leone, Guido; Meli, Concetta; Falsaperla, Raffaele; Gullo, Federica; Licciardello, Laura; La Spina, Luisa; Messina, Marianna; Lo Bianco, Manuela; Sapuppo, Annamaria; Pappalardo, Maria Grazia; Iacobacci, Riccardo; Arena, Alessia; Vecchio, Michele; Ruggieri, Martino; Polizzi, Agata; Praticò, Andrea Domenico

发表日期：2025

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Microbiome and Pregnancy Dysbiosis: A Narrative Review on Offspring Health

微生物组与妊娠期菌群失调：关于后代健康的叙述性综述

期刊:Nutrients

doi:10.3390/nu17061033

Biagioli, Valentina; Matera, Mariarosaria; Ramenghi, Luca Antonio; Falsaperla, Raffaele; Striano, Pasquale

发表日期：2025

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Transarterial embolization for acute lower gastrointestinal bleeding: a retrospective bicentric study

经动脉栓塞治疗急性下消化道出血：一项回顾性双中心研究

期刊:Radiologia Medica

影响因子:4.8

doi:10.1007/s11547-025-02012-z

Tiralongo, Francesco; Perini, Daniele; Crimi, Luca; Taninokuchi Tomassoni, Makoto; Braccischi, Lorenzo; Castiglione, Davide Giuseppe; Modestino, Francesco; Vacirca, Francesco; Falsaperla, Daniele; Libra, Federica Maria Rosaria; Palmucci, Stefano; Foti, Pietro Valerio; Lionetti, Francesco; Mosconi, Cristina; Basile, Antonio

发表日期：2025

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Correction: Transarterial embolization for acute lower gastrointestinal bleeding: a retrospective bicentric study

更正：经动脉栓塞治疗急性下消化道出血：一项回顾性双中心研究

期刊:Radiologia Medica

影响因子:4.8

doi:10.1007/s11547-025-02024-9

Tiralongo, Francesco; Perini, Daniele; Crimi, Luca; Tomassoni, Makoto Taninokuchi; Braccischi, Lorenzo; Castiglione, Davide Giuseppe; Modestino, Francesco; Vacirca, Francesco; Falsaperla, Daniele; Libra, Federica Maria Rosaria; Palmucci, Stefano; Foti, Pietro Valerio; Lionetti, Francesco; Mosconi, Cristina; Basile, Antonio

发表日期：2025

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Inter-Reader Agreement in LR-TRA Application and NLR Association in HCC Patients Treated with Endovascular vs. Ablative Procedures

LR-TRA 应用及 NLR 相关性在接受血管内治疗与消融治疗的 HCC 患者中的读者间一致性

影响因子:4.4

doi:10.3390/cancers17030492

Castiglione, Davide Giuseppe; Porreca, Annamaria; Falsaperla, Daniele; Libra, Federica; David, Emanuele; Maiuzzo, Roberta; Castiglione, Mirko Domenico; Mosconi, Cristina; Palmucci, Stefano; Foti, Pietro Valerio; Basile, Antonio; Galia, Massimo

发表日期：2025

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A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

TUBB2A基因中的一个突变热点与异二聚体形成受损和严重的脑发育障碍有关

期刊:Frontiers in Cellular Neuroscience

doi:10.3389/fncel.2025.1664953

Di Pasquale, Gabriele; Colella, Jacopo; Di Cataldo, Carola P; Soler, Miguel A; Fortuna, Sara; Mizrahi-Powell, Emma; Nizon, Mathilde; Cognè, Benjamin; Turchetti, Valentina; Mangano, Giuseppe D; Comisi, Francesco F; Cecchetti, Corrado; Giliberti, Alessandra; Nardello, Rosaria; Pavone, Piero; Falsaperla, Raffaele; Di Rosa, Gabriella; Evrony, Gilad D; Delvecchio, Maurizio; Severino, Mariasavina; Accogli, Andrea; Vittori, Alessandro; Salpietro, Vincenzo

发育与干细胞

发表日期：2025

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