Associated Papers
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Aynekin B et al.
Neurogenetics, 2025
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.
Caputo M et al.
International Journal of Molecular Sciences, 2023
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy.
Chen CL et al.
Children (basel, Switzerland), 2021
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Al-Bakheet A et al.
Clinical Genetics, 2021
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature.
Zhang Y et al.
Neuropediatrics, 2020
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked B et al.
Clinical Genetics, 2017
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Miyake N et al.
American Journal of Human Genetics, 2016
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
Quitmann CM et al.
Child Neurology Open, 0
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