Modeling Fragile X Syndrome


Modeling Fragile X Syndrome
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Modeling Fragile X Syndrome


Modeling Fragile X Syndrome
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Author : Robert B. Denman
language : en
Publisher: Springer Science & Business Media
Release Date : 2014-07-08

Modeling Fragile X Syndrome written by Robert B. Denman and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-08 with Science categories.


Introduction.-Probing Astrocyte Function in Fragile X Syndrome.- Neural Stem Cells.- Fragile X Mental Retardation Protein (FMRP) and the Spinal Sensory System.– The Role of the Postsynaptic Density in the Pathology of the Fragile X Syndrome.- Behavior in a Drosophila model of Fragile X.- Molecular and Genetic Analysis of the Drosophila Model of Fragile X Syndrome.- Fragile X Mental Retardation Protein and Stem Cells.- Manipulating the Fragile X Mental Retardation Proteins in the Frog.- Exploring the Zebra finch Taeniopygia gutta as a Novel Animal Model for the Speech-language Deficit of Fragile X Syndrome.- Neuroendocrine Alterations in the Fragile X Mouse.- Taking STEPs forward to understanding Fragile X Syndrome.- Fmr-1 as an Offspring Genetic and a Maternal Environmental Factor in Neurodevelopmental Disease.- Mouse Models of the Fragile X Premutation and the Fragile X Associated Tremor/Ataxia Syndrome.- Clinical Aspects of the Fragile X Syndrome.- Fragile X Syndrome: A Psychiatric Perspective.- Fragile X Syndrome and Targeted Treatment Trials.- The Fragile X-associate Tremor Ataxia Syndrome.- Vignettes: Models in Absentia.



Modeling Fragile X Syndrome


Modeling Fragile X Syndrome
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Author :
language : en
Publisher:
Release Date : 2003

Modeling Fragile X Syndrome written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with categories.




Fragile X Syndrome


Fragile X Syndrome
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Author : Dalit Ben-Yosef
language : en
Publisher: Humana Press
Release Date : 2019-03-08

Fragile X Syndrome written by Dalit Ben-Yosef and has been published by Humana Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-03-08 with Science categories.


This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS. Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.



Fragile X Syndrome


Fragile X Syndrome
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Author : Dalit Ben-Yosef
language : en
Publisher:
Release Date : 2019

Fragile X Syndrome written by Dalit Ben-Yosef and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Fragile X syndrome categories.




Fragile X Syndrome


Fragile X Syndrome
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Author : Rob Willemsen
language : en
Publisher: Academic Press
Release Date : 2017-05-26

Fragile X Syndrome written by Rob Willemsen and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-26 with Science categories.


Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome Written for academic researchers, pharmaceutical investigators, and clinicians in the field Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians



Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability


Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability
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Author : Carlo Sala
language : en
Publisher: Academic Press
Release Date : 2016-04-30

Neuronal And Synaptic Dysfunction In Autism Spectrum Disorder And Intellectual Disability written by Carlo Sala and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-30 with Medical categories.


Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals communicate and relate to others and their surroundings. In addition, three quarters of ASD patients also manifest severe intellectual disability. Though certain genes have been implicated, ASDs remain largely a mystery, and research looking into causes and cellular deficits are crucial for better understanding of neurodevelopmental disorders. Despite the prevalence and insidious nature of this disorder, this book remains to be an extensive resource of information and background on the state of current research in the field. The book serves as a reference for this purpose, and discusses the crucial role synaptic activity plays in proper brain function. In addition, the volume discusses the neurodevelopmental synaptopathies and serves as a resource for scientists and clinicians in all biomedical science specialties. This research has been crucial for recent studies that have provided a rationale for the development of pharmacological agents able to counteract functional synaptic anomalies and potentially ameliorate some ASD symptoms. Introduces the genetic and non-genetic causes of autism and associated intellectual disabilities Describes the genes implicated in autistic spectrum disorders and their function Considers major individual genetic causes of autism, Rett syndrome, Fragile X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology in vitro and in vivo, including animal models and patient-derived stem cell culture



The Causes Of Epilepsy


The Causes Of Epilepsy
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Author : Simon Shorvon
language : en
Publisher: Cambridge University Press
Release Date : 2019-05-02

The Causes Of Epilepsy written by Simon Shorvon and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-02 with Medical categories.


Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.



Fragile X Syndrome


Fragile X Syndrome
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Author : Randi Jenssen Hagerman
language : en
Publisher: JHU Press
Release Date : 2002-05-17

Fragile X Syndrome written by Randi Jenssen Hagerman and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002-05-17 with Medical categories.


Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents information on treatment.



Epigenetics In Psychiatry


Epigenetics In Psychiatry
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Author : Jacob Peedicayil
language : en
Publisher: Academic Press
Release Date : 2021-08-21

Epigenetics In Psychiatry written by Jacob Peedicayil and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-08-21 with Science categories.


Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) Features chapter contributions from international leaders in the field



Cassidy And Allanson S Management Of Genetic Syndromes


Cassidy And Allanson S Management Of Genetic Syndromes
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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27

Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.


MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.