Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S290Splc
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PSEN1

NM_000021.4:p.S290Splc

Associated Papers

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

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

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

Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization.

Altuna M et al.

Journal of Neurology, 2022

Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.

O'Connor A et al.

Brain : a Journal of Neurology, 2021

33892504 (PubMed )
Supplement: awab166_supplementary_data.zip › awab166-suppl_data › brain-2020-02233-File010.pdf

Quantitative detection and staging of presymptomatic cognitive decline in familial Alzheimer's disease: a retrospective cohort analysis.

O'Connor A et al.

Alzheimer's Research & Therapy, 2020

33023653 (PubMed )
Supplement: 13195_2020_695_MOESM1_ESM.docx

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

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.

Weston PSJ et al.

Alzheimer's Research & Therapy, 2019

30786919 (PubMed )
Supplement: 13195_2019_472_MOESM1_ESM.docx

Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.

Weston PSJ et al.

Neurology, 2017

29070659 (PubMed )
Supplement: supp_WNL.0000000000004667_Table_e-1.docx

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Rovelet-Lecrux A et al.

Molecular Psychiatry, 2015

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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."