Associated Papers
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Jiang L et al.
Neurobiology of Aging, 2022
Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.
Islam S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.
Miki T et al.
Acta Neuropathologica Communications, 2019
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.
Wang C et al.
Cell Reports, 2018
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 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
Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.
Zhang S et al.
Neuroscience and Biobehavioral Reviews, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene.
Niwa A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 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
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 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
Variations in the neuropathology of familial Alzheimer's disease.
Shepherd C et al.
Acta Neuropathologica, 2009
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.
Sánchez-Valle R et al.
European Journal of Neurology, 2007
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
Shrimpton AE et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2007