Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.N279K
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TARDBP

NM_007375.4: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

Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases.

Sampognaro PJ et al.

Molecular Neurodegeneration, 2023

37131250 (PubMed )
Supplement: 13024_2023_621_MOESM1_ESM.pdf

Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration.

Giannini LAA et al.

Acta Neuropathologica, 2022

Tau and MAPT genetics in tauopathies and synucleinopathies.

Leveille E et al.

Parkinsonism & Related Disorders, 2021

Genetics of Progressive Supranuclear Palsy: A Review.

Wen Y et al.

Journal of Parkinson's Disease, 2021

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

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

American Association of Neuropathologists, Inc. Abstracts of the 95th Annual Meeting June 6-9, 2019 Atlanta, Georgia.

Unknown Author

Journal of Neuropathology and Experimental Neurology, 2019

FTD spectrum: Neuroimaging across the FTD spectrum.

Whitwell JL

Progress in Molecular Biology and Translational Science, 2019

Transactive response DNA-binding protein 43 (TDP-43) regulates alternative splicing of tau exon 10: Implications for the pathogenesis of tauopathies.

Gu J et al.

The Journal of Biological Chemistry, 2017

Distinct binding of PET ligands PBB3 and AV-1451 to tau fibril strains in neurodegenerative tauopathies.

Ono M et al.

Brain : a Journal of Neurology, 2017

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction.

Markopoulou K et al.

Plos One, 2016

New perspective on parkinsonism in frontotemporal lobar degeneration.

Park HK et al.

Journal of Movement Disorders, 2013

Neurodegenerative dementia and parkinsonism.

Gabelle A et al.

The Journal of Nutrition, Health & Aging, 2010

Alternative splicing and disease.

Tazi J et al.

Biochimica Et Biophysica Acta, 2009

LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions.

Huang Y et al.

Acta Neuropathologica, 2008

MAPT S305I mutation: implications for argyrophilic grain disease.

Kovacs GG et al.

Acta Neuropathologica, 2008

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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."