Schultz S, Liu L, Schultz A, Fitzpatrick C, Levin R, Bellier J-P, Shirzadi Z, Mathurin N, Chen C, Benzinger T, Day G, Farlow M, Gordon B, Hassenstab J, Jack C, Jucker M, Karch C, Lee J, Levin J, Perrin R, Schofield P, Xiong C, Johnson K, McDade E, Bateman R, Sperling R, Selkoe D, Chhatwal J, theDominantlyInheritedAlzheimer'sNetworkInvestigators. Functional variations in gamma-secretase activity are critical determinants of the clinical, biomarker, and cognitive progression of autosomal dominant Alzheimer's disease. 2023 Jul 25 10.1101/2023.07.04.547688 (version 2) bioRxiv.

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Mutations

  1. PSEN1 L226R
  2. PSEN1 M233T
  3. PSEN1 I238M
  4. PSEN1 T245P
  5. PSEN1 A260V
  6. PSEN1 R269H
  7. PSEN1 E280A (Paisa)
  8. PSEN1 C410Y
  9. PSEN1 A426P
  10. PSEN1 A275V
  11. PSEN1 S230N
  12. PSEN1 A260G
  13. PSEN1 F176V