Fragile X Syndrome. From Genetics to Targeted Treatment

Content: 
Front matter,Copyright,Contributors,Foreword,PrefaceEntitled to full textSection I: Clinics, Diagnosis, Epidemiology, Molecular Mechanisms, and ModelsChapter 1 - The Clinical Phenotype of the Fragile X Syndrome and Related Disorders, Pages 1-16, Giovanni Neri
Chapter 2 - Fragile X Syndrome Genetics, Pages 19-39, David L. Nelson, Michael R. Santoro, Stephen T. Warren
Chapter 3 - Molecular Diagnostics and Genetic Counseling in Fragile X Syndrome and FMR1-Associated Disorders, Pages 41-55, Flora Tassone, Montserrat Milà
Chapter 4 - Epidemiology of Fragile X Syndrome, Pages 57-76, Stephanie L. Sherman, Jessica E. Hunter
Chapter 5 - Mechanisms of Repeat Instability in Fragile X Syndrome, Pages 77-102, Karen Usdin, Inbal Gazy, Xiao-Nan Zhao
Chapter 6 - Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells, Pages 103-121, Dan Vershkov, Tamir Ben-Hur, Nissim Benvenisty
Chapter 7 - Animal Models of Fragile X Syndrome, Pages 123-147, R. Frank Kooy, Peng Jin, Han Bao, Sally Till, Peter Kind, Rob Willemsen
Chapter 8 - RNA and Protein Targets of FMRP, Pages 151-171, Joshua Suhl, Charles Hoeffer
Chapter 9 - The mGluR Theory of Fragile X: From Mice to Men, Pages 173-204, Laura J. Stoppel, Emily K. Osterweil, Mark F. Bear
Chapter 10 - The GABAergic System Contributions to the Fragile X Syndrome Phenotype, Pages 205-215, Molly M. Huntsman, R. Frank Kooy
Chapter 11 - Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics, Pages 217-239, Christina Gross, Aditi Bhattacharya
Chapter 12 - The Endocannabinoid System in Fragile X Syndrome, Pages 241-259, Henry G.S. Martin, Daniela Neuhofer, Olivier J.J. Manzoni
Chapter 13 - Glycogen Synthase Kinase-3: Abnormalities and Therapeutic Potential in Fragile X Syndrome, Pages 261-275, Richard S. Jope
Chapter 14 - Defects in Rho GTPase Signaling to the Spine Actin Cytoskeleton in FMR1 Knockout Mice, Pages 277-299, Julie C. Lauterborn, Christine M. Gall
Chapter 15 - Matrix Metalloproteinases in Fragile X Syndrome, Pages 301-322, Douglas W. Ethell, Harpreet Sidhu
Chapter 16 - Ion Channel Dysfunction and FXS, Pages 323-340, Andreas Frick, Melanie Ginger, Lynda El-Hassar, Leonard K. Kaczmarek
Chapter 17 - Reactivation of the FMR1 Gene, Pages 341-360, Elisabetta Tabolacci, Pietro Chiurazzi
Chapter 18 - Drug Discovery for Targeted Pharmacotherapy of Fragile X Syndrome, Pages 363-399, Sebastian S. Scharf, Fabrizio Gasparini, Will Spooren, Lothar Lindemann
Chapter 19 - Overview of Targeted Double-Blind, Placebo-Controlled Clinical Trials in Fragile X Syndrome, Pages 401-418, Andrew Ligsay, Randi Hagerman, Elizabeth Berry-Kravis
Chapter 20 - Reflections on Clinical Trials in Fragile X Syndrome, Pages 419-441, Aia E. Jønch, Sébastien Jacquemont
Chapter 21 - Outcome Measures in Clinical Trials for Fragile X Syndrome: The Search for Sensitive Neurocognitive Assays, Pages 443-455, Jacalyn Guy, Gaia Scerif
Chapter 22 - Fragile X Research From a Parental Perspective, Pages 457-470, Jörg Richstein, Jeffrey Cohen, Becky Hardiman
Index, Pages 471-484