Associated Papers
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M et al.
Brain : a Journal of Neurology, 2026
TUBA4A: The Tale of an Unconventional Tubulin.
Zhu JL et al.
Cytoskeleton (hoboken, N.j.), 2025
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 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
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.
Wan Y et al.
Journal of Medical Genetics, 2024
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration.
Ganne A et al.
Scientific Reports, 2023
Common mechanisms underlying axonal transport deficits in neurodegenerative diseases: a mini review.
Yang X et al.
Frontiers in Molecular Neuroscience, 2023
Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
Zocchi R et al.
Frontiers in Cellular Neuroscience, 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
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
Autophagy Dysfunction in ALS: from Transport to Protein Degradation.
Cozzi M et al.
Journal of Molecular Neuroscience : Mn, 2022
Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology.
Van Schoor E et al.
Biomolecules, 2022
An autopsy case of pure nigropathy with TUBA4A nonsense mutation.
Okada K et al.
Neuropathology and Applied Neurobiology, 2021
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.
Mol MO et al.
Neurology. Genetics, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS.
Castellanos-Montiel MJ et al.
Frontiers in Cellular Neuroscience, 2020
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
The genetics of amyotrophic lateral sclerosis: current insights.
Alsultan AA et al.
Degenerative Neurological and Neuromuscular Disease, 2016
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
Excess of rare damaging TUBA4A variants suggests cytoskeletal defects in ALS.
Rademakers R et al.
Neuron, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith BN et al.
Neuron, 2014