Associated Papers
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H et al.
Clinical Genetics, 2024
38044714 (PubMed )
Supplement: supplement_1.xlsx › Detailed_Table
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system.
Alves G et al.
Psychogeriatrics : the Official Journal of the Japanese Psychogeriatric Society, 2022
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Dzinovic I et al.
Neurogenetics, 2021
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ et al.
Clinical Genetics, 2021
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