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

Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons

评估源自人类运动神经元低甲基化DNA特征的肌萎缩侧索硬化症生物标志物

Calum Harvey ,Alicja Nowak ,Sai Zhang ,Tobias Moll ,Annika K Weimer ,Aina Mogas Barcons ,Cleide Dos Santos Souza ,Laura Ferraiuolo ,Kevin Kenna ,Noah Zaitlen ,Christa Caggiano ,Pamela J Shaw ,Michael P Snyder ,Jonathan Mill ,Eilis Hannon ,Johnathan Cooper-Knock

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

利用大规模基因组数据,对C9orf72相关ALS/FTD药物进行无机制的重新定位

Sara Saez-Atienzar ,Cleide Dos Santos Souza ,Ruth Chia ,Selina N Beal ,Ileana Lorenzini ,Ruili Huang ,Jennifer Levy ,Camelia Burciu ,Jinhui Ding ,J Raphael Gibbs ,Ashley Jones ,Ramita Dewan ,Viviana Pensato ,Silvia Peverelli ,Lucia Corrado ,Joke J F A van Vugt ,Wouter van Rheenen ,Ceren Tunca ,Elif Bayraktar ,Menghang Xia ,Aleksey Shatunov ,Cinzia Tiloca ,Nicola Ticozzi ,Federico Verde ,Letizia Mazzini ,Kevin Kenna ,Ahmad Al Khleifat ,Sarah Opie-Martin ,Flavia Raggi ,Massimiliano Filosto ,Stefano Cotti Piccinelli ,Alessandro Padovani ,Stella Gagliardi ,Maurizio Inghilleri ,Alessandra Ferlini ,Rosario Vasta ,Andrea Calvo ,Cristina Moglia ,Antonio Canosa ,Umberto Manera ,Maurizio Grassano ,Jessica Mandrioli ,Gabriele Mora ,Christian Lunetta ,Raffaella Tanel ,Francesca Trojsi ,Patrizio Cardinali ,Salvatore Gallone ,Maura Brunetti ,Daniela Galimberti ,Maria Serpente ,Chiara Fenoglio ,Elio Scarpini ,Giacomo P Comi ,Stefania Corti ,Roberto Del Bo ,Mauro Ceroni ,Giuseppe Lauria Pinter ,Franco Taroni ,Eleonora Dalla Bella ,Enrica Bersano ,Charles J Curtis ,Sang Hyuck Lee ,Raymond Chung ,Hamel Patel ,Karen E Morrison ,Johnathan Cooper-Knock ,Pamela J Shaw ,Gerome Breen ,Richard J B Dobson ,Clifton L Dalgard ,Ammar Al-Chalabi ,Leonard H van den Berg ,Russell McLaughlin ,Orla Hardiman ,Cristina Cereda ,Gianni Sorarù ,Sandra D'Alfonso ,Siddharthan Chandran ,Suvankar Pal ,Antonia Ratti ,Cinzia Gellera ,Kory Johnson ,Tara Doucet-O'Hare ,Nicholas Pasternack ,Tongguang Wang ,Avindra Nath ,Gabriele Siciliano ,Vincenzo Silani ,Ayşe Nazlı Başak ,Jan H Veldink ,William Camu ,Jonathan D Glass ,John E Landers ,Adriano Chiò ,Rita Sattler ,Christopher E Shaw ,Laura Ferraiuolo ,Isabella Fogh ,Bryan J Traynor

C9ORF72 patient-derived endothelial cells drive blood-brain barrier disruption and contribute to neurotoxicity

C9ORF72 患者来源的内皮细胞导致血脑屏障破坏并导致神经毒性

Ana Aragón-González, Allan C Shaw, Jannigje R Kok, Florence S Roussel, Cleide Dos Santos Souza, Sarah M Granger, Tatyana Vetter, Yolanda de Diego, Kathrin C Meyer, Selina N Beal, Pamela J Shaw, Laura Ferraiuolo0

Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS

人类运动神经元中罕见非编码遗传变异的深度学习模型将 CCDC146 定义为 ALS 的治疗靶点

Sai Zhang, Tobias Moll, Jasper Rubin-Sigler, Sharon Tu, Shuya Li, Enming Yuan, Menghui Liu, Afreen Butt, Calum Harvey, Sarah Gornall, Elham Alhalthli, Allan Shaw, Cleide Dos Santos Souza, Laura Ferraiuolo, Eran Hornstein, Tatyana Shelkovnikova, Charlotte H van Dijk, Ilia S Timpanaro, Kevin P Kenna, 

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

全基因组鉴定肌萎缩侧索硬化症的遗传基础

Sai Zhang ,Johnathan Cooper-Knock ,Annika K Weimer ,Minyi Shi ,Tobias Moll ,Jack N G Marshall ,Calum Harvey ,Helia Ghahremani Nezhad ,John Franklin ,Cleide Dos Santos Souza ,Ke Ning ,Cheng Wang ,Jingjing Li ,Allison A Dilliott ,Sali Farhan ,Eran Elhaik ,Iris Pasniceanu ,Matthew R Livesey ,Chen Eitan ,Eran Hornstein ,Kevin P Kenna ,Laura Ferraiuolo ,Pamela J Shaw ,Michael P Snyder

Defective repair of topoisomerase I induced chromosomal damage in Huntington's disease

拓扑异构酶 I 修复缺陷导致亨廷顿氏病染色体损伤

Nelma M Palminha, Cleide Dos Santos Souza, Jon Griffin, Chunyan Liao, Laura Ferraiuolo, Sherif F El-Khamisy

Towards 3D Bioprinted Spinal Cord Organoids

3D 生物打印脊髓类器官

Yilin Han, Marianne King, Evgenii Tikhomirov, Povilas Barasa, Cleide Dos Santos Souza, Jonas Lindh, Daiva Baltriukiene, Laura Ferraiuolo, Mimoun Azzouz, Maurizio R Gullo, Elena N Kozlova

SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis

SRSF1依赖性抑制C9ORF72重复RNA核输出:肌萎缩侧索硬化症神经保护的全基因组机制

Lydia M Castelli # ,Luisa Cutillo # ,Cleide Dos Santos Souza ,Alvaro Sanchez-Martinez ,Ilaria Granata ,Ya-Hui Lin ,Monika A Myszczynska ,Paul R Heath ,Matthew R Livesey ,Ke Ning ,Mimoun Azzouz ,Pamela J Shaw ,Mario R Guarracino ,Alexander J Whitworth ,Laura Ferraiuolo ,Marta Milo ,Guillaume M Hautbergue

Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease

直接转化的星形胶质细胞保留了供体成纤维细胞的衰老特征,并阐明了星形胶质细胞对人类中枢神经系统健康和疾病的贡献

Noemi Gatto, Cleide Dos Santos Souza, Allan C Shaw, Simon M Bell, Monika A Myszczynska, Samantha Powers, Kathrin Meyer, Lydia M Castelli, Evangelia Karyka, Heather Mortiboys, Mimoun Azzouz, Guillaume M Hautbergue, Nóra M Márkus, Pamela J Shaw, Laura Ferraiuolo

Amyloid binding and beyond: a new approach for Alzheimer's disease drug discovery targeting Aβo-PrP(C) binding and downstream pathways

淀粉样蛋白结合及其他:一种针对Aβo-PrP(C)结合及其下游通路的阿尔茨海默病药物研发新方法

Grayson, James D; Baumgartner, Matthew P; Santos Souza, Cleide Dos; Dawes, Samuel J; El Idrissi, Imane Ghafir; Louth, Jennifer C; Stimpson, Sasha; Mead, Emma; Dunbar, Charlotte; Wolak, Joanna; Sharman, Gary; Evans, David; Zhuravleva, Anastasia; Roldan, Margarita Segovia; Colabufo, Nicola Antonio; Ning, Ke; Garwood, Claire; Thomas, James A; Partridge, Benjamin M; de la Vega de Leon, Antonio; Gillet, Valerie J; Rauter, Amélia P; Chen, Beining