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

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene

ARPE-19-A 稳定细胞系表达 NPC1 基因中意义不明的变异体

Monteiro, Beatriz; Peixoto, Maria Inês; Ortigoza-Escobar, Juan Darío; Alves, Mariana; Sandiares, Ana Catarina; Gonçalves, Mariana; Moreira, Luciana Vaz; Coutinho, Maria Francisca; Matos, Liliana; Alves, Sandra; Encarnação, Marisa

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

从 II 型粘脂病中建立表达该疾病关键标志物的人类 iPSC 系

Moutinho Maria Eduarda, Gonçalves Mariana, Duarte Ana Joana, Encarnação Marisa, Coutinho Maria Francisca, Matos Liliana, Santos Juliana Inês, Ribeiro Diogo, Amaral Olga, Gaspar Paulo, Alves Sandra, Moreira Luciana Vaz

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

利用多能干细胞和多向干细胞构建神经系统疾病模型:理解和治疗粘多糖贮积症的关键一步

Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, Sandra; Coutinho, Maria Francisca

Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example

剪接调控作为溶酶体贮积症的一种有前景的治疗策略:以粘多糖贮积症为例

Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria João; Coutinho, Maria Francisca; Alves, Sandra

How to Design U1 snRNA Molecules for Splicing Rescue

如何设计用于剪接拯救的U1 snRNA分子

Matos, Liliana; Santos, Juliana I; Coutinho, Mª Francisca; Alves, Sandra

Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach

溶酶体贮积症相关神经病变:以稳定核酸脂质颗粒(SNALP)包裹的siRNA靶向大脑的治疗方法

Coutinho, Maria Francisca; Santos, Juliana Inês; S Mendonça, Liliana; Matos, Liliana; Prata, Maria João; S Jurado, Amália; Pedroso de Lima, Maria C; Alves, Sandra

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

粘多糖贮积症 (MPS) VI 型潜在新型剪接突变的分子特征——其致病性的间接原理验证

Coutinho, Maria Francisca; Encarnação, Marisa; Matos, Liliana; Silva, Lisbeth; Ribeiro, Diogo; Santos, Juliana Inês; Prata, Maria João; Vilarinho, Laura; Alves, Sandra

Follicular Fluid redox involvement for ovarian follicle growth

卵泡液氧化还原反应参与卵巢卵泡生长

Freitas, Cláudia; Neto, Ana Catarina; Matos, Liliana; Silva, Elisabete; Ribeiro, Ângela; Silva-Carvalho, João Luís; Almeida, Henrique

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders

基因底物减少疗法:溶酶体贮积症的一种有前景的治疗方法

Coutinho, Maria Francisca; Santos, Juliana Inês; Matos, Liliana; Alves, Sandra

Reference ranges for uterine artery pulsatility index during the menstrual cycle: a cross-sectional study

月经周期中子宫动脉搏动指数的参考范围:一项横断面研究

Guedes-Martins, Luís; Gaio, Rita; Saraiva, Joaquim; Cerdeira, Sofia; Matos, Liliana; Silva, Elisabete; Macedo, Filipe; Almeida, Henrique