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Updated: Jul 7, 2026

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
Published on: July 6, 2022
[Girls with fragile X syndrome: a model for specific developmental disorders]
M T Ferrando-Lucas1, A Puente-Ferreras
1Servicio de Neuropediatría, Hospital Quirón. mtferrando.mad@quiron.es
Introduction And Development:
The prevalence of specific developmental disorders (SDD) in everyday practice is high, and an interdisciplinary approach is required for their diagnosis and management. The ultimate pathophysiology of these disorders remains a great challenge to researchers and progress is limited by the fact that there are no experimental models that reproduce the cognitive-behavioural complexity of the human being.
Conclusions:
Girls with fragile X syndrome, which has a wide range of cognitive-behavioural signs and symptoms that allow the clinical features of SDD to coincide in the same person, in whom the intellectual quotient is preserved and for whom our present knowledge of the syndrome does offer pathophysiological structural bases in the central nervous system, may constitute a valuable model to help us understand SDD.
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08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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10:59Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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