H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

(2014) Carlos Ferreira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

(2014) Eline M. Hamilton et al.   BRAIN

TUBB4A de novo mutations cause isolated hypomyelination

(2014) A. Pizzino et al.   NEUROLOGY

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

(2014) S. Miyatake et al.   NEUROLOGY

Pathogenic variants in TUBB4A are not found in primary dystonia

(2014) S. R. Vemula et al.   NEUROLOGY

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

(2013) Sheena Chew et al.   BRAIN

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

(2013) Thomas D. Cushion et al.   BRAIN

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in theTUBB4gene

(2012) Katja Lohmann et al.   ANNALS OF NEUROLOGY

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

(2012) Joshua Hersheson et al.   ANNALS OF NEUROLOGY

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

(2012) Martin Breuss et al.   Cell Reports

Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal

(2011) Robert A. Wilcox et al.   MOVEMENT DISORDERS

Distinct α- and β-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the ‘multi-tubulin’ hypothesis

(2010) Max A. Tischfield et al.   BIOSCIENCE REPORTS

Tumoral and tissue-specific expression of the major human β-tubulin isotypes

(2010) Luis J. Leandro-García et al.   Cytoskeleton