Uttner I, Kirchheiner J, Tumani H, Mottaghy FM, Lebedeva E, Ozer E, Ludolph AC, Huber R, von Arnim CA. A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. Eur J Neurol. 2010 Apr;17(4):631-3. PubMed.

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Mutations

  1. PSEN1 Q223R