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
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Biorxiv : the Preprint Server for Biology, 2024
Primary lateral sclerosis plus parkinsonism: a case report.
Moturu A et al.
Bmc Neurology, 2023
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?
Reitz C et al.
Neurology. Genetics, 2020
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.
Ibanez L et al.
Frontiers in Neuroscience, 2018
The zebrafish orthologue of familial Alzheimer's disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation.
Jiang H et al.
Plos One, 2018
Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.
Singhal A et al.
Plos Computational Biology, 2016
Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.
Canevelli M et al.
Neuroscience and Biobehavioral Reviews, 2014
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
Jayadev S et al.
Brain : a Journal of Neurology, 2010
Molecular genetics of Alzheimer's disease: an update.
Brouwers N et al.
Annals of Medicine, 2008
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J et al.
Human Mutation, 2006
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.
Walker ES et al.
Journal of Neurochemistry, 2005
Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.
Marcon G et al.
Journal of Neuropathology and Experimental Neurology, 2004
Pharmacogenomics for the treatment of dementia.
Cacabelos R
Annals of Medicine, 2002
Novel intronic polymorphisms in the presenilin-2 gene and a case-control association study of Alzheimer's disease.
Honda M et al.
Psychiatry and Clinical Neurosciences, 1999
A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.
Lao JI et al.
Neurogenetics, 1998