Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.M359I
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TARDBP

NM_007375.4:p.M359I

Associated Papers

Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.

Lombardi M et al.

Genes, 2023

38002982 (PubMed )
Supplement: genes-14-02039-s001.zip › genes-2688630-supplementary › genes-2688630.xlsx › 267_paz

Short-term suppression of A315T mutant human TDP-43 expression improves functional deficits in a novel inducible transgenic mouse model of FTLD-TDP and ALS.

Ke YD et al.

Acta Neuropathologica, 2015

Adenoviral expression of TDP-43 and FUS genes and shRNAs for protein degradation pathways in rodent motoneurons in vitro and in vivo.

Watabe K et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.

Swarup V et al.

Brain : a Journal of Neurology, 2011

The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia.

Mackenzie IR et al.

Current Opinion in Neurology, 2008

Update on recent molecular and genetic advances in frontotemporal lobar degeneration.

Bigio EH

Journal of Neuropathology and Experimental Neurology, 2008

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E et al.

Nature Genetics, 2008

TDP-43 A315T mutation in familial motor neuron disease.

Gitcho MA et al.

Annals of Neurology, 2008

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