Fragile X Syndrome: From Genetics to Targeted Treatment

Part I. Clinics, Diagnosis, Epidemiology, Molecular Mechanisms, And Models -- The Clinical Phenotype Of The Fragile X Syndrome And Related Disorders -- Fragile X Syndrome Genetics -- Molecular Diagnostics And Genetic Counseling In Fragile X Syndrome And Fmr1-associated Disorders -- Epidemiology Of Fragile X Syndrome -- Mechanisms Of Repeat Instability In Fragile X Syndrome -- Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells -- Animal Models Of Fragile X Syndrome -- Part Ii. Pathways Involved -- Rna And Protein Targets Of Fmrp -- The Mglur Theory Of Fragile X: From Mice To Men -- The Gabaergic System Contributions To The Fragile X Syndrome Phenotype -- Intracellular Signaling Networks In Fragile X Syndrome: Approaches To Drug Discovery And Therapeutics -- The Endocannabinoid System In Fragile X Syndrome -- Glycogen Synthase Kinase-3: Abnormalities And Therapeutic Potential In Fragile X Syndrome -- Defects In Rho Gtpase Signaling To The Spine Actin Cytoskeleton In Fmr1 Knockout Mice -- Matrix Metalloproteinases In Fragile X Syndrome -- Ion Channel Dysfunction And Fxs -- Reactivation Of The Fmr1 Gene -- Part Iii. Clinical Trials -- Drug Discovery For Targeted Pharmacotherapy Of Fragile X Syndrome -- Overview Of Targeted Double-blind, Placebo-controlled Clinical Trials In Fragile X Syndrome -- Reflections On Clinical Trials In Fragile X Syndrome -- Outcome Measures In Clinical Trials For Fragile X Syndrome: The Search For Sensitive Neurocognitive Assays -- Fragile X Research From A Parental Perspective. Edited By Rob Willemsen, R. Frank Kooy. Includes Bibliographical References And Index.