ArticleScience advances2022
H-ABC- and dystonia-causing
Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The trial behind it
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Who cites it
14 citing papers in PubMed.
- Towards a systems-level view of the microtubule cytoskeleton and its functions in physiology and disease.Nature reviews. Molecular cell biology · 2026Review
- Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Selective vulnerability of dopaminergic neurons in Parkinson's disease connects PRKN and differential expression of CHCHD2 and GPNMB.Cell death & disease · 2026Article
- Role of α-tubulin helix 11' in heterodimer conformation and microtubule dynamics.bioRxiv : the preprint server for biology · 2026Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Case Report of Bilateral Subthalamic Nucleus Deep Brain Stimulation in an Adolescent TUBB4A Patient: She Can Sit on a Horse.Movement disorders clinical practice · 2025Article
- TUBB4A relieves high glucose-induced cardiomyocyte hypertrophy and apoptosis through the regulation of ubiquitination and activation of the NOTCH signaling pathway.Cytotechnology · 2025Article
- Transcriptomic insights into fate choice of pallial versus subpallial GABAergic neurons.Nature communications · 2025Article
- Identification of a functional missense variant in the matrix metallopeptidase 10 (MMP10) gene in two families with premature myocardial infarction.Scientific reports · 2024Article
- Deep brain stimulation in an adolescent with hypomyelination with atrophy of the basal ganglia and cerebellum due to a TUBB4A mutation: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.PLoS computational biology · 2022Article
- The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.Frontiers in cellular neuroscience · 2022Review
- The organization of microtubules and Tau in oligodendrocytes: Tau pathology in damaged oligodendrocytes.Frontiers in cell and developmental biology · 2022Review
- Novel advanced patient-derivedFrontiers in neurologyReview
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Currently, the mechanisms of how
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.