Associated Papers
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Hwang S et al.
Journal of Human Genetics, 2026
Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.
Sase S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis.
Kasamatsu Y et al.
Bmc Research Notes, 2025
Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances.
Osaka H et al.
Brain & Development, 2025
An Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies.
Sharma S et al.
Journal of Magnetic Resonance Imaging : Jmri, 2025
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N et al.
American Journal of Medical Genetics. Part A, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum.
Eguibar JR et al.
Plos One, 2024
Neuropathology of white matter disorders.
Jaunmuktane Z
Handbook of Clinical Neurology, 2024
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Meyer AP et al.
Muscle & Nerve, 2023
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
Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.
Almad AA et al.
Stem Cell Research, 2023
H-ABC tubulinopathy revealed by label-free second harmonic generation microscopy.
Alata M et al.
Scientific Reports, 2022
Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.
Xiao H et al.
Molecular Neurobiology, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
Hashiguchi M et al.
Human Genome Variation, 2022
H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.
Krajka V et al.
Science Advances, 2022
A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy.
Fertuzinhos S 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
Emerging cellular themes in leukodystrophies.
Nowacki JC et al.
Frontiers in Cell and Developmental Biology, 2022
Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.
Gavazzi F et al.
Journal of Child Neurology, 2021
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF et al.
Neurology, 2021
Auditory impairment in H-ABC tubulinopathy.
Lopez-Juarez A et al.
The Journal of Comparative Neurology, 2021
Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model.
Alata M et al.
Frontiers in Neurology, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.
Sase S et al.
Elife, 2020
MRI Features in a Rat Model of H-ABC Tubulinopathy.
Garduno-Robles A et al.
Frontiers in Neuroscience, 2020
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.
Joyal KM et al.
Journal of Neuropathology and Experimental Neurology, 2019
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Vulinovic F et al.
Human Mutation, 2018
[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case].
Otero-Dominguez E et al.
Revista De Neurologia, 2018
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
Simons C et al.
Brain : a Journal of Neurology, 2018
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel J et al.
Human Molecular Genetics, 2017
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC et al.
Neurology, 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
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
Charzewska A et al.
Clinical Genetics, 2016
Reprint of "Hypomyelinating disorders: An MRI approach.
Barkovich AJ et al.
Neurobiology of Disease, 2016
Hypomyelinating disorders: An MRI approach.
Barkovich AJ et al.
Neurobiology of Disease, 2016
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
The clinical syndrome of dystonia with anarthria/aphonia.
Ganos C et al.
Parkinsonism & Related Disorders, 2016
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
Arai-Ichinoi N et al.
Human Genetics, 2016
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