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

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5

持续的 OMA1 介导的综合应激反应对 5 型痉挛性共济失调有益

Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D'Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay

降低外周血单核细胞中的 sacsin 水平作为 Charlevoix-Saguenay 痉挛性共济失调的诊断工具

Daniele De Ritis, Laura Ferrè, Jonathan De Winter, Clémence Tremblay-Desbiens, Mathieu Blais, Maria Teresa Bassi, Nicolas Dupré, Jonathan Baets, Massimo Filippi, Francesca Maltecca

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model

恢复浦肯野细胞中的钙稳态可阻止ARSACS小鼠模型中的神经退行性变和神经炎症。

Andrea Del Bondio ,Fabiana Longo ,Daniele De Ritis ,Erica Spirito ,Paola Podini ,Bernard Brais ,Angela Bachi ,Angelo Quattrini ,Francesca Maltecca

Pancytopenia in a Case of Aplastic Anaemia/Paroxysmal Nocturnal Haemoglobinuria Unmasked by SARS-CoV-2 Infection: A Case Report

一例由SARS-CoV-2感染诱发的再生障碍性贫血/阵发性睡眠性血红蛋白尿合并全血细胞减少症的病例报告

Iannuzzi, Arcangelo; Parrella, Antonio; De Ritis, Francesca; Cammarota, Anna; Berloco, Lucia; Paudice, Francesca; D'Angelo, Giovanni; Aliberti, Emilio; Iannuzzo, Gabriella

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

ARSACS 患者 Sacsin 周转率评估:对分子诊断和发病机制的意义

Fabiana Longo, Daniele De Ritis, Annarita Miluzio, Davide Fraticelli, Jonathan Baets, Marina Scarlato, Filippo M Santorelli, Stefano Biffo, Francesca Maltecca

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation

由于新的 DRP1 突变导致严重轴突性神经病中高灌注线粒体的周转受损

Fabiana Longo, Sara Benedetti, Alberto A Zambon, Maria Grazia Natali Sora, Chiara Di Resta, Daniele De Ritis, Angelo Quattrini, Francesca Maltecca, Maurizio Ferrari, Stefano Carlo Previtali

Semiquantitative RT-PCR analysis to assess the expression levels of multiple transcripts from the same sample

采用半定量RT-PCR分析评估同一样本中多种转录本的表达水平

Marone, Maria; Mozzetti, Simona; De Ritis, Daniela; Pierelli, Luca; Scambia, Giovanni

Clinical features of cystic fibrosis patients with rare genotypes

罕见基因型囊性纤维化患者的临床特征

Castaldo, G; Rippa, E; Raia, V; Salvatore, D; Massa, C; de Ritis, G; Salvatore, F