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
Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.
Sepulveda-Falla D et al.
Journal of Neuropathology and Experimental Neurology, 2025
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
Wang D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Early molecular events of autosomal-dominant Alzheimer's disease in marmosets with PSEN1 mutations.
Homanics GE et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Impaired Skeletal Development by Disruption of Presenilin-1 in Pigs and Generation of Novel Pig Models for Alzheimer's Disease.
Uh K et al.
Journal of Alzheimer's Disease : Jad, 2024
Comorbidities in Early-Onset Sporadic versus Presenilin-1 Mutation-Associated Alzheimer's Disease Dementia: Evidence for Dependency on Alzheimer's Disease Neuropathological Changes.
Sepulveda-Falla D et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.
Abrahamson EE et al.
Brain : a Journal of Neurology, 2022
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 2018
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
Brain imaging evidence of early involvement of subcortical regions in familial and sporadic Alzheimer's disease.
Tentolouris-Piperas V et al.
Brain Research, 2017
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
Reduced synaptic STIM2 expression and impaired store-operated calcium entry cause destabilization of mature spines in mutant presenilin mice.
Sun S et al.
Neuron, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA et al.
Plos Genetics, 2013
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Supnet C et al.
Cell Calcium, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011
Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers.
Knight WD et al.
Brain : a Journal of Neurology, 2011
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Nelson O et al.
Journal of Alzheimer's Disease : Jad, 2010
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease.
Koivunen J et al.
Brain : a Journal of Neurology, 2008
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
Klunk WE et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
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
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
Poorkaj P et al.
Human Mutation, 1998
Bridging the rodent to human translational gap: Marmosets as model systems for the study of Alzheimer's disease.
Sukoff Rizzo SJ et al.
Alzheimer's & Dementia (new York, N. Y.), 0