Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology.
DNAJC7 的双等位基因变异会导致具有 TDP-43 病理的家族性肌萎缩侧索硬化症
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-025-02899-y
Yamashita Toru, Yokota Osamu, Ousaka Daiki, Sun Hongming, Haraguchi Takashi, Ota-Elliott Ricardo Satoshi, Matsuoka Chika, Kawano Tomohito, Nakashima-Yasuda Hanae, Fukui Yusuke, Nakano Yumiko, Morihara Ryuta, Hasegawa Masato, Hosono Yasuyuki, Terada Seishi, Takaki Manabu, Ishiura Hiroyuki