Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2025
Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
Zhuang J et al.
Molecular Cytogenetics, 2024
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
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L et al.
Molecular Genetics & Genomic Medicine, 2023
Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy.
Lee HF et al.
Clinical Neurology and Neurosurgery, 2022
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
Cordani R et al.
Neuropediatrics, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
The evolutionary conserved TLDc domain defines a new class of (H+)V-ATPase interacting proteins.
Eaton AF et al.
Scientific Reports, 2021
Crystal structure of the TLDc domain of human NCOA7-AS.
Arnaud-Arnould M et al.
Acta Crystallographica. Section F, Structural Biology Communications, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Lüthy K et al.
Brain : a Journal of Neurology, 2019
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
Zhang J et al.
Seizure, 2019
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R et al.
Human Molecular Genetics, 2019
Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.
Li J et al.
Frontiers in Neurology, 2018
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Balestrini S et al.
Neurology, 2016