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
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.
Takada LT et al.
Alzheimer's Research & Therapy, 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
A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).
Kim HR et al.
Journal of Alzheimer's Disease : Jad, 2021
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.
Gondim DD et al.
Journal of Neuropathology and Experimental Neurology, 2019
Discovery and validation of autosomal dominant Alzheimer's disease mutations.
Hsu S et al.
Alzheimer's Research & Therapy, 2018
Identification of missing variants by combining multiple analytic pipelines.
Ren Y et al.
Bmc Bioinformatics, 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
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
Lohmann E et al.
Neurobiology of Aging, 2012
Novel Presenilin-1 Mutation (Ala275Ser) Associated With Clinical Features of Dementia With Lewy Bodies.
Joshi P et al.
Alzheimer Disease and Associated Disorders, 0
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0