Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I202F
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PSEN1

NM_000021.4:p.I202F

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 › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Willumsen N et al.

Brain Pathology (zurich, Switzerland), 2022

Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.

O'Connor A et al.

Brain : a Journal of Neurology, 2021

33892504 (PubMed )
Supplement: awab166_supplementary_data.zip › awab166-suppl_data › brain-2020-02233-File010.pdf

Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Kalaria RN et al.

The American Journal of Pathology, 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

Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.

Trambauer J et al.

Current Opinion in Neurobiology, 2020

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.

Weston PSJ et al.

Alzheimer's Research & Therapy, 2019

30786919 (PubMed )
Supplement: 13195_2019_472_MOESM1_ESM.docx

Accelerated long-term forgetting in presymptomatic autosomal dominant Alzheimer's disease: a cross-sectional study.

Weston PSJ et al.

The Lancet. Neurology, 2018

29413314 (PubMed )
Supplement: mmc1.pdf

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

Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.

Weston PSJ et al.

Neurology, 2017

29070659 (PubMed )
Supplement: supp_WNL.0000000000004667_Table_e-1.docx

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

Ryan NS et al.

The Lancet. Neurology, 2016

Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.

Szaruga M et al.

The Journal of Experimental Medicine, 2015

An atomic structure of human γ-secretase.

Bai XC et al.

Nature, 2015

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Pilotto A et al.

Biomed Research International, 2013

A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.

Church A et al.

Neurobiology of Aging, 2011

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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."