Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Aynekin B et al.
Neurogenetics, 2025
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.
Caputo M et al.
International Journal of Molecular Sciences, 2023
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
Muto V et al.
International Journal of Molecular Sciences, 2023
Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan MY et al.
Frontiers in Neurology, 2022
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
Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features.
Tian D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Salpietro V et al.
Brain : a Journal of Neurology, 2017
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 Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E et al.
American Journal of Human Genetics, 2016
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