Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
39214300 (PubMed )
Supplement: mmc1.docx
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R et al.
Genes, 2020
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
Zhang J et al.
Seizure, 2019
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
Banuelos E et al.
F1000research, 2017
[Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures].
Shang KW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S et al.
Neurology, 2016
27281533 (PubMed )
Supplement: supp_WNL.0000000000002807_707513_Supplemental_data_amended.docx
Select a paper to view details