John M Ringman Karen H Gylys Luis D Medina Michelle Fox Vladimir Kepe Deborah L Flores Liana G Apostolova Jorge R Barrio Gary Small Daniel H Silverman Erin Siu Stephen Cederbaum Silva Hecimovic Martina Malnar Suma Chakraverty Alison M Goate Thomas D Bird James B Leverenz
10.1016/j.neulet.2010.10.039
Neurosci Lett
2011 Jan 10;487(3):287-92.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/21094210/
Alzheimer Disease / genetics Alzheimer Disease / physiopathology Mutation Presenilin-1 / genetics
Alzheimer Disease / genetics Alzheimer Disease / physiopathology Mutation Presenilin-1 / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Age of Onset Alzheimer Disease / pathology Brain / pathology Brain / physiopathology Female Humans Male Middle Aged Neuropsychological Tests Pedigree Positron-Emission Tomography PSEN1 protein, human Presenilin-1
PMC3034479
21094210
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation
2011