Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances.
Osaka H et al.
Brain & Development, 2025
Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria.
Keritam O et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
Garg D et al.
Parkinsonism & Related Disorders, 2024
LncRNA TubAR complexes with TUBB4A and TUBA1A to promote microtubule assembly and maintain myelination.
Liang X et al.
Cell Discovery, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.
Ben Jdila M et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.
Xiao H et al.
Molecular Neurobiology, 2022
DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.
Bally JF et al.
Movement Disorders Clinical Practice, 2022
H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.
Krajka V et al.
Science Advances, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A et al.
Scientific Reports, 2022
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF et al.
Neurology, 2021
Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.
Delorme C et al.
European Journal of Neurology, 2021
MRI Features in a Rat Model of H-ABC Tubulinopathy.
Garduno-Robles A et al.
Frontiers in Neuroscience, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Vulinovic F et al.
Human Mutation, 2018
Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
Di Fonzo A et al.
Current Neurology and Neuroscience Reports, 2018
Diagnosis and treatment of pediatric onset isolated dystonia.
Zorzi G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth.
Watanabe N et al.
Biochemical and Biophysical Research Communications, 2018
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel J et al.
Human Molecular Genetics, 2017
Screening study of TUBB4A in isolated dystonia.
Vulinovic F et al.
Parkinsonism & Related Disorders, 2017
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.
Lu Y et al.
Human Genome Variation, 2017
The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.
Chakraborti S et al.
Cytoskeleton (hoboken, N.j.), 2016
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M et al.
Parkinsonism & Related Disorders, 2015
A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited.
Erro R et al.
Brain : a Journal of Neurology, 2015
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Erro R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Kancheva D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
Hamilton EM et al.
Brain : a Journal of Neurology, 2015
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A et al.
Neurology, 2014
Recent advances in the genetics of dystonia.
Xiao J et al.
Current Neurology and Neuroscience Reports, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM et al.
Brain : a Journal of Neurology, 2014
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
Purnell SM et al.
Pediatric Neurology, 2014
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
Blumkin L et al.
Neurogenetics, 2014
Pathogenic variants in TUBB4A are not found in primary dystonia.
Vemula SR et al.
Neurology, 2014
Genetic variants in diseases of the extrapyramidal system.
Oczkowska A et al.
Current Genomics, 2014
A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.
Law BM et al.
The Journal of Biological Chemistry, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Genetics in dystonia: an update.
Fuchs T et al.
Current Neurology and Neuroscience Reports, 2013
De Novo mutations in the β-tubulin gene TUBB4: from DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome).
Alexoudi A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Primary and secondary dystonic syndromes: an update.
Charlesworth G et al.
Current Opinion in Neurology, 2013
The genetics of dystonia: new twists in an old tale.
Charlesworth G et al.
Brain : a Journal of Neurology, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Simons C et al.
American Journal of Human Genetics, 2013
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J et al.
Annals of Neurology, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K et al.
Annals of Neurology, 2013
Movement disorders: Advancing our understanding of dystonias--genetic studies reveal TUBB4 mutation in patients with dystonia type 4.
Malpass K
Nature Reviews. Neurology, 2013
Genetic issues in the diagnosis of dystonias.
Petrucci S et al.
Frontiers in Neurology, 2013