Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
扩展 RNA 聚合酶 III 相关脑白质营养不良的表型和分子谱
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000425
Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K; Michell-Robinson, Mackenzie A; Tran, Luan T; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B; Tejera-Martin, Ingrid; Monton, Fernando I; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Geneviève