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Global impairment of immediate-early genes expression in rett syndrome models and patients linked to myelination defects

Labeling fraction at the active hydride was calculated by comparing the measured isotopic labeling pattern of NADPH to NADP +

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In the acute stage, the most commonly noted histopathological feature is the peribulbar lymphocytic infiltrate, often described as a swarm of bees. However, this infiltrate may not be observed in some patients, especially in the advanced stages of the disease