Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.N279K
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PSEN1

NM_000021.4:p.N279K

Associated Papers

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.

Aloisio S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations.

Boeve BF et al.

Advances in Experimental Medicine and Biology, 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

The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review.

He S et al.

Neuropsychiatric Disease and Treatment, 2018

Tau physiology and pathomechanisms in frontotemporal lobar degeneration.

Bodea LG et al.

Journal of Neurochemistry, 2016

Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier.

Ng AS et al.

Annals of Clinical and Translational Neurology, 2015

Tau alternative splicing in familial and sporadic tauopathies.

Niblock M et al.

Biochemical Society Transactions, 2012

MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology.

Kantarci K et al.

Neurology, 2010

Neurodegeneration and hereditary dementias: 40 years of learning.

Ghetti B

Journal of Alzheimer's Disease : Jad, 2006

Presymptomatic semantic impairment in a case of fronto-temporal lobar degeneration associated with the +16 mutation in MAPT.

Garrard P et al.

Neurocase, 2005

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

Boeve BF et al.

Brain : a Journal of Neurology, 2005

[Familial forms of Alzheimer's disease].

Maréchal L et al.

Presse Medicale (paris, France : 1983), 2003

Tau, where are we now?

Johnson GV et al.

Journal of Alzheimer's Disease : Jad, 2002

[Clinical symptoms and speech disturbance in frontotemporal dementia and parkinsonism linked to chromosome 17 with tau mutation].

Wada C et al.

No to Shinkei = Brain and Nerve, 2002

Genetic counselling and genetic screening for Alzheimer's disease and other dementias.

Sadovnick AD

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2001

Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias.

Barghorn S et al.

Biochemistry, 2000

Tau protein isoforms, phosphorylation and role in neurodegenerative disorders.

Buée L et al.

Brain Research. Brain Research Reviews, 2000

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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."