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

Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids

靶向反义寡核苷酸治疗可挽救脊髓性肌萎缩症类器官的发育异常

Irene Faravelli #,Paola Rinchetti #,Monica Tambalo #,Illia Simutin,Lisa Mapelli,Sara Mancinelli,Matteo Miotto,Mafalda Rizzuti,Andrea D'Angelo,Chiara Cordiglieri,Giulia Forotti,Clelia Peano,Paolo Kunderfranco,Luca Calandriello,Giacomo P Comi,Elvezia Paraboschi,Eleonora Pali,Francesca Beatrice,Egidio D'Angelo,Serge Przedborski,Monica Nizzardo,Simona Lodato,Stefania Corti

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变异与常染色体隐性遗传性脑钙化有关

Monfrini, Edoardo; Rinchetti, Paola; Anheim, Mathieu; Klingseisen, Anna; Lagha-Boukbiza, Ouhaid; Cen, Zhidong; Yang, Dehao; Chen, Xinhui; Maroofian, Reza; Houlden, Henry; Cappelletti, Gioia; Richard, Anne-Claire; Quenez, Olivier; Toro, Camilo; Frucht, Steven J; Lotti, Francesco; Luo, Wei; Hunt, David; Nicolas, Gael; Riboldi, Giulietta M

Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration

胆碱能神经元中 Mettl3 的缺失会导致成人发病的神经肌肉退行性变。

Georgia Dermentzaki ,Mattia Furlan ,Iris Tanaka ,Tommaso Leonardi ,Paola Rinchetti ,Patricia M S Passos ,Alliny Bastos ,Yuna M Ayala ,Jacob H Hanna ,Serge Przedborski ,Dario Bonanomi ,Mattia Pelizzola ,Francesco Lotti

Brain Calcifications: Genetic, Molecular, and Clinical Aspects

脑钙化:遗传、分子和临床方面

Monfrini, Edoardo; Arienti, Federica; Rinchetti, Paola; Lotti, Francesco; Riboldi, Giulietta M

The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration

SMN复合物位于RNA代谢和神经退行性疾病的十字路口

Faravelli, Irene; Riboldi, Giulietta M; Rinchetti, Paola; Lotti, Francesco

SMN post-translational modifications in spinal muscular atrophy

脊髓性肌萎缩症中SMN的翻译后修饰

Riboldi, Giulietta M; Faravelli, Irene; Rinchetti, Paola; Lotti, Francesco

Retromer dysfunction in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中的逆转录酶功能障碍

Eduardo J Pérez-Torres, Irina Utkina-Sosunova, Vartika Mishra, Peter Barbuti, Mariangels De Planell-Saguer, Georgia Dermentzaki, Heather Geiger, Anna O Basile, Nicolas Robine, Delphine Fagegaltier, Kristin A Politi, Paola Rinchetti, Vernice Jackson-Lewis; NYGC ALS Consortium; Matthew Harms, Hemali P

SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation

SETX(senataxin)是一种在AOA2和ALS4中发生突变的解旋酶,它在自噬调控中发挥作用。

Patricia Richard ,Shuang Feng, Yueh-Lin Tsai ,Wencheng Li ,Paola Rinchetti ,Ubayed Muhith ,Juan Irizarry-Cole ,Katharine Stolz ,Lionel A Sanz ,Stella Hartono ,Mainul Hoque ,Saba Tadesse ,Hervé Seitz ,Francesco Lotti ,Michio Hirano ,Frédéric Chédin ,Bin Tian ,James L Manley

Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow

利用多模态整合生物信息学工作流程,系统阐明肌萎缩侧索硬化症模型中神经元-星形胶质细胞的相互作用

Vartika Mishra ,Diane B Re ,Virginia Le Verche ,Mariano J Alvarez ,Alessandro Vasciaveo ,Arnaud Jacquier ,Paschalis-Tomas Doulias ,Todd M Greco ,Monica Nizzardo ,Dimitra Papadimitriou ,Tetsuya Nagata ,Paola Rinchetti ,Eduardo J Perez-Torres ,Kristin A Politi ,Burcin Ikiz ,Kevin Clare ,Manuel E Than ,Stefania Corti ,Harry Ischiropoulos ,Francesco Lotti ,Andrea Califano ,Serge Przedborski

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

基因疗法可挽救脊髓性肌萎缩症伴呼吸窘迫1型(SMARD1)小鼠模型的疾病表型

Nizzardo, Monica; Simone, Chiara; Rizzo, Federica; Salani, Sabrina; Dametti, Sara; Rinchetti, Paola; Del Bo, Roberto; Foust, Kevin; Kaspar, Brian K; Bresolin, Nereo; Comi, Giacomo P; Corti, Stefania