Publications by authors named "R F Bauer"

Article Synopsis
  • - Timothy syndrome, caused by variants in the CACNA1C gene, was originally recognized for its cardiac symptoms (long QT syndrome) and physical abnormalities (syndactyly), but more recent research has unveiled a wider range of symptoms associated with different CACNA1C variants.
  • - A survey was conducted with parents of Timothy syndrome patients to gather information on various symptoms, grouping participants by genetic type and initial diagnosis to compare their conditions.
  • - The study found that patients commonly show both cardiac and extra-cardiac symptoms, such as neurodevelopmental issues and respiratory problems, regardless of their classification, indicating that the current understanding of "non-syndromic" cases may not fully capture the complexity of the disease.
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The nervous system, especially the human brain, is characterized by its highly complex network topology. The neurodevelopment of some of its features has been described in terms of dynamic optimization rules. We discuss the principle of adaptive rewiring, i.

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