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

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

CAPN6基因变异与神经发育障碍之间可能存在关联

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms27031140
Calì, Francesco; Treccarichi, Simone; Vinci, Mirella; Avola, Emanuela; Musumeci, Antonino; Ragalmuto, Alda; Costanza, Carola; Greco, Donatella; Brancato, Desiree; Federico, Concetta; Città, Santina; Di Blasi, Francesco Domenico; Saccone, Salvatore; Scudieri, Paolo; Zara, Federico; Elia, Maurizio
发育与干细胞
神经科学
发表日期：2026
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Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders

加强对PSMC5作为与神经发育障碍相关的潜在基因的作用

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26136386
Vinci, Mirella; Musumeci, Antonino; Papa, Carla; Ragalmuto, Alda; Saccone, Salvatore; Federico, Concetta; Greco, Donatella; Greco, Vittoria; Calì, Francesco; Treccarichi, Simone
SMC5
发育与干细胞
神经科学
发表日期：2025
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Dissecting the Genetic Contribution of Tooth Agenesis

剖析牙齿缺失的遗传因素

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms262110485
Fallea, Antonio; Vinci, Mirella; L'Episcopo, Simona; Bartolone, Massimiliano; Musumeci, Antonino; Ragalmuto, Alda; Treccarichi, Simone; Calì, Francesco
发表日期：2025
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Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis

ABCF2基因在阴部神经病变和间质性膀胱炎中的潜在作用

期刊:Genes
影响因子:2.8
doi:10.3390/genes16030281
Musumeci, Antonino; Vinci, Mirella; Treccarichi, Simone; Ragalmuto, Alda; Bruno, Giuseppe; Tinniriello, Giordana; Farina, Jessica; Federico, Concetta; Saccone, Salvatore; Calì, Francesco; Porru, Daniele
ABCF2
发表日期：2025
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Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

新一代测序和肌电图揭示了P2RX6基因与肌病的关系

期刊:Current Issues in Molecular Biology
影响因子:3
doi:10.3390/cimb46020073
Vinci, Mirella; Vitello, Girolamo Aurelio; Greco, Donatella; Treccarichi, Simone; Ragalmuto, Alda; Musumeci, Antonino; Fallea, Antonio; Federico, Concetta; Calì, Francesco; Saccone, Salvatore; Elia, Maurizio
发表日期：2024
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Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders

SOX12基因新发变异对一名患有全身性癫痫、智力障碍和儿童期情绪行为障碍患者的影响

期刊:Current Issues in Molecular Biology
影响因子:3
doi:10.3390/cimb46070383
Treccarichi, Simone; Calì, Francesco; Vinci, Mirella; Ragalmuto, Alda; Musumeci, Antonino; Federico, Concetta; Costanza, Carola; Bottitta, Maria; Greco, Donatella; Saccone, Salvatore; Elia, Maurizio
癫痫
SOX
神经科学
发表日期：2024
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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

在一名安格曼综合征患者中，通过多重连接依赖性探针扩增检测到E3A泛素蛋白连接酶基因的新型缺失。

期刊:Experimental and Molecular Medicine
影响因子:12.9
doi:10.3858/emm.2010.42.12.087
Cali, Francesco; Ragalmuto, Alda; Chiavetta, Valeria; Calabrese, Giuseppe; Fichera, Marco; Vinci, Mirella; Ruggeri, Giuseppa; Schinocca, Pietro; Sturnio, Maurizio; Romano, Salvatore; Romano, Valentino; Elia, Maurizio
发表日期：2010
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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

意大利高苯丙氨酸血症患者苯丙氨酸羟化酶基因外显子缺失

期刊:Experimental and Molecular Medicine
影响因子:12.9
doi:10.3858/emm.2010.42.2.009
Cali, Francesco; Ruggeri, Giuseppa; Vinci, Mirella; Meli, Concetta; Carducci, Carla; Leuzzi, Vincenzo; Pozzessere, Simone; Schinocca, Pietro; Ragalmuto, Alda; Chiavetta, Valeria; Micciche, Salvatore; Romano, Valentinox
发表日期：2010
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