Whiten DR, Brownjohn PW, Moore S, De S, Strano A, Zuo Y, Haneklaus M, Klenerman D, Livesey FJ. Tumour necrosis factor induces increased production of extracellular amyloid-β- and α-synuclein-containing aggregates by human Alzheimer's disease neurons. Brain Commun. 2020;2(2):fcaa146. Epub 2020 Sep 15 PubMed.

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Mutations

  1. PSEN1 M146I (G>A)
  2. PSEN1 L113_I114insT (Intron 4)