Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S230N
Back to variants list

PSEN1

NM_000021.4:p.S230N

Associated Papers

15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN.

Daniels AJ et al.

Npj Dementia, 2026

41709913 (PubMed )
Supplement: 44400_2025_47_MOESM1_ESM.pdf

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

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

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

32333592 (PubMed )
Supplement: sj-xlsx-1-alz-10.3233_jad-200052.xlsx › Supplementary_Table_3

Does the Right Focal Variant of Alzheimer's Disease Really Exist? A Literature Analysis.

Abbate C et al.

Journal of Alzheimer's Disease : Jad, 2019

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Karch CM et al.

Alzheimer's Research & Therapy, 2018

A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism.

Ringman JM et al.

Neuroscience Letters, 2017

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."