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

Nonmonotonic Composition Dependence of Viscosity upon Adding Single-Chain Nanoparticles to Entangled Polymers

向缠结聚合物中添加单链纳米粒子后,粘度的非单调组成依赖性

Pyromali, Christina; Patelis, Nikolaos; Cutrano, Marta; Gosika, Mounika; Glynos, Emmanouil; Moreno, Angel J; Sakellariou, Georgios; Smrek, Jan; Vlassopoulos, Dimitris

CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants

CRISPR 碱基编辑可创建具有高编辑效率的潜在 Charcot-Marie-Tooth 病模型:携带 SH3TC2 变体的人类诱导性多能干细胞

Camille Loret, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, Franck Sturtz, Frédéric Favreau, Béatrice Turcq, Anne-Sophie Lia

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy

首例在感觉性多发性神经病患者中发现的ATL3大片段缺失

Pyromali, Ioanna; Richard, Laurence; Derouault, Paco; Vallat, Jean-Michel; Ghorab, Karima; Magdelaine, Corinne; Sturtz, Franck; Favreau, Frédéric; Lia, Anne-Sophie

Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene

Amlexanox:在 hiPSC 衍生的神经元细胞(GDAP1 基因中存在无义突变)的 Charcot-Marie-Tooth 模型中,诱导通读和抑制无义介导的 mRNA 衰减

Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

从阴性诊断到阳性诊断:结构变异可能是您在隐性常染色体基因中寻找的第二个突变

Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

导致夏科-马里-图斯病的新结构变异:CovCopCan软件检测到的前两个KIF5A大片段缺失

Pyromali, Ioanna; Perani, Alexandre; Nizou, Angélique; Benslimane, Nesrine; Derouault, Paco; Bourthoumieu, Sylvie; Fradin, Mélanie; Sole, Guilhem; Duval, Fanny; Gomes, Constantin; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie

A mutation can hide another one: Think Structural Variants!

一种突变可能隐藏另一种突变:想想结构变异!

Miressi, Federica; Faye, Pierre-Antoine; Pyromali, Ioanna; Bourthoumieux, Sylvie; Derouault, Paco; Husson, Marie; Favreau, Frédéric; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie