Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T119I
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PSEN1

NM_000021.4:p.T119I

Associated Papers

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

Acosta-Uribe J et al.

Npj Dementia, 2026

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

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Research Square, 2025

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Silvaieh S et al.

Human Genomics, 2023

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Silvaieh S et al.

Human Genomics, 2023

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 2022

Advances in Genetics and Epigenetic Alterations in Alzheimer's Disease: A Notion for Therapeutic Treatment.

Rabaneda-Bueno R et al.

Genes, 2021

Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.

Shademan B et al.

Neuromolecular Medicine, 2021

Generation of a human induced pluripotent stem cell line from a familial Alzheimer's disease PSEN1 T119I patient.

Isaja L et al.

Stem Cell Research, 2021

Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.

Llibre-Guerra JJ et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).

Kim HR et al.

Journal of Alzheimer's Disease : Jad, 2021

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Bagyinszky E et al.

Diagnostics (basel, Switzerland), 2020

PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Kim YE et al.

Scientific Reports, 2020

A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.

Itzcovich T et al.

Neurobiology of Aging, 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

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

Genetics of dementia: insights from Latin America.

Ramos C et al.

Dementia & Neuropsychologia, 0

Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.

Colijn MA et al.

Alzheimer Disease and Associated Disorders, 0

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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."