Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I83T
Back to variants list

PSEN1

NM_000021.4:p.I83T

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

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

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Bagyinszky E et al.

Brain Sciences, 2021

Refractory epilepsy in PSEN 1 mutation (I83T).

Fray S et al.

Neurocase, 2020

Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Zhang S et al.

Frontiers in Psychiatry, 2020

Quantifying correlations between mutational sites in the catalytic subunit of γ-secretase.

Chávez-García C et al.

Journal of Molecular Graphics & Modelling, 2019

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

30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

Gallo M et al.

Neurobiology of Aging, 2017

Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).

Fray S et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2016

Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.

Achouri-Rassas A et al.

Neurobiology of Aging, 2015

Genetic Variants Associated With Alzheimer Disease in the 22 Arab Countries: A Systematic Review.

Al-Thani HF et al.

Alzheimer Disease and Associated Disorders, 0

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."