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
Protein Structure Prediction for Disease-Related Insertions/Deletions in Presenilin 1 Gene.
Avramouli A et al.
Advances in Experimental Medicine and Biology, 2023
Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.
Rabaneda-Bueno R et al.
Genes, 2021
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Arber C et al.
Cell Reports, 2021
PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.
Barthelson K et al.
Journal of Alzheimer's Disease : Jad, 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
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Zhang S et al.
Molecular Psychiatry, 2020
Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.
You C et al.
Frontiers in Neurology, 2020
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.
Wu YY et al.
Open Biology, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 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
Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations.
Yang J et al.
Oncotarget, 2017
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
Deng B et al.
Neurotoxicity Research, 2014
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B et al.
Neurobiology of Aging, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease.
Tiedt HO et al.
Neuroscience Letters, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease.
Guo J et al.
Neuroscience Letters, 2010