Fragile X Syndrome PDF Download

Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Fragile X Syndrome PDF full book. Access full book title Fragile X Syndrome.

Fragile X Syndrome

Fragile X Syndrome
Author: Rob Willemsen
Publisher: Academic Press
Total Pages: 498
Release: 2017-05-26
Genre: Science
ISBN: 0128045078

Download Fragile X Syndrome Book in PDF, ePub and Kindle

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


The Fragile X Syndrome

The Fragile X Syndrome
Author: Kay E. Davies
Publisher: Oxford University Press, USA
Total Pages: 150
Release: 1989
Genre: Language Arts & Disciplines
ISBN:

Download The Fragile X Syndrome Book in PDF, ePub and Kindle

This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome. The book includes the latest research findings concerning diagnosis on the basis of the appearance of a fragile site in cultured lymphocytes. It assumes little prior knowledge of the subject, and provides a clearly written, easy-to-understand discussion previously unavailable in a single reference source. The book will be of special interest to molecular biologists, cytogeneticists, medical geneticists, and clinicians and other professionals working with the mentally handicapped.


Understanding Fragile X Syndrome

Understanding Fragile X Syndrome
Author: Isabel Fernández Carvajal
Publisher: Jessica Kingsley Publishers
Total Pages: 114
Release: 2011-08-15
Genre: Health & Fitness
ISBN: 0857004379

Download Understanding Fragile X Syndrome Book in PDF, ePub and Kindle

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.


The Causes of Epilepsy

The Causes of Epilepsy
Author: Simon Shorvon
Publisher: Cambridge University Press
Total Pages: 1013
Release: 2019-05-02
Genre: Medical
ISBN: 1108420753

Download The Causes of Epilepsy Book in PDF, ePub and Kindle

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
Author: Dalit Ben-Yosef
Publisher: Humana Press
Total Pages: 192
Release: 2019-03-08
Genre: Science
ISBN: 9781493990795

Download Fragile-X Syndrome Book in PDF, ePub and Kindle

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.


Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
Author: Carlo Sala
Publisher: Academic Press
Total Pages: 396
Release: 2016-04-30
Genre: Medical
ISBN: 0128005335

Download Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability Book in PDF, ePub and Kindle

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 Carriers

The Carriers
Author: Anne Skomorowsky
Publisher: Columbia University Press
Total Pages: 118
Release: 2022-05-03
Genre: Medical
ISBN: 0231552289

Download The Carriers Book in PDF, ePub and Kindle

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.


Educating Children with Fragile X Syndrome

Educating Children with Fragile X Syndrome
Author: Denise Dew-Hughes
Publisher: Routledge
Total Pages: 209
Release: 2003-12-16
Genre: Education
ISBN: 1134378114

Download Educating Children with Fragile X Syndrome Book in PDF, ePub and Kindle

This book provides invaluable information, support and guidance on educating a child with Fragile X, background on the origins of this syndrome, and what the implications are for such a child's teaching and learning.


Fragile X Syndrome and Premutation Disorders

Fragile X Syndrome and Premutation Disorders
Author: Randi Jenssen Hagerman
Publisher:
Total Pages:
Release: 2020
Genre: Autism
ISBN: 9781911612384

Download Fragile X Syndrome and Premutation Disorders Book in PDF, ePub and Kindle

This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents.


Epigenetics in Psychiatry

Epigenetics in Psychiatry
Author: Jacob Peedicayil
Publisher: Academic Press
Total Pages: 848
Release: 2021-08-21
Genre: Science
ISBN: 0128235780

Download Epigenetics in Psychiatry Book in PDF, ePub and Kindle

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