Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes.
van Heusden FC et al.
Alzheimer's Research & Therapy, 2023
Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.
Mol MO et al.
Alzheimer's Research & Therapy, 2022
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
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Potent amyloidogenicity and pathogenicity of Aβ43.
Saito T et al.
Nature Neuroscience, 2011
A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.
Lladó A et al.
European Journal of Neurology, 2010
A novel PS1 gene mutation in a large Aboriginal kindred.
Butler R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2010
Presenilin/gamma-Secretase and Inflammation.
Saura CA
Frontiers in Aging Neuroscience, 2010
Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.
Futai E et al.
The Journal of Biological Chemistry, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
Larner AJ et al.
Journal of the Neurological Sciences, 2007
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
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Cruts M et al.
Human Molecular Genetics, 1998
A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.
van Duijn CM et al.
American Journal of Human Genetics, 1994