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The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Autor: Liu L; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Schultz SA; Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Saba A; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Yang HS; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Li A; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Selkoe DJ; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Chhatwal JP; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

Publikováno v: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2024 Nov 19. Date of Electronic Publication: 2024 Nov 19.