Associated Papers
PICALM Genetic Variant Alters mRNA Expression Without Affecting Protein Levels or Tau Spreading in Alzheimer's Disease.
Ando K et al.
Cells, 2026
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 2023
Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.
Wężyk M 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
PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.
Orozco-Barajas M et al.
Frontiers in Aging Neuroscience, 2022
Triplication of Synaptojanin 1 in Alzheimer's Disease Pathology in Down Syndrome.
Hwang R et al.
Current Alzheimer Research, 2022
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2018
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.
Wang C et al.
Cell Reports, 2018
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Sajan SA et al.
Clinical Case Reports, 2018
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.
Sutovsky S et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2018
Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.
Wezyk M et al.
Journal of Alzheimer's Disease : Jad, 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
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 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
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G et al.
European Journal of Human Genetics : Ejhg, 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
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D et al.
Journal of Alzheimer's Disease : Jad, 2012
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Using a genetically targeted sensor to investigate the role of presenilin-1 in ER Ca2+ levels and dynamics.
McCombs JE et al.
Molecular Biosystems, 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
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein, Abeta40, in sporadic and familial Alzheimer's disease.
Thaker U et al.
Neuropathology and Applied Neurobiology, 2003
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D et al.
American Journal of Human Genetics, 1999
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
Gómez-Isla T et al.
Brain : a Journal of Neurology, 1999
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
Poorkaj P et al.
Human Mutation, 1998
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0
[New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease].
Lladó A et al.
Neurologia (barcelona, Spain), 0