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

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

从患有肌萎缩侧索硬化症且存在 FUS 或 ANXA11 相关基因突变的患者体内生成六种诱导性多能干细胞系

Erin C Hedges, Simon Topp, Christopher E Shaw, Agnes L Nishimura

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

非核剪接因子SFPQ调控正常运动发育所需的轴突转录本

Swapna Thomas-Jinu ,Patricia M Gordon ,Triona Fielding ,Richard Taylor ,Bradley N Smith ,Victoria Snowden ,Eric Blanc ,Caroline Vance ,Simon Topp ,Chun-Hao Wong ,Holger Bielen ,Kelly L Williams ,Emily P McCann ,Garth A Nicholson ,Alejandro Pan-Vazquez ,Archa H Fox ,Charles S Bond ,William S Talbot ,Ian P Blair ,Christopher E Shaw ,Corinne Houart

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

肌萎缩侧索硬化症和额颞叶痴呆症中的 CCNF 突变

Kelly L Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A Fifita, Sadaf T Warraich, Katharine Y Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S Leblond, Albert Lee, Stephanie L Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P Molloy, Marka van Blitterswij

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

C9orf72 mRNA 中含有六核苷酸重复序列的内含子的保留:对 ALS/FTD 发病机制的影响

Michael Niblock, Bradley N Smith, Youn-Bok Lee, Valentina Sardone, Simon Topp, Claire Troakes, Safa Al-Sarraj, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Christopher E Shaw, Jean-Marc Gallo

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

新的突变支持了 Profilin 1 在 ALS 发病机制中的作用

Bradley N Smith, Caroline Vance, Emma L Scotter, Claire Troakes, Chun Hao Wong, Simon Topp, Satomi Maekawa, Andrew King, Jacqueline C Mitchell, Karan Lund, Ammar Al-Chalabi, Nicola Ticozzi, Vincenzo Silani, Peter Sapp, Robert H Brown Jr, John E Landers, Safa Al-Sarraj, Christopher E Shaw