Fragile-X Syndrome : Methods and Protocols - Ben-Yosef, Dalit; Mayshar, Yoav.; SpringerLink (Online service) (New York, NY : Springer New York : Imprint: Humana, 2019)
Fragile-X Syndrome: Introduction -- Clinical Genetic Testing for Fragile-X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses -- Monitoring for Epigenetic Modifications at the FMR1 Locus -- Assays for Determining Repeat Number, Methylation Status and AGG Interruptions in the Fragile X-Related Disorders -- One-Step Generation of Seamless Luciferase Gene Knock-In Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells -- Modeling FXS with Mouse Neural Progenitors -- Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric Diseases -- Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation -- Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders -- Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons -- Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons -- Application of Drosophila Model towards Understanding the Molecular Basis of Fragile-X Syndrome -- Comparing Mouse and Human-Based Models for Fragile-X Syndrome Pre-Clinical Research -- Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency -- Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS).
Keywords: Molecular biology; Neurology .; Human genetics; Molecular Medicine; Neurology; Human Genetics