Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.G43V
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TUBA4A

NM_006000.3:p.G43V

Associated Papers

TUBA4A: The Tale of an Unconventional Tubulin.

Zhu JL et al.

Cytoskeleton (hoboken, N.j.), 2025

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Benkirane M et al.

Brain : a Journal of Neurology, 2024

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration.

Ganne A et al.

Scientific Reports, 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

Multiple roles for the cytoskeleton in ALS.

Liu X et al.

Experimental Neurology, 2022

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.

Mol MO et al.

Neurology. Genetics, 2021

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F et al.

Neurobiology of Aging, 2017

Amyotrophic lateral sclerosis: recent genetic highlights.

White MA et al.

Current Opinion in Neurology, 2016

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

Pensato V et al.

Journal of Neurology, 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN et al.

Neuron, 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."