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TUBB4A gene
Known as:
beta-5
, TUBULIN, BETA, CLASS IVA
, tubulin beta 4A class IVa
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (1)
Genes
TUBB gene
TUBB3 gene
TUBB3 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
F. Vulinovic
,
Victor Krajka
,
+10 authors
A. Rakovic
Human Mutation
2018
Corpus ID: 51922835
Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized…
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2016
2016
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
D. Tonduti
,
C. Aiello
,
+15 authors
E. Bertini
European journal of paediatric neurology
2016
Corpus ID: 27073499
2015
2015
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia
Dahlia Kancheva
,
T. Chamova
,
+5 authors
A. Jordanova
Movement Disorders
2015
Corpus ID: 19802364
Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with…
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2015
2015
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease
K. Shimojima
,
A. Okumura
,
+5 authors
Toshiyuki Yamamoto
Brain & development (Tokyo. )
2015
Corpus ID: 206315148
2015
2015
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
D. Carvalho
,
S. Santos
,
B. Martins
,
Fernanda J P Marques
Brain : a journal of neurology
2015
Corpus ID: 8299413
Sir, We read with great interest the article on rare leukoencephalopathy related to TUBB4A gene, hypomyelination with atrophy of…
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Highly Cited
2014
Highly Cited
2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
E. Hamilton
,
Emiel Polder
,
+12 authors
M. S. van der Knaap
Brain : a journal of neurology
2014
Corpus ID: 5540076
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic…
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2014
2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies
S. Miyatake
,
H. Osaka
,
+13 authors
H. Saitsu
Neurology
2014
Corpus ID: 39520004
Objective: We performed whole-exome sequencing analysis of patients with genetically unsolved hypomyelinating…
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2014
2014
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
Shawn M. Purnell
,
S. Bleyl
,
J. Bonkowsky
Pediatric Neurology
2014
Corpus ID: 19961471
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.
C. Simons
,
N. Wolf
,
+18 authors
A. Vanderver
American Journal of Human Genetics
2013
Corpus ID: 6903826
Highly Cited
1964
Highly Cited
1964
THE INTERACTION OF PORPHYRINS AND METALLOPORHYRINS WITH APOCYTOCHROME BETA-5.
J. Ozols
,
P. Strittmatter
Journal of Biological Chemistry
1964
Corpus ID: 29021856
The preparation of undenatured apocytochrome bs and the apoprotein of an iodinated and acetylated derivative of cytochrome bs…
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