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

CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models.

CACNA1A 功能丧失会影响人类 iPSC 衍生神经模型中的神经发生

Musante Ilaria, Cangelosi Davide, Muzzi Lorenzo, Jaudon Fanny, Di Duca Marco, Guerrisi Sara, Antonini Francesca, De Spelorzi Yeraldin Chiquinquira Castillo, Cingolani Lorenzo A, Zara Federico, Scudieri Paolo

Alternative splicing regulates PACC1 function and promotes acidosis-induced cytotoxicity.

选择性剪接调节 PACC1 功能并促进酸中毒诱导的细胞毒性。

Tamburro Serena, Gorrieri Giulia, Callegari Niccolò, Guida Floriana, Antonini Francesca, Musante Ilaria, Baldassari Simona, Zara Federico, Scudieri Paolo

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

基于表型的WOREE综合征诊断方法

Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele

Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders

脑类器官作为遗传性神经发育障碍的模型系统

Baldassari, Simona; Musante, Ilaria; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scudieri, Paolo

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

靶向选择性剪接作为治疗发作性共济失调2型的潜在疗法

Jaudon, Fanny; Baldassari, Simona; Musante, Ilaria; Thalhammer, Agnes; Zara, Federico; Cingolani, Lorenzo A

Intermolecular Interactions in the TMEM16A Dimer Controlling Channel Activity

TMEM16A二聚体中的分子间相互作用控制通道活性

Scudieri, Paolo; Musante, Ilaria; Gianotti, Ambra; Moran, Oscar; Galietta, Luis J V

Assessment of copy number variations in 120 patients with Poland syndrome

对120例波兰综合征患者的拷贝数变异进行评估

Vaccari, Carlotta Maria; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria Teresa; Romanini, Maria Victoria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria Francesca; Baban, Anwar; Calevo, Maria Grazia; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

波兰综合征同卵双胞胎中11q12.3染色体的新生缺失

Vaccari, Carlotta Maria; Romanini, Maria Victoria; Musante, Ilaria; Tassano, Elisa; Gimelli, Stefania; Divizia, Maria Teresa; Torre, Michele; Morovic, Carmen Gloria; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria