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| Author | : Simon Shorvon |
| Publisher | : Cambridge University Press |
| Total Pages | : 1013 |
| Release | : 2019-05-02 |
| Genre | : Medical |
| ISBN | : 1108420753 |
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
| Author | : Dalit Ben-Yosef |
| Publisher | : Humana Press |
| Total Pages | : 192 |
| Release | : 2019-03-08 |
| Genre | : Science |
| ISBN | : 9781493990795 |
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.
| Author | : Carlo Sala |
| Publisher | : Academic Press |
| Total Pages | : 396 |
| Release | : 2016-04-30 |
| Genre | : Medical |
| ISBN | : 0128005335 |
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
| Author | : Anne Skomorowsky |
| Publisher | : Columbia University Press |
| Total Pages | : 118 |
| Release | : 2022-05-03 |
| Genre | : Medical |
| ISBN | : 0231552289 |
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.
| Author | : Randi Jenssen Hagerman |
| Publisher | : JHU Press |
| Total Pages | : 562 |
| Release | : 2002-05-17 |
| Genre | : Medical |
| ISBN | : 9780801868436 |
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.
| Author | : Jacob Peedicayil |
| Publisher | : Elsevier |
| Total Pages | : 664 |
| Release | : 2014-06-23 |
| Genre | : Science |
| ISBN | : 0124171346 |
Epigenetics in Psychiatry 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 potentially very important and useful area of psychiatry. The elucidation of basic principles of epigenetic biology points to the creation of more optimal and effective therapies for major classes of psychiatric disease. In this regard, epigenetic therapy, the use of drugs to correct epigenetic defects, may help in the pharmacotherapy of patients with these disorders. With time, such advances may eventually point to replacements for psychotropic drugs presently of symptomatic value and low efficacy. Moreover, there is evidence to suggest that other forms of treatment commonly used in the management of psychiatric disorders, like psychotherapy and electroconvulsive therapy, may also act by epigenetic mechanisms. Chapters review fascinating new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics through drug addiction Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and protein Catalyzes knowledge discovery in both basic epigenetic biology and clinical application as epigenetic targets for drug discovery
| Author | : Randi Jenssen Hagerman |
| Publisher | : |
| Total Pages | : 481 |
| Release | : 1996 |
| Genre | : Fragile X syndrome |
| ISBN | : 9780801853883 |
This new edition of Fragile X Syndrome includes updated information on the latest research findings -- especially in molecular biology -- as well as new photographs highlighting clinical features and thorough coverage of treatment and intervention, diagnosis, and research. Praise for the first edition: "Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome....Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition." -- Lancet "The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them." -- New England Journal of Medicine
| Author | : Gail Harris-Schmidt |
| Publisher | : |
| Total Pages | : 170 |
| Release | : 2004 |
| Genre | : Medical |
| ISBN | : |
| Author | : Isabel Fernández Carvajal |
| Publisher | : Jessica Kingsley Publishers |
| Total Pages | : 114 |
| Release | : 2011 |
| Genre | : Health & Fitness |
| ISBN | : 1843109913 |
Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. 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.
| Author | : Joanne Erwick Roberts |
| Publisher | : CLI |
| Total Pages | : 332 |
| Release | : 2008 |
| Genre | : Medical |
| ISBN | : |
Written by leading experts, this is the most up-to-date resource on speech and language assessment and intervention for professionals working with infants to adults with Down Syndrome and Fragile X Syndrome.
