Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.Q303H
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TARDBP

NM_007375.4:p.Q303H

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

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.

Lattante S et al.

European Journal of Neurology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.

Xu F et al.

Bmc Medical Genomics, 2022

35932023 (PubMed )
Supplement: 12920_2022_1327_MOESM1_ESM.docx

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis.

Milani M et al.

Journal of Neuroinflammation, 2021

A novel S379A TARDBP mutation associated to late-onset sporadic ALS.

Sprovieri T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019

Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS).

Smethurst P et al.

Neuropathology and Applied Neurobiology, 2015

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.

Janssens J et al.

Human Molecular Genetics, 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.

Ye CH et al.

Plos One, 2013

[Study of mutations in 5'-noncoding region of BCL-6 gene in B-cell non-Hodgkin's lymphomas].

Min DL et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2004

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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."