Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
Tona R et al.
The Journal of Biological Chemistry, 2024
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.
Salemi M et al.
Acta Neurologica Belgica, 2020
Unresolved questions regarding human hereditary deafness.
Rehman AU et al.
Oral Diseases, 2017
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Ngoh A et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2017
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
Fischer B et al.
Nature Structural & Molecular Biology, 2016
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
Appavu B et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S et al.
Neurology, 2016
The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress.
Finelli MJ et al.
The Journal of Biological Chemistry, 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
Fragaki K et al.
Biological Research, 2016
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Stražišar BG et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
Bakhchane A et al.
Plos One, 2015
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H et al.
Human Mutation, 2014
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
Zhang L et al.
Human Mutation, 2014
Lack of pathogenic mutations in six patients with MMPSI.
De Filippo MR et al.
Epilepsy Research, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Rehman AU et al.
American Journal of Human Genetics, 2014
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM et al.
The Lancet. Neurology, 2014
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
Milh M et al.
Human Mutation, 2013