Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F388S
Back to variants list

PSEN1

NM_000021.4:p.F388S

Associated Papers

Novel Association of the Presenilin-1 (Leu282Arg) Mutation with Isolated Spastic Paraparesis: Case Presentation and Review of Current Evidence.

De la Sen-Domínguez M et al.

Journal of Clinical Medicine, 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

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.

Fernández SG et al.

Molecular Neurodegeneration, 2025

40281586 (PubMed )
Supplement: 13024_2025_832_MOESM1_ESM.docx

Sequence of decline on the NIH-toolbox cognitive battery in a predominantly Latino sample with autosomal dominant Alzheimer's disease.

Petkus AJ et al.

Journal of Alzheimer's Disease : Jad, 2025

Retinal and Optic Nerve Lesions Correspond to Amyloid in Autosomal Dominant Alzheimer's Disease.

Kashani AH et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Motor abilities and cognitive performance in Latinos with autosomal dominant Alzheimer's disease.

Petkus AJ et al.

The Journal of Prevention of Alzheimer's Disease, 2025

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Ringman JM et al.

Brain Communications, 2023

Longitudinal clinical, cognitive and biomarker profiles in dominantly inherited versus sporadic early-onset Alzheimer's disease.

Llibre-Guerra JJ et al.

Brain Communications, 2023

Abnormal retinal capillary blood flow in autosomal dominant Alzheimer's disease.

Singer MB et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2021

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."