Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G417A
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PSEN1

NM_000021.4:p.G417A

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

A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia.

Malaguti MC et al.

Journal of Movement Disorders, 2024

37704566 (PubMed )
Supplement: jmd-23125-Supplementary-Table-1.pdf

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2023

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

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

Rabaneda-Bueno R et al.

Genes, 2021

Multimodal Imaging in a Patient With Alzheimer Disease and Parkinsonism Because of a Presenilin-1 Mutation.

Lu JY et al.

Clinical Nuclear Medicine, 2021

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

Shademan B et al.

Neuromolecular Medicine, 2021

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Senanarong V et al.

Diagnostics (basel, Switzerland), 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

Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.

Giau VV et al.

Neurobiology of Aging, 2018

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Van Giau V et al.

Neuropsychiatric Disease and Treatment, 2018

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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."