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

MRI-based spatio-temporal atlas of ganglionic eminence

基于磁共振成像的神经节隆起时空图谱

Ciceri, Tommaso; Righini, Andrea; Squarcina, Letizia; Ferro, Adele; Pini, Cecilia; Marano, Alessandra; Tombola, Valentina; Scacchetti, Chiara; Persico, Nicola; Boito, Simona; Cetin, Irene; Arrigoni, Filippo; Parazzini, Cecilia; Bertoldo, Alessandra; Conte, Giorgio; Triulzi, Fabio Maria; Brambilla, Paolo; Peruzzo, Denis

Fetal brain MRI atlases and datasets: A review

胎儿脑部MRI图谱和数据集:综述

Ciceri, Tommaso; Casartelli, Luca; Montano, Florian; Conte, Stefania; Squarcina, Letizia; Bertoldo, Alessandra; Agarwal, Nivedita; Brambilla, Paolo; Peruzzo, Denis

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions

戈谢病以外的葡萄糖脑苷脂酶活性缺乏:PSAP 和 LIMP-2 功能障碍

Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, Natascha Bergamin, Andrea Bordugo, Annalisa Sechi, Maurizio Scarpa, Jessica Biasizzo, Fabiana Colucci, Andrea Dardis

Geometric Reliability of Super-Resolution Reconstructed Images from Clinical Fetal MRI in the Second Trimester

妊娠中期临床胎儿磁共振成像超分辨率重建图像的几何可靠性

Ciceri, Tommaso; Squarcina, Letizia; Pigoni, Alessandro; Ferro, Adele; Montano, Florian; Bertoldo, Alessandra; Persico, Nicola; Boito, Simona; Triulzi, Fabio Maria; Conte, Giorgio; Brambilla, Paolo; Peruzzo, Denis

Correction to: Geometric Reliability of Super-Resolution Reconstructed Images from Clinical Fetal MRI in the Second Trimester

更正:妊娠中期临床胎儿磁共振成像超分辨率重建图像的几何可靠性

Ciceri, Tommaso; Squarcina, Letizia; Pigoni, Alessandro; Ferro, Adele; Montano, Florian; Bertoldo, Alessandra; Persico, Nicola; Boito, Simona; Triulzi, Fabio Maria; Conte, Giorgio; Brambilla, Paolo; Peruzzo, Denis

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

使用临床外显子组测序作为一级检测,准确进行戈谢病的分子诊断

Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Paolo Peruzzo, Maurizio Scarpa, Giovanni Ciana, Andrea Dardis

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

意大利尼曼-匹克 C 型疾病的分子遗传学:105 名患者的最新情况和 18 种 NPC1 新变异的描述

Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara

CRISPR/Cas9 Editing for Gaucher Disease Modelling

利用 CRISPR/Cas9 编辑戈谢病模型

Eleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, Emilio Vaena, Paula Rozenfeld, Andrea Dardis

Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

去铁胺甲磺酸盐可改善晚发型 PD 患者成纤维细胞中常见 c.-32-13T>G 等位基因的剪接和 GAA 活性

Emanuele Buratti, Paolo Peruzzo, Luca Braga, Irene Zanin, Cristiana Stuani, Elisa Goina, Maurizio Romano, Mauro Giacca, Andrea Dardis

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

热休克蛋白放大器arimoclomol改善葡萄糖脑苷脂酶的折叠、成熟和溶酶体活性

Cathrine K Fog, Paola Zago, Erika Malini, Lukasz M Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj H T Petersen, Bruno Bembi, Johannes F M G Aerts, Andrea Dardis, Thomas Kirkegaard