Associated Papers
Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
Garg D et al.
Parkinsonism & Related Disorders, 2024
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
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A et al.
Scientific Reports, 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF et al.
Neurology, 2021
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Vulinovic F et al.
Human Mutation, 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
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.
Lu Y et al.
Human Genome Variation, 2017
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M et al.
Parkinsonism & Related Disorders, 2015
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
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
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K et al.
Annals of Neurology, 2013
[Dystonia genes and elucidation of their roles in dystonia pathogenesis].
Kawarai T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype.
Sarkar P et al.
Annals of Indian Academy of Neurology, 0
DYT-TUBB4A: First Family from India with the Arg2Gly Mutation.
Garg D et al.
Annals of Indian Academy of Neurology, 0