Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M139L
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PSEN1

NM_000021.4:p.M139L

Associated Papers

Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.

Xia Y et al.

Neurology and Therapy, 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

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Poniah P et al.

Genes, 2025

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

Bagaria J et al.

International Journal of Molecular Sciences, 2022

A Rare Variation in the 3' Untranslated Region of the Presenilin 2 Gene Is Linked to Alzheimer's Disease.

Pang Y et al.

Molecular Neurobiology, 2021

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Qin Q et al.

Molecular Genetics & Genomic Medicine, 2020

The Genetics of Alzheimer's Disease in the Chinese Population.

Gan CL et al.

International Journal of Molecular Sciences, 2020

Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Quan M et al.

Alzheimer's Research & Therapy, 2020

PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.

Jia L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.

Gao Y et al.

Neurobiology of Aging, 2019

Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation.

Liu J et al.

Journal of Alzheimer's Disease : Jad, 2019

A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio.

Qiu Q et al.

Journal of Alzheimer's Disease : Jad, 2019

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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."