Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
CAPN1变异体在痉挛性共济失调中的作用日益增强,且表型与基因型存在相关性
期刊:Neurogenetics
影响因子:1.2
doi:10.1007/s10048-020-00633-2
Méreaux, Jean-Loup; Firanescu, Cristina; Coarelli, Giulia; Kvarnung, Malin; Rodrigues, Rita; Pegoraro, Elena; Tazir, Meriem; Taithe, Frédéric; Valter, Rémi; Huin, Vincent; Lidström, Kristina; Banneau, Guillaume; Morais, Sara; Parodi, Livia; Coutelier, Marie; Papin, Mélanie; Svenningsson, Per; Azulay, Jean-Philippe; Alonso, Isabel; Nilsson, Daniel; Brice, Alexis; Le Guern, Eric; Press, Rayomand; Vazza, Giovanni; Loureiro, José Leal; Goizet, Cyril; Durr, Alexandra; Paucar, Martin; Stevanin, Giovanni