• Progranulin mutations in clinical and neuropathological Alzheimer’s disease 

      Vardarajan, Badri N.; Reyes-Dumeyer, Dolly; L. Piriz1, Angel; Lantigua, Rafael A.; Medrano, Martin; Rivera, Diones; Jiménez-Velázquez, Ivonne Z.; Martin, Eden; Pericak-Vance, Margaret A.; Bush, William; Farrer, Lindsay; Haines, Jonathan L.; Wang, Li-San; Yee Leung, Yuk; Schellenberg, Gerard; Kukull, Walter; De Jager, Philip; Bennett, David A.; Schneider, Julie A.; Alzheimer’s Disease Sequencing Project; Mayeux, Richard (Alzheimers Dement., 2022-12-10)
      Progranulin (GRN) mutations occur in frontotemporal lobar degeneration (FTLD) and in Alzheimer’s disease (AD), often with TDP-43 pathology. We determined the frequency of rs5848 and rare, pathogenic GRN mutations in two ...