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
Chemical imaging delineates Aβ plaque polymorphism across the Alzheimer's disease spectrum.
Koutarapu S et al.
Nature Communications, 2025
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Koriath CAM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
Alzheimer-mutant γ-secretase complexes stall amyloid β-peptide production.
Arafi P et al.
Elife, 2025
The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.
Arber C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Elucidating the Protonation State of the γ-Secretase Catalytic Dyad.
Guzmán-Ocampo DC et al.
Acs Chemical Neuroscience, 2023
A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report.
Roveta F et al.
Journal of Alzheimer's Disease Reports, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Jiang L et al.
Neurobiology of Aging, 2022
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.
Willumsen N et al.
Brain Pathology (zurich, Switzerland), 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C et al.
Hgg Advances, 2022
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Arber C et al.
Cell Reports, 2021
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.
Shen L et al.
Biochemical and Biophysical Research Communications, 2019
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T).
Jo H et al.
Journal of Alzheimer's Disease : Jad, 2019
Representing Diversity in the Dish: Using Patient-Derived in Vitro Models to Recreate the Heterogeneity of Neurological Disease.
Ghaffari LT 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
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 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
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B et al.
Neurobiology of Aging, 2014
Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.
Nakaya Y et al.
The Journal of Biological Chemistry, 2005