Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.N279K
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MAPT

NM_005910.6:p.N279K

Associated Papers

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Nan H et al.

Alzheimer's Research & Therapy, 2024

Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.

Morino H et al.

Movement Disorders Clinical Practice, 2024

Osteopontin drives neuroinflammation and cell loss in MAPT-N279K frontotemporal dementia patient neurons.

Al-Dalahmah O et al.

Cell Stem Cell, 2024

Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.

Villa C et al.

Frontiers in Bioscience (landmark Edition), 2024

A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy.

Li H et al.

Frontiers in Neurology, 2024

Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Do MD et al.

Brain and Behavior, 2023

Genetics of frontotemporal dementia in China.

Jiang Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Ramos EM et al.

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

FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.

Tacik P et al.

Brain Pathology (zurich, Switzerland), 2017

Closing the tau loop: the missing tau mutation.

McCarthy A et al.

Brain : a Journal of Neurology, 2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Di Fonzo A et al.

Neurology, 2014

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.

Kouri N et al.

Acta Neuropathologica, 2014

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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."