Skip to search formSkip to main contentSkip to account menu
You are currently offline. Some features of the site may not work correctly.

TUBB4A gene

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

Related topics

Related topics

4 relations

Broader (1)

Genes
TUBB geneTUBB3 geneTUBB3 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants
Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized… 
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… 
2015
2015
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia
Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with… 
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… 
  • figure 1
  • table 1
  • table 2
Highly Cited
2014
Highly Cited
2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic… 
  • figure 1
  • figure 2
  • table 1
  • table 2
  • figure 3
2014
2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies
Objective: We performed whole-exome sequencing analysis of patients with genetically unsolved hypomyelinating… 
  • table 1
  • figure 1
  • figure 2
  • figure 3
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… 
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
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… 
  • table 1
  • table 2
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… 
Highly Cited
1964
Highly Cited
1964
THE INTERACTION OF PORPHYRINS AND METALLOPORHYRINS WITH APOCYTOCHROME BETA-5.
The preparation of undenatured apocytochrome bs and the apoprotein of an iodinated and acetylated derivative of cytochrome bs… 
  • table I
  • table II
  • table III
  • figure 2
  • figure 4
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE