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
In Silico Structural Analysis Exploring Conformational Folding of Protein Variants in Alzheimer's Disease.
Efraimidis E 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
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
APOE and dementia - resequencing and genotyping in 105,597 individuals.
Rasmussen KL et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
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
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
Luedecke D et al.
Neuroscience Letters, 2014
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
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
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
Larner AJ et al.
Journal of the Neurological Sciences, 2007
Prevalence and causes of seizures at the time of diagnosis of probable Alzheimer's disease.
Lozsadi DA et al.
Dementia and Geriatric Cognitive Disorders, 2006
Single-photon emission computed tomography perfusion imaging in the differential diagnosis of dementia: a retrospective regional audit.
Doran M et al.
International Journal of Clinical Practice, 2005
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
Doran M et al.
European Archives of Psychiatry and Clinical Neuroscience, 2004
Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
Larner AJ et al.
European Journal of Neurology, 2003
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
Perez-Tur J et al.
Neurodegeneration : a Journal for Neurodegenerative Disorders, Neuroprotection, and Neuroregeneration, 1996