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

Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency

超越终点:恶二唑类TRIDs可恢复无义突变驱动的原发性免疫缺陷中的LRBA蛋白表达

Fiduccia, Ignazio; Vitale, Emanuele; Varrica, Riccardo; Ricci, Davide; Marino, Sefora; Zito, Antonino; Pace, Andrea; Colige, Alain; Moutschen, Michel; Borutzki, Yasmin; Bileck, Andrea; Meier-Menches, Samuel M; Lentini, Laura; Pibiri, Ivana

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder

长读长高保真基因组测序解析TANGO2缺陷症中逆转录转座子介导的缺失

Sabbagh, Quentin; Villa Tobón, Felipe; Kazemi, Zahra; Lentini, Laura; Dilenge, Marie-Emmanuelle; Buhas, Daniela; Pastinen, Tomi; Thiffault, Isabelle; Bernard, Geneviève

Exploring innovative approaches in cancer immunotherapy by exploiting the role of translational readthrough-inducing drugs

利用转化阅读诱导药物的作用,探索癌症免疫疗法的创新方法

Lentini, Laura; Pace, Andrea

A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again.

针对原发性免疫缺陷疾病的精准医疗方法:阿塔卢伦再次击中无义突变

Lentini Laura, Perriera Riccardo, Corrao Federica, Melfi Raffaella, Tutone Marco, Carollo Pietro S, Fiduccia Ignazio, Pace Andrea, Ricci Davide, Genovese Francesco, Colige Alain, Delvenne Philippe, Grimbacher Bodo, Moutschen Michel, Pibiri Ivana

Alternative polyadenylation and splicing regulation in refractory juvenile dermatomyositis: CELF2 at the crossroads

难治性幼年皮肌炎中的选择性多聚腺苷酸化和剪接调控:CELF2 处于十字路口

Varrica, Riccardo; Lentini, Laura

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative

在加拿大建立全国性白质营养不良研究和护理网络:CARELeuko计划

Chapleau, Alexandra; Le, Adam; Simo, Justin; Venkateswaran, Sunita; Lacaze-Masmonteil, Thierry; Piscopo, Valerio E C; Gauthier, Samuel; Villa Tobón, Felipe; Alam, Sabrina Shameen; Lentini, Laura; Brais, Bernard; Ernst, Carl; Mitchell, John J; Vinh, Donald C; Zhou, Yang; Kennedy, Timothy E; Goloff, Naomi; Riham, Badawy; Chapleau, Ron; Smith, Ben; Greger, Valerie; Della Rocca, Josée; Louis, Lynda-Marie; Dike, Ashley; McIntyre, Lindey L; McIntyre, David F; Tardif, Jérome; Lapointe, Émilie; Barnett, Jennifer; Loignon, Valérie; Bardai, Ghalib; Contant, Sophie; Durcan, Thomas M; La Piana, Roberta; Bernard, Geneviève

Advancing Therapeutic Strategies for Nonsense-Related Diseases: From Small Molecules to Nucleic Acid-Based Innovations

推进无义突变相关疾病的治疗策略:从小分子到核酸创新

Ricci, Davide; Cruciata, Ilenia; Fiduccia, Ignazio; Vitale, Emanuele; Corrao, Federica; Branchini, Alessio; Carollo, Pietro Salvatore; Pibiri, Ivana; Lentini, Laura

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview

罕见和超罕见人类疾病中的无义突变:概述

Vitale, Emanuele; Ricci, Davide; Corrao, Federica; Fiduccia, Ignazio; Cruciata, Ilenia; Carollo, Pietro Salvatore; Branchini, Alessio; Lentini, Laura; Pibiri, Ivana

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study

POLR3相关脑白质营养不良患儿父母的压力和生活质量:一项横断面试点研究

Lentini, Laura; Toutounchi, Helia; Chapleau, Alexandra; Le, Adam; Fournier, Simon; Emari, Fatemeh; Flamini, Robert; Rossi, Andrea; Gentile, Angela; Bertini, Enrico; Nicita, Francesco; Pohl, Daniela; Venkateswaran, Sunita; Keller, Stephanie; Rossignol, Elsa; Renaud, Deborah; Assis Pereira, Danilo De; Chen, Xiaoru; Vanderver, Adeline; Bernard, Geneviève

Promoting readthrough of nonsense mutations in CF mouse model: Biodistribution and efficacy of NV848 in rescuing CFTR protein expression

促进囊性纤维化小鼠模型中无义突变的通读:NV848在挽救CFTR蛋白表达中的生物分布和功效

Fiduccia, Ignazio; Corrao, Federica; Zizzo, Maria Grazia; Perriera, Riccardo; Genovese, Francesco; Vitale, Emanuele; Ricci, Davide; Melfi, Raffaella; Tutone, Marco; Pace, Andrea; Lentini, Laura; Pibiri, Ivana