A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype

Thomas, Q; Nambot, S; Béjot, Y; Philippe, C; Faivre, L; Duffourd, Y; Thauvin-Robinet, C; Dupont, G

Thomas, Q (通讯作者),CHU Dijon Bourgogne, Hop Enfants, Ctr Genet, FHU TRANSLAD, F-21000 Dijon, France.

ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 2023; 37 (1): 82

Abstract

Early-onset forms of Alzheimer disease (AD) have been associated with pathogenic variants in the APP, PSEN1, and PSEN2 genes. Mutations in presenilin-......

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