Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis
亨廷顿病患者血液中体细胞CAG重复序列扩增与神经退行性变生物标志物相关,且这种关联在临床运动症状出现前数十年就已存在。
期刊:Nature Medicine
影响因子:50
doi:10.1038/s41591-024-03424-6
Scahill, Rachael I; Farag, Mena; Murphy, Michael J; Hobbs, Nicola Z; Leocadi, Michela; Langley, Christelle; Knights, Harry; Ciosi, Marc; Fayer, Kate; Nakajima, Mitsuko; Thackeray, Olivia; Gobom, Johan; Rönnholm, John; Weiner, Sophia; Hassan, Yara R; Ponraj, Nehaa K P; Estevez-Fraga, Carlos; Parker, Christopher S; Malone, Ian B; Hyare, Harpreet; Long, Jeffrey D; Heslegrave, Amanda; Sampaio, Cristina; Zhang, Hui; Robbins, Trevor W; Zetterberg, Henrik; Wild, Edward J; Rees, Geraint; Rowe, James B; Sahakian, Barbara J; Monckton, Darren G; Langbehn, Douglas R; Tabrizi, Sarah J