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

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Impact of Maternal Lifetime Stress on Offspring Biological Aging: A Systematic Review and Meta-Analysis of Observational Studies

母亲终生压力对后代生物衰老的影响:观察性研究的系统评价和荟萃分析

Muñoz Venegas, María Loreto; Quiccione, Miriam Shasa; Sharma, Sukshma; Gianfagna, Francesco; Bracone, Francesca; De Domenico, Paola; Tirozzi, Alfonsina; Cerletti, Chiara; Donati, Maria Benedetta; de Gaetano, Giovanni; Iacoviello, Licia; Gialluisi, Alessandro

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

Prominent role of PM10 in the link between air pollution and incident Parkinson's Disease

PM10在空气污染与帕金森病发病率之间的关联中起着重要作用

Gialluisi, Alessandro; Costanzo, Simona; De Bartolo, Maria Ilenia; Veronesi, Giovanni; Renzi, Matteo; Cembalo, Assuntina; Tirozzi, Alfonsina; Falciglia, Stefania; Ricci, Moreno; Bonanni, Americo; Martone, Francesco; Zazzaro, Gaetano; Pepe, Antonietta; Belvisi, Daniele; Ferrario, Marco Mario; Gianfagna, Francesco; Cerletti, Chiara; Donati, Maria Benedetta; Massari, Stefania; Berardelli, Alfredo; de Gaetano, Giovanni; Iacoviello, Licia

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature

一例复发性面瘫患儿SOST基因新型纯合突变的早期诊断与随访:病例报告及文献综述

Acquaviva, Fabio; Bruno, Giorgia; Palladino, Federica; Rubino, Alfonso; Russo, Carmela; Pandolfi, Maria; Covelli, Eugenio Maria; Evangelista, Eloisa; De Falco, Luigia; Tirozzi, Alfonsina; De Brasi, Daniele; Varone, Antonio

Does polypharmacy affect epigenetic aging in older people? Evidence from a longitudinal epigenome-wide methylation study

多重用药是否会影响老年人的表观遗传衰老?一项纵向全表观基因组甲基化研究提供的证据

Gialluisi, Alessandro; Tirozzi, Alfonsina; Costanzo, Simona; Licastro, Danilo; Di Castelnuovo, Augusto; Quiccione, Miriam Shasa; Falciglia, Stefania; Degasperi, Margherita; Panzera, Teresa; Magnacca, Sara; Persichillo, Mariarosaria; Noro, Fabrizia; Cerletti, Chiara; Donati, Maria Benedetta; de Gaetano, Giovanni; Iacoviello, Licia

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene

一名携带GRIA3基因新型p.Thr657Ala变异的女性出现非惊厥性癫痫持续状态和轻度神经发育表型

Rubino, Alfonso; Bruno, Giorgia; Errichiello, Gabriella; Acquaviva, Fabio; De Brasi, Daniele; Tirozzi, Alfonsina; Santangelo, Pia; Russo, Carmela; Varone, Antonio; Zito Marinosci, Geremia; Bernardo, Pia

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

体细胞突变嵌合体引起的罕见遗传性出血性毛细血管扩张症:病例报告及文献综述

Mirra, Virginia; Rosa, Margherita; Fontanella, Cristina; Mancuso, Martina; Antonelli, Fabio; Castaldo, Alice; Allegorico, Annalisa; Russo, Maria Giovanna; Giordano, Mario; Tirozzi, Alfonsina; Siani, Paolo; De Brasi, Daniele

Are Methylation Patterns in the KALRN Gene Associated with Cognitive and Depressive Symptoms? Findings from the Moli-sani Cohort

KALRN基因甲基化模式与认知和抑郁症状相关吗?来自Moli-sani队列的研究结果

Quiccione, Miriam Shasa; Tirozzi, Alfonsina; Cassioli, Giulia; Morelli, Martina; Costanzo, Simona; Pepe, Antonietta; Bracone, Francesca; Magnacca, Sara; Cerletti, Chiara; Licastro, Danilo; Di Castelnuovo, Augusto; Donati, Maria Benedetta; de Gaetano, Giovanni; Iacoviello, Licia; Gialluisi, Alessandro

Avian responses to climate extremes: insights into abundance curves and species sensitivity using the UK Breeding Bird Survey

鸟类对极端气候的响应:利用英国繁殖鸟类调查深入了解种群数量曲线和物种敏感性

Tirozzi, Pietro; Massimino, Dario; Bani, Luciano