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A gene therapy aimed at correcting fragile X syndrome by restoring the missing FMR1 protein has demonstrated multiple disease-relevant improvements in a mouse model, according to a...
The therapy restored FMRP expression in crucial brain regions, resulting in reduced audiogenic seizure susceptibility, normalized sensory hyperactivity, and complete reversal of el...
A large genetic analysis suggests that Phelan-McDermid syndrome may affect far more people than previously recognized. For some families, a genetic diagnosis can explain years of m...
A research team including personnel from the Departament of Biologia Celullar i Biologia Funcional at the Universitat of València (UV), the Unitat Predepartamental de Medicina at U...
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