mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes
mTOR通路体细胞致病变异与皮质发育局灶性畸形：新型变异、拓扑映射和临床结果
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200103
Krochmalnek, Eric; Accogli, Andrea; St-Onge, Judith; Addour-Boudrahem, Nassima; Prakash, Gyan; Kim, Sung-Hoon; Brunette-Clement, Tristan; Alhajaj, Ghadd; Mougharbel, Lina; Bruneau, Elena; Myers, Kenneth A; Dubeau, Francois; Karamchandani, Jason; Farmer, Jean-Pierre; Atkinson, Jeffrey; Hall, Jeffrey; Chantal Poulin, Chantal; Rosenblatt, Bernard; Lafond-Lapalme, Joel; Weil, Alexander; Fallet-Bianco, Catherine; Albrecht, Steffen; Sonenberg, Nahum; Riviere, Jean-Baptiste; Dudley, Roy W; Srour, Myriam
