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

Muscle MRI quantifies disease progression in amyotrophic lateral sclerosis

肌肉磁共振成像可量化肌萎缩侧索硬化症的疾病进展

Klickovic, Uros; Zampedri, Luca; Zafeiropoulos, Nick; Ziff, Oliver J; Sinclair, Christopher Dj; Wastling, Stephen; Dudziec, Magdalena; Allen, Jodie; Trimmel, Karin; Howard, Robin S; Malaspina, Andrea; Sharma, Nikhil; Sidle, Katie Cl; Shah, Sachit; Nasel, Christian; Yousry, Tarek A; Greensmith, Linda; Morrow, Jasper M; Thornton, John S; Fratta, Pietro

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

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

致病性AR CAG重复序列扩增在普通人群中出现频率出乎意料地高

Zanovello, Matteo; Ibáñez, Kristina; Brown, Anna-Leigh; Sivakumar, Prasanth; Bombaci, Alessandro; Santos, Liana; van Vugt, Joke J F A; Narzisi, Giuseppe; Karra, Ramita; Scholz, Sonja W; Ding, Jinhui; Gibbs, J Raphael; Chiò, Adriano; Dalgard, Clifton; Weisburd, Ben; Hanna, Michael G; Greensmith, Linda; Phatnani, Hemali; Veldink, Jan H; Traynor, Bryan J; Polke, James; Houlden, Henry; Fratta, Pietro; Tucci, Arianna

Ageing contributes to phenotype transition in a mouse model of periodic paralysis

衰老导致周期性麻痹小鼠模型出现表型转变

Suetterlin, Karen J; Tan, S Veronica; Mannikko, Roope; Phadke, Rahul; Orford, Michael; Eaton, Simon; Sayer, Avan A; Grounds, Miranda D; Matthews, Emma; Greensmith, Linda; Hanna, Michael G

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

JAM2双等位基因变异导致早发性隐性原发性家族性脑钙化

Schottlaender, Lucia V; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou-Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P M; Livingston, John H; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard-Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry

Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice

脊髓延髓肌萎缩小鼠的肌肉力量和收缩特性恶化是早期病理事件。

Gray, Anna L; Annan, Leonette; Dick, James R T; La Spada, Albert R; Hanna, Michael G; Greensmith, Linda; Malik, Bilal

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

骨骼肌磁共振成像可以区分脊髓延髓肌萎缩症(SBMA)和肌萎缩侧索硬化症(ALS),并且与疾病严重程度相关。

Klickovic, Uros; Zampedri, Luca; Sinclair, Christopher D J; Wastling, Stephen J; Trimmel, Karin; Howard, Robin S; Malaspina, Andrea; Sharma, Nikhil; Sidle, Katie; Emira, Ahmed; Shah, Sachit; Yousry, Tarek A; Hanna, Michael G; Greensmith, Linda; Morrow, Jasper M; Thornton, John S; Fratta, Pietro

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice

人源化突变型FUS在“FUSDelta14”敲入小鼠中驱动进行性运动神经元退化,但不发生聚集。

Devoy, Anny; Kalmar, Bernadett; Stewart, Michelle; Park, Heesoon; Burke, Beverley; Noy, Suzanna J; Redhead, Yushi; Humphrey, Jack; Lo, Kitty; Jaeger, Julian; Mejia Maza, Alan; Sivakumar, Prasanth; Bertolin, Cinzia; Soraru, Gianni; Plagnol, Vincent; Greensmith, Linda; Acevedo Arozena, Abraham; Isaacs, Adrian M; Davies, Benjamin; Fratta, Pietro; Fisher, Elizabeth M C

Cellular Chaperones As Therapeutic Targets in ALS to Restore Protein Homeostasis and Improve Cellular Function

细胞分子伴侣作为肌萎缩侧索硬化症的治疗靶点,可恢复蛋白质稳态并改善细胞功能

Kalmar, Bernadett; Greensmith, Linda