Petrozziello T, Amaral AC, Dujardin S, Farhan SM, Chan J, Trombetta BA, Kivisäkk P, Mills AN, Bordt EA, Kim SE, Dooley PM, Commins C, Connors TR, Oakley DH, Ghosal A, Gomez-Isla T, Hyman BT, Arnold SE, Spires-Jones T, Cudkowicz ME, Berry JD, Sadri-Vakili G. Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid. Brain Pathol. 2022 Mar;32(2):e13035. Epub 2021 Nov 14 PubMed.

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Mutations

  1. MAPT L266V
  2. MAPT K317M
  3. MAPT V363I
  4. MAPT N410H