TUBB4A gene

Known as: beta-5, TUBULIN, BETA, CLASS IVA, tubulin beta 4A class IVa 
 
National Institutes of Health

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Broader (1)

Genes
TUBB geneTUBB3 geneTUBB3 wt Allele

Papers overview

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2016
2016
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
BACKGROUND Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first described in 2002. After the recent… (More)
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2015
2015
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
Sir, We read with great interest the article on rare leukoencephalopathy related to TUBB4A gene, hypomyelination with atrophy of… (More)
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2015
2015
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
BACKGROUND Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe… (More)
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2015
2015
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
INTRODUCTION Mutations in TUBB4A have recently been implicated in two seemingly different disease entities, namely DYT4-isolated… (More)
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2015
2015
A de novo <ce:italic>TUBB4A</ce:italic> mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease
OBJECTIVE Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes… (More)
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2014
2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
OBJECTIVE We performed whole-exome sequencing analysis of patients with genetically unsolved hypomyelinating… (More)
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2014
2014
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical… (More)
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2014
2014
Pathogenic variants in TUBB4A are not found in primary dystonia.
OBJECTIVE To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with "whispering… (More)
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2014
2014
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
BACKGROUND Leukodystrophies are a large group of inherited diseases of central nervous system myelin. There are few treatments… (More)
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Highly Cited
2013
Highly Cited
2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoencephalopathy that was… (More)
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