Fragile X syndrome : from genetics to targeted treatment /

Bibliographic Details
Other Authors:	Willemsen, Rob (Editor), Kooy, R. Frank (Editor)
Format:	eBook
Language:	English
Published:	London : Elsevier/Academic Press, [2017] ©2017
Subjects:	Fragile X syndrome > Treatment. Fragile X syndrome > Genetic aspects. Fragile X syndrome > genetics. Fragile X syndrome > drug therapy. Molecular Targeted Therapy. Clinical Trials as Topic.
Online Access:	Connect to the full text of this electronic book.

Table of Contents:

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
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
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.