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

C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD

C9orf72 相关二肽重复扩增扰乱内质网-高尔基囊泡运输,在 ALS/FTD 中诱导高尔基体碎裂和内质网应激

Jessica Sultana, Audrey M G Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Marta Vidal, Cyril Jones Jagaraj, Kunjie Ding, Sharlynn Wu, Sina Shadfar, Emily K Don, Anand Deva, Garth Nicholson, Dominic B Rowe, Ian Blair, Shu Yang, Julie D Atkin

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

人源化酵母模型揭示了与神经病变相关的丙氨酰tRNA合成酶突变的显性负性特性

Rebecca Meyer-Schuman,Sheila Marte,Tyler J Smith,Shawna M E Feely,Marina Kennerson,Garth Nicholson,Mike E Shy,Kristin S Koutmou,Anthony Antonellis

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

CYLD 是额颞叶痴呆症(肌萎缩侧索硬化症)的致病基因

Carol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey M G Ragagnin, Zac Chatterton, Francine Carew-Jones, Claire E Shepherd, Holly Stefen, Esmeralda Paric, Thomas Fath, Elizabeth M Thompson, Peter Blumbergs, Cathy L Short, Colin D Field, Peter K Panegyres, Jane Hecker, Garth Nicholson, A

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling

一种用于阿尔茨海默病和额颞叶痴呆症疾病建模的诱导性多能干细胞衍生的基底前脑样胆碱能神经元的生成简单分化方案

Sonia Sanz Muñoz, Martin Engel, Rachelle Balez, Dzung Do-Ha, Mauricio Castro Cabral-da-Silva, Damian Hernández, Tracey Berg, Jennifer A Fifita, Natalie Grima, Shu Yang, Ian P Blair, Garth Nicholson, Anthony L Cook, Alex W Hewitt, Alice Pébay, Lezanne Ooi

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

使用患者来源的 iPSC 模拟 X 连锁远端遗传性运动神经病的发病机制

Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I Takata, Carlos E Speck-Martins, Garth Nicholson, Marina L Kennerson

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

FUS(一种 RNA 加工蛋白)突变会导致家族性肌萎缩侧索硬化症 6 型

Caroline Vance #, Boris Rogelj #, Tibor Hortobágyi #, Kurt J De Vos #, Agnes Lumi Nishimura, Jemeen Sreedharan, Xun Hu, Bradley Smith, Deborah Ruddy, Paul Wright, Jeban Ganesalingam, Kelly L Williams, Vineeta Tripathi, Safa Al-Saraj, Ammar Al-Chalabi, P Nigel Leigh, Ian P Blair, Garth Nicholson, Jac

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

家族性和散发性肌萎缩侧索硬化症中的 TDP-43 突变

Jemeen Sreedharan, Ian P Blair, Vineeta B Tripathi, Xun Hu, Caroline Vance, Boris Rogelj, Steven Ackerley, Jennifer C Durnall, Kelly L Williams, Emanuele Buratti, Francisco Baralle, Jacqueline de Belleroche, J Douglas Mitchell, P Nigel Leigh, Ammar Al-Chalabi, Christopher C Miller, Garth Nicholson,