Associated Papers
Early functional changes and plasma GFAP in Swedish families with Autosomal Dominant Alzheimer's disease mutations.
Luckett ES et al.
Translational Psychiatry, 2026
Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.
Johansson C et al.
Alzheimer's Research & Therapy, 2025
Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.
Xia Y et al.
Neurology and Therapy, 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
Selective association of EEG microstates with clinical symptoms and mutation status in monogenic Alzheimer disease.
Johansson C et al.
Neuroimage. Clinical, 2025
Skin and Induced Pluripotent Stem Cells as Biomarkers for Neurodegenerative Diseases.
Rallis E et al.
Genes, 2024
Gene-variant specific effects of plasma amyloid-β levels in Swedish autosomal dominant Alzheimer disease.
Johansson C et al.
Alzheimer's Research & Therapy, 2024
Odor Identification Across Time in Mutation Carriers and Non-Carriers in Autosomal-Dominant Alzheimer's Disease.
Almkvist O et al.
Journal of Alzheimer's Disease : Jad, 2024
Tracking reactive astrogliosis in autosomal dominant and sporadic Alzheimer's disease with multi-modal PET and plasma GFAP.
Chiotis K et al.
Molecular Neurodegeneration, 2023
Plasma biomarker profiles in autosomal dominant Alzheimer's disease.
Johansson C et al.
Brain : a Journal of Neurology, 2023
APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal-dominant Alzheimer's disease.
Almkvist O et al.
European Journal of Neurology, 2022
Aβ and tau prions feature in the neuropathogenesis of Down syndrome.
Condello C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.
Abrahamson EE et al.
Brain : a Journal of Neurology, 2022
Brain transcriptomes of zebrafish and mouse Alzheimer's disease knock-in models imply early disrupted energy metabolism.
Barthelson K et al.
Disease Models & Mechanisms, 2022
Practice effects in cognitive assessments three years later in non-carriers but not in symptom-free mutation carriers of autosomal-dominant Alzheimer's disease: Exemplifying procedural learning and memory?
Almkvist O et al.
Frontiers in Aging Neuroscience, 2022
The APOE ε4 Allele Affects Cognitive Functions Differently in Carriers of APP Mutations Compared to Carriers of PSEN1 Mutations in Autosomal-Dominant Alzheimer's Disease.
Almkvist O et al.
Genes, 2021
Plasma metabolomics of presymptomatic PSEN1-H163Y mutation carriers: a pilot study.
Natarajan K et al.
Annals of Clinical and Translational Neurology, 2021
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 2020
Cortical microstructural correlates of astrocytosis in autosomal-dominant Alzheimer disease.
Vilaplana E et al.
Neurology, 2020
Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.
Kaur G et al.
Journal of Alzheimer's Disease : Jad, 2020
Longitudinal cognitive decline in autosomal-dominant Alzheimer's disease varies with mutations in APP and PSEN1 genes.
Almkvist O et al.
Neurobiology of Aging, 2019
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.
Thordardottir S et al.
Alzheimer's Research & Therapy, 2018
Cholesterol impairs autophagy-mediated clearance of amyloid beta while promoting its secretion.
Barbero-Camps E et al.
Autophagy, 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
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Predicting Cognitive Decline across Four Decades in Mutation Carriers and Non-carriers in Autosomal-Dominant Alzheimer's Disease.
Almkvist O et al.
Journal of the International Neuropsychological Society : Jins, 2017
The effects of different familial Alzheimer's disease mutations on APP processing in vivo.
Thordardottir S et al.
Alzheimer's Research & Therapy, 2017
Brain imaging evidence of early involvement of subcortical regions in familial and sporadic Alzheimer's disease.
Tentolouris-Piperas V et al.
Brain Research, 2017
Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease.
Rodriguez-Vieitez E et al.
Brain : a Journal of Neurology, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Early astrocytosis in autosomal dominant Alzheimer's disease measured in vivo by multi-tracer positron emission tomography.
Schöll M et al.
Scientific Reports, 2015
White matter changes in familial Alzheimer's disease.
Li X et al.
Journal of Internal Medicine, 2015
Preclinical cerebrospinal fluid and volumetric magnetic resonance imaging biomarkers in Swedish familial Alzheimer's disease.
Thordardottir S et al.
Journal of Alzheimer's Disease : Jad, 2015
Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.
Shi Z et al.
Dementia and Geriatric Cognitive Disorders, 2015
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
El Kadmiri N et al.
Neuroscience, 2014
Rare Variants and Transcriptomics in Alzheimer disease.
Humphries C et al.
Current Genetic Medicine Reports, 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
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings.
Kim J et al.
Neuroscience Letters, 2012
Genetics of dementia: update and guidelines for the clinician.
Cohn-Hokke PE et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012
Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy.
Borroni B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012
Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation.
Schöll M et al.
Neurobiology of Aging, 2011
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.
Keller L et al.
European Journal of Human Genetics : Ejhg, 2010