Associated Papers
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Cavalli A et al.
Bmc Medical Genomics, 2024
38443934 (PubMed )
Supplement: 12920_2024_1840_MOESM1_ESM.xlsx › Foglio1
Pleiotropic functions of TAO kinases and their dysregulation in neurological disorders.
Byeon S et al.
Science Signaling, 2024
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Hunter JM et al.
Cold Spring Harbor Molecular Case Studies, 2022
Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities.
Yu L et al.
Frontiers in Genetics, 2022
Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.
Lintas C et al.
Journal of Clinical Medicine, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM et al.
Human Mutation, 2021
Clinical and Neurobiological Aspects of TAO Kinase Family in Neurodevelopmental Disorders.
Hu C et al.
Frontiers in Molecular Neuroscience, 2021
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