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

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

筛查英国肌萎缩侧索硬化症患者群体,为 C9orf72 扩增的多种起源提供证据

Pietro Fratta, James M Polke, Jia Newcombe, Sarah Mizielinska, Tammaryn Lashley, Mark Poulter, Jon Beck, Elisavet Preza, Anny Devoy, Katie Sidle, Robin Howard, Andrea Malaspina, Richard W Orrell, Jan Clarke, Ching-Hua Lu, Kin Mok, Toby Collins, Maryam Shoaii, Tina Nanji, Selina Wray, Gary Adamson, A

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

患有自身免疫但不伴低丙种球蛋白血症的患者出现 LRBA 基因缺失

Siobhan O Burns, Helen L Zenner, Vincent Plagnol, James Curtis, Kin Mok, Michael Eisenhut, Dinakantha Kumararatne, Rainer Doffinger, Adrian J Thrasher, Sergey Nejentsev

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

伴有 C9ORF72 六核苷酸重复扩增的额颞叶痴呆:临床、神经解剖学和神经病理学特征

Colin J Mahoney, Jon Beck, Jonathan D Rohrer, Tammaryn Lashley, Kin Mok, Tim Shakespeare, Tom Yeatman, Elizabeth K Warrington, Jonathan M Schott, Nick C Fox, Martin N Rossor, John Hardy, John Collinge, Tamas Revesz, Simon Mead, Jason D Warren