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

C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia.

C9orf72 聚(甘氨酸-丙氨酸)敲入小鼠表现出轻微的旋转杆和蛋白质组变化,与肌萎缩侧索硬化症/额颞叶痴呆症一致。

Milioto Carmelo, Carcolé Mireia, Zanovello Matteo, Ahmed Mhoriam, Nirujogi Raja S, Biggs Daniel, Roberts Martha J, Schweers Kyra, Cammack Alexander J, Marchi Paolo M, Katona Eszter, Glaria Idoia, Santos Almudena, Devoy Anny, Fratta Pietro, Alessi Dario R, Davies Ben, Greensmith Linda, Fisher Elizabeth M C, Isaacs Adrian M

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

由C9orf72基因六核苷酸重复序列扩增引起的肌萎缩侧索硬化症:从遗传学到治疗学

Mizielinska, Sarah; Hautbergue, Guillaume M; Gendron, Tania F; van Blitterswijk, Marka; Hardiman, Orla; Ravits, John; Isaacs, Adrian M; Rademakers, Rosa

Author Correction: Neuronal polyunsaturated fatty acids are protective in ALS/FTD

作者更正:神经元多不饱和脂肪酸对肌萎缩侧索硬化症/额颞叶痴呆症具有保护作用。

Giblin, Ashling; Cammack, Alexander J; Blomberg, Niek; Anoar, Sharifah; Mikheenko, Alla; Carcolé, Mireia; Atilano, Magda L; Hull, Alex; Shen, Dunxin; Wei, Xiaoya; Coneys, Rachel; Zhou, Lele; Mohammed, Yassene; Olivier-Jimenez, Damien; Wang, Lian Y; Kinghorn, Kerri J; Niccoli, Teresa; Coyne, Alyssa N; van der Kant, Rik; Lashley, Tammaryn; Giera, Martin; Partridge, Linda; Isaacs, Adrian M

Neuronal polyunsaturated fatty acids are protective in ALS/FTD.

神经元多不饱和脂肪酸对ALS/FTD具有保护作用

Giblin Ashling, Cammack Alexander J, Blomberg Niek, Anoar Sharifah, Mikheenko Alla, Carcolé Mireia, Atilano Magda L, Hull Alex, Shen Dunxin, Wei Xiaoya, Coneys Rachel, Zhou Lele, Mohammed Yassene, Olivier-Jimenez Damien, Wang Lian Y, Kinghorn Kerri J, Niccoli Teresa, Coyne Alyssa N, van der Kant Rik, Lashley Tammaryn, Giera Martin, Partridge Linda, Isaacs Adrian M

Multi-modal comparative phenotyping of knock-in mouse models of frontotemporal dementia/amyotrophic lateral sclerosis

对额颞叶痴呆/肌萎缩侧索硬化症敲入小鼠模型进行多模态比较表型分析

Boyanova, Sevda; Banks, Gareth; Lipina, Tatiana V; Bains, Rasneer Sonia; Forrest, Hamish; Stewart, Michelle; Carcolé, Mireia; Milioto, Carmelo; Isaacs, Adrian M; Wells, Sara E; Wiseman, Frances K

Generation of C9orf72 repeat knock-in iPSC lines for modelling ALS and FTD

构建C9orf72重复基因敲入的iPSC细胞系用于ALS和FTD模型研究

Coneys, Rachel; Cammack, Alexander J; Nair, Remya R; Thompson, David; Mechtersheimer, Jonas; Carcolé, Mireia; Gupta, Yashica; Rech, Gabriel E; Flower, Michael; O'Brien, Niamh; Ruepp, Marc-David; Mizielinska, Sarah; Ducotterd, Fiona; Tabrizi, Sarah J; Fisher, Elizabeth M C; Cunningham, Thomas J; Ward, Michael; Skarnes, William C; Isaacs, Adrian M

U7 small nuclear RNA splice-switching therapeutics for STMN2 and UNC13A in Amyotrophic Lateral Sclerosis.

U7 小核 RNA 剪接转换疗法用于治疗肌萎缩侧索硬化症中的 STMN2 和 UNC13A。

Mehta Puja R, Solomon Tomas, Pickles Sarah, Harley Peter, Barioglio Michela, Schweingruber Christoph, Marrero-Gagliardi Alessandro, Gao Yujing, Mattedi Francesca, Barattucci Simone, Lin Lilian Tsai-Wei, Ryadnov Eugeni, Zanovello Matteo, Cammack Alexander J, Isaacs Adrian M, Burrone Juan, Shaw Christopher E, Keuss Matthew J, Petrucelli Leonard, Fratta Pietro, Ruepp Marc-David

Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons

iPSC运动和感觉神经元中C9ORF72 HRE引起的细胞和轴突运输表型

Scaber, Jakub; Thomas-Wright, Iona; Clark, Alex J; Xu, Yinyan; Vahsen, Björn F; Carcolé, Mireia; Dafinca, Ruxandra; Farrimond, Lucy; Isaacs, Adrian M; Bennett, David L; Talbot, Kevin

Opinion: more mouse models and more translation needed for ALS

观点:ALS需要更多小鼠模型和更多翻译。

Fisher, Elizabeth M C; Greensmith, Linda; Malaspina, Andrea; Fratta, Pietro; Hanna, Michael G; Schiavo, Giampietro; Isaacs, Adrian M; Orrell, Richard W; Cunningham, Thomas J; Arozena, Abraham Acevedo

Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

开发一种灵敏且可用于临床试验的聚(GP)脑脊液生物标志物检测方法,用于检测C9orf72相关的额颞叶痴呆和肌萎缩侧索硬化症

Wilson, Katherine M; Katona, Eszter; Glaria, Idoia; Carcolé, Mireia; Swift, Imogen J; Sogorb-Esteve, Aitana; Heller, Carolin; Bouzigues, Arabella; Heslegrave, Amanda J; Keshavan, Ashvini; Knowles, Kathryn; Patil, Saurabh; Mohapatra, Susovan; Liu, Yuanjing; Goyal, Jaya; Sanchez-Valle, Raquel; Laforce, Robert Jr; Synofzik, Matthis; Rowe, James B; Finger, Elizabeth; Vandenberghe, Rik; Butler, Christopher R; Gerhard, Alexander; Van Swieten, John C; Seelaar, Harro; Borroni, Barbara; Galimberti, Daniela; de Mendonça, Alexandre; Masellis, Mario; Tartaglia, M Carmela; Otto, Markus; Graff, Caroline; Ducharme, Simon; Schott, Jonathan M; Malaspina, Andrea; Zetterberg, Henrik; Boyanapalli, Ramakrishna; Rohrer, Jonathan D; Isaacs, Adrian M