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Creators/Authors contains: "McCray, Brett"

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  1. ; ; ; ; ; ; ; (, Neurology Genetics)
    Charcot-Marie-Tooth (CMT) disease comprises a group of inherited peripheral neuropathies caused by pathogenic variants in various genes, including ATP1A1. This gene encodes the ubiquitous α1 subunit of the sodium pump that generates the Na + and K + gradients that are essential for neuronal survival and excitability. We present the clinical cases of 2 unrelated patients with the same ATP1A1 variant causing dominant intermediate CMT disease and the functional characterization of the variant in the heterologous expression system. 
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    Free, publicly-accessible full text available October 1, 2026
  2. ; ; ; ; (, Biophysical Journal)
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