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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
A Novel Presenilin-1 Mutation (Leu226Val) In Early Onset Alzheimer's Disease With Parkinsonism.
Zilioli A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer's Disease and Other Neurodegenerative Diseases.
Sun Y et al.
International Journal of Molecular Sciences, 2024
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
A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.
Tortelli R et al.
International Journal of Molecular Sciences, 2021
Psychiatric Disorders in Alzheimer Disease With the Presenilin-1 L226F Mutation.
Bartesaghi F et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2020
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.
Gao Y et al.
Neurobiology of Aging, 2019
Gene mutations in a Han Chinese Alzheimer's disease cohort.
Ma L et al.
Brain and Behavior, 2019
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation.
Liu J et al.
Journal of Alzheimer's Disease : Jad, 2019
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
Influence of solubilization and AD-mutations on stability and structure of human presenilins.
Yang G et al.
Scientific Reports, 2017
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
Park J et al.
Neurobiology of Aging, 2017
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).
Fray S et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2016
PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.
An SS et al.
Clinical Interventions in Aging, 2016
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Highly pathogenic Alzheimer's disease presenilin 1 P117R mutation causes a specific increase in p53 and p21 protein levels and cell cycle dysregulation in human lymphocytes.
Bialopiotrowicz E et al.
Journal of Alzheimer's Disease : Jad, 2012
Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.
Wu YY et al.
Journal of Alzheimer's Disease : Jad, 2011
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
Presenilin/gamma-Secretase and Inflammation.
Saura CA
Frontiers in Aging Neuroscience, 2010
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.
Bernardi L et al.
Neurobiology of Aging, 2009
Presenilin-dependent expression of STIM proteins and dysregulation of capacitative Ca2+ entry in familial Alzheimer's disease.
Bojarski L et al.
Biochimica Et Biophysica Acta, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 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
The genetics of very early onset Alzheimer disease.
Filley CM et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2007
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.
Nelson O et al.
The Journal of Clinical Investigation, 2007
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
Zekanowski C et al.
Experimental Neurology, 2006
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001
Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA et al.
Alzheimer Disease and Associated Disorders, 0