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Last Updated: 03/06/2025
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Found 149 publications
Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome.
Journal: Nature cardiovascular research
Published: August 28, 2024
A Natural History Study of Timothy Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: June 03, 2024
A Natural History Study of Timothy Syndrome.
Journal: Orphanet journal of rare diseases
Published: May 15, 2024
Making sense of Timothy syndrome with 3D human neuronal models.
Journal: Neuron
Published: May 14, 2024
Targeting RNA opens therapeutic avenues for Timothy syndrome.
Journal: Nature
Published: April 10, 2024
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.
Journal: Children (Basel, Switzerland)
Published: April 07, 2024
Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.
Journal: Stem cell research
Published: February 10, 2024
Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.
Journal: PloS one
Published: February 09, 2024
The evolution of mammalian Rem2: unraveling the impact of purifying selection and coevolution on protein function, and implications for human disorders.
Journal: Frontiers in bioinformatics
Published: February 03, 2024
Last Updated: 03/06/2025