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

Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration in C9orf72 Amyotrophic Lateral Sclerosis via ADA

反义二肽重复蛋白通过ADA驱动C9orf72肌萎缩侧索硬化症中广泛的嘌呤代谢异常。

Benjamin Hall,Lydia Castelli,Adrian Higginbottom,Jingxuan He,Ling-Nan Zou,Heather Walker,Miriam Yagüe-Capilla,Kari E Wong,David J Burrows,Jonathan George,Keaton Hamer,Jenny M Tanner,Ergita Kyrgiou-Balli,Rees Ross,Herbie Garland,Erin Tonkiss,Rachel George,Christopher P Webster,Emma F Smith,Hannah O Timmons,Jess Allsop,Nikolas Stefanidis,Billie D Ward,Ya-Hui Lin,J Robin Highley,Mimoun Azzouz,Ryan J H West,Sean G Rudd,Kurt J De Vos,Pamela J Shaw,Guillaume M Hautbergue,Scott P Allen

HyperdCas12a-based multiplexed genetic regulation in Candida albicans

基于HyperdCas12a的白色念珠菌多重基因调控

Gervais, Nicholas C; Rogers, Ruby K J; Robin, Madeleine R; Shapiro, Rebecca S

DeepExtremeCubes: Earth system spatio-temporal data for assessing compound heatwave and drought impacts

DeepExtremeCubes:用于评估复合热浪和干旱影响的地球系统时空数据

Ji, Chaonan; Fincke, Tonio; Benson, Vitus; Camps-Valls, Gustau; Fernández-Torres, Miguel-Ángel; Gans, Fabian; Kraemer, Guido; Martinuzzi, Francesco; Montero, David; Mora, Karin; Pellicer-Valero, Oscar J; Robin, Claire; Söchting, Maximilian; Weynants, Mélanie; Mahecha, Miguel D

Human amyotrophic lateral sclerosis/motor neuron disease: The disease-associated microglial pathway is upregulated while APOE genotype governs risk and survival

人类肌萎缩侧索硬化症/运动神经元疾病:疾病相关的微胶质细胞通路上调,而APOE基因型决定风险和生存率

Ashford, Bridget A; Simpson, Julie E; Dawson, Charlotte; Boche, Delphine; Cooper-Knock, Johnathan; Heath, Paul R; Fillingham, Daniel; Appleby-Mallinder, Charlie; Wei, Wenbin; Dunning, Mark; Highley, J Robin

Molecular Determinants of Protein Pathogenicity at the Single-Aggregate Level

单聚集体水平上的蛋白质致病性的分子决定因素

Agnieszka Urbanek, Emma F Garland, Emily E Prescott, Marianne C King, Anna Olerinyova, Hollie E Wareing, Nia Georgieva, Ellie L Bradshaw, Svetomir B Tzokov, Alexander Knight, Alexander I Tartakovskii, Tarja Malm, J Robin Highley, Suman De

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys)

对携带新型 EFEMP1 突变(c.1313,p.Tyr438Cys)的青少年开角型青光眼家系进行长期随访

Young, Brian P; Nyunt, Angela W; Clymer, Molly A; Tollefson, Mallory R; Roos, Ben R; Schnieders, Michael J; Robin, Alan L; Fingert, John H

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47

遗传性痉挛性截瘫47型AP4B1基因替代疗法的临床前开发

Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K Davies, Paolo M Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J Robin Highley, Neil Hackett, Adrienn Angy

Measuring mental health action competencies in school teachers: internal and external validity evidence

衡量学校教师心理健康行动能力:内部效度和外部效度证据

Kerry, Matthew J; Robin, Dominik; Albermann, Kurt; Dratva, Julia

Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

在携带TARDBP基因p.Y374X截断突变的ALS家系中,TDP-43蛋白表达异常。

Johnathan Cooper-Knock ,Thomas H Julian ,Emily Feneberg ,J Robin Highley ,Maurice Sidra ,Martin R Turner ,Kevin Talbot ,Olaf Ansorge ,Scott P Allen ,Tobias Moll ,Tatyana Shelkovnikova ,Lydia Castelli ,Guillaume M Hautbergue ,Christopher Hewitt ,Janine Kirby ,Stephen B Wharton ,Richard J Mead ,Pamela J Shaw

A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations

Y374X TDP43 截断导致肌萎缩侧索硬化成纤维细胞的代谢特征发生改变,这是由丙酮酸和 TCA 循环中间体改变引起的

Scott P Allen, Afnan Al Sultan, Elaine Kabucho Kibirige, Erin Tonkiss, Keaton J Hamer, Lydia M Castelli, Ya-Hui Lin, Sarah Roscoe, Nikolaos Stefanidis, Richard J Mead, J Robin Highley, Johnathan Cooper-Knock, Guillaume M Hautbergue, Paul R Heath, Janine Kirby, Pamela J Shaw