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

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

额颞叶痴呆症家族中的致病性前颗粒蛋白突变和 C9orf72 重复扩增

Tammaryn Lashley, Jonathan D Rohrer, Colin Mahoney, Elizabeth Gordon, Jon Beck, Simon Mead, Jason Warren, Martin Rossor, Tamas Revesz

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

额颞叶痴呆症中 C9orf72 GGGGCC 重复扩增的纯合性

Pietro Fratta, Mark Poulter, Tammaryn Lashley, Jonathan D Rohrer, James M Polke, Jon Beck, Natalie Ryan, Davina Hensman, Sarah Mizielinska, Adrian J Waite, Mang-Ching Lai, Tania F Gendron, Leonard Petrucelli, Elizabeth M C Fisher, Tamas Revesz, Jason D Warren, John Collinge, Adrian M Isaacs, Simon M

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