Associated Papers
Rare ABCA7 mutations in Alzheimer's disease and cerebral amyloid angiopathy pathology.
Hendrickx Van de Craen E et al.
Neurobiology of Aging, 2026
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.
Bossaerts L et al.
Acta Neuropathologica Communications, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.
Tortelli R et al.
International Journal of Molecular Sciences, 2021
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Potent amyloidogenicity and pathogenicity of Aβ43.
Saito T et al.
Nature Neuroscience, 2011
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Molecular genetics of Alzheimer's disease: an update.
Brouwers N et al.
Annals of Medicine, 2008
Contribution of presenilin transmembrane domains 6 and 7 to a water-containing cavity in the gamma-secretase complex.
Tolia A et al.
The Journal of Biological Chemistry, 2006
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.
Kumar-Singh S et al.
Human Mutation, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003