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Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

We have chosen prpTDP-43 A315T mice for our analyses, because this mouse model of TDP-43 pathology was generated based on the A315T mutation detected in the TARDP gene of ALS patients, who had TDP-43 pathology in their cortex 19 , and because the mouse model strictly recapitulated many aspects of the disease, including progressive CSMN degeneration 16

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Frontiers in Neuroscience , 14 , 589042 Yang, C., Han, M., & Li, R., et al