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
New precision medicine avenues to the prevention of Alzheimer's disease from insights into the structure and function of γ-secretases.
De Strooper B et al.
The Embo Journal, 2024
Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.
Liang Z et al.
Frontiers in Neurology, 2023
Clasping, ledge-score coordination and early gait impairments as primary behavioural markers of functional impairment in Alzheimer's disease.
Castillo-Mariqueo L et al.
Behavioural Brain Research, 2022
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Alterations of Neuronal Lysosomes in Alzheimer's Disease and in APPxPS1-KI Mice.
Androuin A et al.
Journal of Alzheimer's Disease : Jad, 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
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
Seizures as an early symptom of autosomal dominant Alzheimer's disease.
Vöglein J et al.
Neurobiology of Aging, 2019
Glycoprotein NMB: a novel Alzheimer's disease associated marker expressed in a subset of activated microglia.
Hüttenrauch M et al.
Acta Neuropathologica Communications, 2018
Histological and Behavioral Phenotypes of a Novel Mutated APP Knock-In Mouse.
Plucińska K et al.
Journal of Alzheimer's Disease : Jad, 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 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
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
Endogenous Apolipoprotein E (ApoE) Fragmentation Is Linked to Amyloid Pathology in Transgenic Mouse Models of Alzheimer's Disease.
Saul A et al.
Molecular Neurobiology, 2017
Expression of the Alzheimer's Disease Mutations AβPP695sw and PSEN1M146I in Double-Transgenic Göttingen Minipigs.
Jakobsen JE et al.
Journal of Alzheimer's Disease : Jad, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.
Guzmán EA et al.
Molecular Neurodegeneration, 2014
Early onset Alzheimer's disease and oxidative stress.
Meraz-Ríos MA et al.
Oxidative Medicine and Cellular Longevity, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Axonal degeneration in an Alzheimer mouse model is PS1 gene dose dependent and linked to intraneuronal Aβ accumulation.
Christensen DZ et al.
Frontiers in Aging Neuroscience, 2014
REGION-SPECIFIC NEURON AND SYNAPSE LOSS IN THE HIPPOCAMPUS OF APPSL/PS1 KNOCK-IN MICE.
Brasnjevic I et al.
Translational Neuroscience, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Val97Leu mutant presenilin-1 induces tau hyperphosphorylation and spatial memory deficit in mice and the underlying mechanisms.
Wang Y et al.
Journal of Neurochemistry, 2012
Increased phosphorylation of tau and synaptic protein loss in the aged transgenic mice expressing familiar Alzheimer's disease-linked presenilin 1 mutation.
Yang X et al.
Neurochemical Research, 2012
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
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
Antonell A et al.
Neuroscience Letters, 2011
Impaired neurogenesis, neuronal loss, and brain functional deficits in the APPxPS1-Ki mouse model of Alzheimer's disease.
Faure A et al.
Neurobiology of Aging, 2011
Presenilin-1 but not amyloid precursor protein mutations present in mouse models of Alzheimer's disease attenuate the response of cultured cells to γ-secretase modulators regardless of their potency and structure.
Hahn S et al.
Journal of Neurochemistry, 2011
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Deficits in working memory and motor performance in the APP/PS1ki mouse model for Alzheimer's disease.
Wirths O et al.
Neurobiology of Aging, 2008
Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease.
Van Broeck B et al.
Neurobiology of Aging, 2008
Alzheimer disease models and human neuropathology: similarities and differences.
Duyckaerts C et al.
Acta Neuropathologica, 2008
Diet supplement CoQ10 delays brain atrophy in aged transgenic mice with mutations in the amyloid precursor protein: an in vivo volume MRI study.
Li G et al.
Biofactors (oxford, England), 2008
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
A role for presenilin in post-stress regulation: effects of presenilin mutations on Ca2+ currents in Drosophila.
Lu Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007
Modeling clinically heterogeneous presenilin mutations with transgenic Drosophila.
Seidner GA et al.
Current Biology : Cb, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Mice as models: transgenic approaches and Alzheimer's disease.
Games D et al.
Journal of Alzheimer's Disease : Jad, 2006
Age-related loss of synaptophysin immunoreactive presynaptic boutons within the hippocampus of APP751SL, PS1M146L, and APP751SL/PS1M146L transgenic mice.
Rutten BP et al.
The American Journal of Pathology, 2005
Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP.
Pardossi-Piquard R et al.
Neuron, 2005
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
Finckh U et al.
Neurogenetics, 2005
Massive CA1/2 neuronal loss with intraneuronal and N-terminal truncated Abeta42 accumulation in a novel Alzheimer transgenic model.
Casas C et al.
The American Journal of Pathology, 2004
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy.
Velez-Pardo C et al.
Epilepsia, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Behavioral and neurochemical characterization of transgenic mice carrying the human presenilin-1 gene with or without the leucine-to-proline mutation at codon 235.
Huang XG et al.
Experimental Neurology, 2003
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
Miklossy J et al.
Neurobiology of Aging, 2003