AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-023-02579-9
Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan