Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I143M
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PSEN1

NM_000021.4:p.I143M

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

Very Early Onset Familial Alzheimer's Disease Due to Mutation in PSEN1 I143T - First Case Report from South Asia.

Anandan S et al.

Neurology India, 2024

Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Kalaria RN et al.

The American Journal of Pathology, 2021

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

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

Akinyemi RO et al.

Journal of the Neurological Sciences, 2016

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.

Zhang S et al.

Neuroscience and Biobehavioral Reviews, 2015

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Genetics of Alzheimer disease.

Bekris LM et al.

Journal of Geriatric Psychiatry and Neurology, 2010

Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.

Larner AJ et al.

Journal of Alzheimer's Disease : Jad, 2009

Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation.

Arai N et al.

Neurogenetics, 2008

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

Pathological and clinical heterogeneity of presenilin 1 gene mutations.

Menéndez M

Journal of Alzheimer's Disease : Jad, 2004

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.

Heckmann JM et al.

Brain : a Journal of Neurology, 2004

[Alzheimer's disease due to presenilin mutations].

Tabira T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004

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