Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L, Van Deerlin VM, Warren JD, Fox NC, Rossor MN, Mead S, Bocchetta M, Boeve BF, Knopman DS, Graff-Radford NR, Forsberg LK, Rademakers R, Wszolek ZK, van Swieten JC, Jiskoot LC, Meeter LH, Dopper EG, Papma JM, Snowden JS, Saxon J, Jones M, Pickering-Brown S, Le Ber I, Camuzat A, Brice A, Caroppo P, Ghidoni R, Pievani M, Benussi L, Binetti G, Dickerson BC, Lucente D, Krivensky S, Graff C, Öijerstedt L, Fallström M, Thonberg H, Ghoshal N, Morris JC, Borroni B, Benussi A, Padovani A, Galimberti D, Scarpini E, Fumagalli GG, Mackenzie IR, Hsiung GR, Sengdy P, Boxer AL, Rosen H, Taylor JB, Synofzik M, Wilke C, Sulzer P, Hodges JR, Halliday G, Kwok J, Sanchez-Valle R, Lladó A, Borrego-Ecija S, Santana I, Almeida MR, Tábuas-Pereira M, Moreno F, Barandiaran M, Indakoetxea B, Levin J, Danek A, Rowe JB, Cope TE, Otto M, Anderl-Straub S, de Mendonça A, Maruta C, Masellis M, Black SE, Couratier P, Lautrette G, Huey ED, Sorbi S, Nacmias B, Laforce R Jr, Tremblay ML, Vandenberghe R, Damme PV, Rogalski EJ, Weintraub S, Gerhard A, Onyike CU, Ducharme S, Papageorgiou SG, Ng AS, Brodtmann A, Finger E, Guerreiro R, Bras J, Rohrer JD, FTD Prevention Initiative. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. Lancet Neurol. 2020 Feb;19(2):145-156. Epub 2019 Dec 3 PubMed.

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Mutations

  1. MAPT IVS9-11G>C
  2. MAPT IVS9-10 G>C
  3. MAPT K257T
  4. MAPT L266V
  5. MAPT G272V
  6. MAPT G273R
  7. MAPT IVS9-10 G>T (g(-10)t)
  8. MAPT N279K
  9. MAPT K281del (K280del)
  10. MAPT N296N
  11. MAPT N296H
  12. MAPT N296del
  13. MAPT P301T
  14. MAPT P301S
  15. MAPT P301L
  16. MAPT G303V
  17. MAPT S305S
  18. MAPT S305N
  19. MAPT S305I
  20. MAPT L315R
  21. MAPT L315L
  22. MAPT K317M
  23. MAPT S320F
  24. MAPT G335S
  25. MAPT G335V
  26. MAPT Q336R
  27. MAPT V337M
  28. MAPT V363I
  29. MAPT K369I
  30. MAPT G389R (G>A)
  31. MAPT R406W
  32. MAPT T427M
  33. MAPT IVS10+3 G>A
  34. MAPT IVS10+11 T>C
  35. MAPT IVS10+12 C>T
  36. MAPT IVS10+13 A>G
  37. MAPT IVS10+16 C>T
  38. MAPT IVS10+19 C>G
  39. MAPT P332S
  40. MAPT G366R
  41. MAPT P364S
  42. MAPT IVS10+4 A>C
  43. MAPT IVS9-15 T>C
  44. MAPT IVS10+15 A>C
  45. MAPT C291R
  46. MAPT Q336H (G>C)
  47. MAPT Q351R
  48. MAPT K298E
  49. MAPT V363A
  50. MAPT Q336H (G>T)

News

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