Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability

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Publisher : Academic Press
ISBN 13 : 0128005335
Total Pages : 394 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability by : Carlo Sala

Download or read book Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability written by Carlo Sala and published by Academic Press. This book was released on 2016-04-30 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

A Time for Metabolism and Hormones

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Publisher : Springer
ISBN 13 : 3319270699
Total Pages : 132 pages
Book Rating : 4.3/5 (192 download)

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Book Synopsis A Time for Metabolism and Hormones by : Paolo Sassone-Corsi

Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.

Autism Spectrum Disorders

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Publisher :
ISBN 13 :
Total Pages : 117 pages
Book Rating : 4.:/5 (128 download)

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Book Synopsis Autism Spectrum Disorders by : Andreas M. Grabrucker

Download or read book Autism Spectrum Disorders written by Andreas M. Grabrucker and published by . This book was released on 2021 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.

Cognitive Plasticity in Neurologic Disorders

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Publisher : Oxford University Press, USA
ISBN 13 : 0199965242
Total Pages : 433 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Cognitive Plasticity in Neurologic Disorders by : Joseph I. Tracy

Download or read book Cognitive Plasticity in Neurologic Disorders written by Joseph I. Tracy and published by Oxford University Press, USA. This book was released on 2014-12-02 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume makes clear that the cognitive and behavioural symptoms of neurologic disorders and syndromes are dynamic and changing. Each chapter describes the neuroplastic processes at work in a particular condition, giving rise to these ongoing cognitive changes.

Neural and Synaptic Defects in Autism Spectrum Disorders

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Publisher : Frontiers Media SA
ISBN 13 : 2889196283
Total Pages : 287 pages
Book Rating : 4.8/5 (891 download)

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Book Synopsis Neural and Synaptic Defects in Autism Spectrum Disorders by : Hansen Wang

Download or read book Neural and Synaptic Defects in Autism Spectrum Disorders written by Hansen Wang and published by Frontiers Media SA. This book was released on 2015-07-07 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASDs) are a group of genetically and clinically heterogeneous neurodevelopmental disorders characterized by impaired reciprocal social interactions and communication, and restricted and repetitive patterns of behaviors and interests. Studies in genetics, neurobiology and systems biology are providing insights into the pathogenesis of ASDs. Investigation of neural and synaptic defects in ASDs not only sheds light on the molecular and cellular mechanisms that govern the function of the central nervous system, but may lead to the discovery of potential therapeutic targets for autism and other cognitive disorders. Our Research Topic which constitutes this e-book documents the recent development and ideas in the study of pathogenesis and treatment of ASDs, with an emphasis on syndromic disorders such as fragile X and Rett syndromes. In addition, model systems and methodological approaches with translational relevance to autism are covered herein. We hope that the Research Topic will enhance the global knowledge base in the autism research community and foster new research directions in autism related biology.

Developmental Neuropathology

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Publisher : Springer Science & Business Media
ISBN 13 : 3642736971
Total Pages : 591 pages
Book Rating : 4.6/5 (427 download)

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Book Synopsis Developmental Neuropathology by : Reinhard L. Friede

Download or read book Developmental Neuropathology written by Reinhard L. Friede and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.

Homeostatic Control of Brain Function

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Publisher : Oxford University Press
ISBN 13 : 0199322295
Total Pages : 657 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Homeostatic Control of Brain Function by : Detlev Boison

Download or read book Homeostatic Control of Brain Function written by Detlev Boison and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: Homeostatic Control of Brain Function offers a broad view of brain health and diverse perspectives for potential treatments, targeting key areas such as mitochondria, the immune system, epigenetic changes, and regulatory molecules such as ions, neuropeptides, and neuromodulators. Loss of homeostasis becomes expressed as a diverse array of neurological disorders. Each disorder has multiple comorbidities - with some crossing over several conditions - and often disease-specific treatments remain elusive. When current pharmacological therapies result in ineffective and inadequate outcomes, therapies to restore and maintain homeostatic functions can help improve brain health, no matter the diagnosis. Employing homeostatic therapies may lead to future cures or treatments that address multiple comorbidities. In an age where brain diseases such as Alzheimer's or Parkinson's are ever present, the incorporation of homeostatic techniques could successfully promote better overall brain health. Key Features include · A focus on the homeostatic controls that significantly depend on the way one lives, eats, and drinks. · Highlights from emerging research in non-pharmaceutical therapies including botanical medications, meditation, diet, and exercise. · Incorporation of homeostatic therapies into existing basic and clinical research paradigms. · Extensive scientific basic and clinical research ranging from molecules to disorders. · Emerging practical information for improving homeostasis. · Examples of homeostatic therapies in preventing and delaying dysfunction. Both editors, Detlev Boison and Susan Masino, bring their unique expertise in homeostatic research to the overall scope of this work. This book is accessible to all with an interest in brain health; scientist, clinician, student, and lay reader alike.

Jasper's Basic Mechanisms of the Epilepsies

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Publisher : OUP USA
ISBN 13 : 0199746540
Total Pages : 1258 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Jasper's Basic Mechanisms of the Epilepsies by : Jeffrey L. Noebels

Download or read book Jasper's Basic Mechanisms of the Epilepsies written by Jeffrey L. Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.

Autism Spectrum Disorder

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Publisher : BoD – Books on Demand
ISBN 13 : 9535120379
Total Pages : 380 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Autism Spectrum Disorder by : Michael Fitzgerald

Download or read book Autism Spectrum Disorder written by Michael Fitzgerald and published by BoD – Books on Demand. This book was released on 2015-04-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book starts with a new sub category of Autism Criminal Autistic Psychopathy and school shootings. It focuses on a number of interventions, including speech and language pathology, speech and language assessment instruments, occupational therapy, improving functional language development in autism with natural gestures, communication boards etc as well as helping people with autism using the pictorial support, training of concepts of significant others, theory of mind, social concepts and a conceptual model for empowering families of children with autism cross culturally. It also examines the issue of hyperandrogenism and evidence-based treatments of autism. In terms of assessment, it focuses on psychological and biological assessment including neurotransmitters systems, structural and functional brain imaging, coping strategies of parents, examines the intertwining of language impairment, specific language impairment and ASD, as well as implicit and spontaneous Theory of Mind reading in ASD. In terms of aetiology, it focuses on genetic factors, epigenetics, synaptic vesicles, toxicity during neurodevelopment, immune system and sex differences. It also examines the link between social cognitive anatomical and neurophysiologic biomarkers and candidate genes. This book will be relevant to all mental health professionals because autism occurs in all the different areas of psychiatry and professionals who will find it helpful will be psychiatrists, psychologists, social workers, nurses, teachers and all those working with persons with Autism including parents who nowadays are interested in knowing more and more, at a detailed level about their children or adults with autism.

Comprehensive Guide to Autism

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Publisher : Springer
ISBN 13 : 9781461447870
Total Pages : 0 pages
Book Rating : 4.4/5 (478 download)

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Book Synopsis Comprehensive Guide to Autism by : Vinood B. Patel

Download or read book Comprehensive Guide to Autism written by Vinood B. Patel and published by Springer. This book was released on 2013-10-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is a complex multifaceted disorder affecting neurodevelopment during the early years of life and, for many, throughout the life span. Inherent features include difficulties or deficits in communication, social interaction, cognition, and interpersonal behavioral coordination, to name just a few. Autism profoundly impacts the affected individual, the family, and, in many cases, the localized communities. The increased prevalence of childhood autism has resulted in rapid developments in a wide range of disciplines in recent years. Nevertheless, despite intensive research, the cause(s) remain unresolved and no single treatment strategy is employed. To address these issues, Comprehensive Guide to Autism is an all-embracing reference that offers analyses and discussions of contemporary issues in the field of autism. The work brings together scientific material from leading experts in the field relating to a wide range of important current topics, such as the early identification and treatment of children with autism, pertinent social and behavioral studies, recent developments in genetics and immunology, the influence of diet, models of autism, and future treatment prospects. Comprehensive Guide to Autism contains essential readings for behavioral science researchers, psychologists, physicians, social workers, parents, and caregivers.

The Neuroscience of Autism Spectrum Disorders

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Publisher : Academic Press
ISBN 13 : 012391924X
Total Pages : 494 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis The Neuroscience of Autism Spectrum Disorders by : Joseph D. Buxbaum

Download or read book The Neuroscience of Autism Spectrum Disorders written by Joseph D. Buxbaum and published by Academic Press. This book was released on 2012-10-25 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is no longer considered a rare disease, and the Center for Disease Control now estimates that upwards of 730,000 children in the US struggle with this isolating brain disorder. New research is leading to greater understanding of and ability to treat the disorder at an earlier age. It is hoped that further genetic and imaging studies will lead to biologically based diagnostic techniques that could help speed detection and allow early, more effective intervention. Edited by two leaders in the field, this volume offers a current survey and synthesis of the most important findings of the neuroscience behind autism of the past 20 years. With chapters authored by experts in each topic, the volume explores etiology, neuropathology, imaging, and pathways/models. Offering a broad background of ASDs with a unique focus on neurobiology, the volume offers more than the others on the market with a strictly clinical focus or a single authored perspective that fails to offer expert, comprehensive coverage. Researchers and graduate students alike with an interest in developmental disorders and autism will benefit, as will autism specialists across psychology and medicine looking to expand their expertise. Uniquely explores ASDs from a neurobiological angle, looking to uncover the molecular/cellular basis rather than to merely catalog the commonly used behavioral interventions Comprehensive coverage synthesizes widely dispersed research, serving as one-stop shopping for neurodevelopmental disorder researchers and autism specialists Edited work with chapters authored by leaders in the field around the globe - the broadest, most expert coverage available

Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders

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Publisher : Academic Press
ISBN 13 : 0444641955
Total Pages : 232 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders by :

Download or read book Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders written by and published by Academic Press. This book was released on 2018-11-14 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Models and Molecular Pathways Underlying Autism Spectrum Disorders, Volume 241 provides the most recent information on the animal model systems that are available to study different forms of autism spectrum disorders. In addition to genetically engineered animals that uniquely model genetic forms of ASD, this volume also provides detailed chapters on a variety of specific topics, including An overview of genetic models of ASDs, Phenotypic modeling of ASD symptoms, Molecular mechanisms of NF1 model of ASD symptoms, Ube3a gene dosage disorders: molecular and circuit mechanisms of ASD, Circuit dysfunctions in ASD models, ERK signaling in genetic models of ASD, and more. Presents a timely, comprehensive assessment of the field Includes helpful summaries on current knowledge, gaps and future directions in autism research

Autism Spectrum Disorder

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Publisher : BoD – Books on Demand
ISBN 13 : 1838810056
Total Pages : 196 pages
Book Rating : 4.8/5 (388 download)

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Book Synopsis Autism Spectrum Disorder by : Michael Fitzgerald

Download or read book Autism Spectrum Disorder written by Michael Fitzgerald and published by BoD – Books on Demand. This book was released on 2021-06-09 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorder (ASD) is a complex condition that has extreme heterogeneity, which makes it extremely challenging from a diagnostic and etiological point of view. To add to the complexity, ASD typically has co-morbidity and overlap with other conditions outlined in this book, including epilepsy, attention-deficit/hyperactivity disorder (ADHD), and others. This book also examines monocyte cytokine profiles and catecholamines in ASD, genetic studies of autism, treatments, and controversial issues.

Autism Spectrum Disorders

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Publisher : BoD – Books on Demand
ISBN 13 : 9533074957
Total Pages : 214 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis Autism Spectrum Disorders by : Stephen Deutsch

Download or read book Autism Spectrum Disorders written by Stephen Deutsch and published by BoD – Books on Demand. This book was released on 2011-08-01 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.

The Neurobiology of Autism

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Publisher : JHU Press
ISBN 13 : 9780801880476
Total Pages : 428 pages
Book Rating : 4.8/5 (84 download)

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Book Synopsis The Neurobiology of Autism by : Margaret L. Bauman

Download or read book The Neurobiology of Autism written by Margaret L. Bauman and published by JHU Press. This book was released on 2005 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the decade since the first edition of The Neurobiology of Autism was published, research has revealed valuable new information about the nature and origins of autism, including genetics and abnormalities in such neurotransmitters as acetylcholine and serotonin. For this long-anticipated new edition, neurologists Margaret L. Bauman and Thomas L. Kemper bring together leading researchers and clinicians to present the most current scientific knowledge and theories about autism. The contributors cover genetics, imaging studies, physiology, neuroanatomy and neurochemistry, immunology, brain function, the epidemiology of the disease, and related disorders. Thoroughly updated, The Neurobiology of Autism remains the best single-volume work on the wide array of research being conducted into the causes, characteristics, and treatment of autism. Contributors: George M. Anderson, Yale Child Study Center; Tara L. Arndt, University of Rochester Medical Center (URMC); Trang Au, University of Massachusetts Medical School (UMMC); Jocelyne Bachevalier, University of Texas Health Science Center; Irina N. Bespalova, Seaver Autism Research Center, Mt. Sinai School of Medicine (SARC); Gene J. Blatt, Boston University School of Medicine (BUSM); Susan E. Bryson, IWK Health Centre–Dalhousie University; Timothy M. Buie, Massachusetts General Hospital (MGH); Joseph D. Buxbaum, SARC; Kathryn M. Carbone, The Johns Hopkins University School of Medicine (JHUSM); Diane C. Chugani, Wayne State University; Daniel F. Connor, UMMC; Edwin H. Cook, Jr., University of Chicago; S. Hossein Fatemi, University of Minnesota Medical School; Susan E. Folstein, Tufts University School of Medicine; Eric Fombonne, McGill University; Randi Jenssen Hagerman, UC Davis Medical Center; Elizabeth Petri Henske, Fox Chase Cancer Center, Philadelphia; Jeannette J. A. Holden, Queen's University; Ronald J. Killiany, BUSM; Omanand Koul, UMMC; Mandy Lee, Newcastle General Hospital, U.K.; Xudong Liu, Queen's University; Tara L. Moore, BUSM; Mark B. Moss, BUSM; Karin B. Nelson, National Institute of Neurological Disorders and Stroke; Phillip G. Nelson, National Institute of Child Health and Human Development; Elaine Perry, Newcastle General Hospital; Jonathan Pevsner, JHUSM; Mikhail V. Pletnikov, JHUSM; Stephen W. Porges, University of Illinois at Chicago; Lucio Rehbein, Universidad de la Frontera, Chile; Jennifer Reichert, SARC; Patricia M. Rodier, URMC; Beth Rosen-Sheidley, MGH; Susan L. Smalley, UCLA Neuropsychiatric Research Institute; Ronald J. Steingard, UMMC; Helen Tager-Flusberg, BUSM; Gary L. Wenk, University of Arizona; Andrew W. Zimmerman, JHUSM

Shankopathies: Shank Protein Deficiency-Induced Synaptic Diseases

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Publisher : Frontiers Media SA
ISBN 13 : 2889635678
Total Pages : 231 pages
Book Rating : 4.8/5 (896 download)

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Book Synopsis Shankopathies: Shank Protein Deficiency-Induced Synaptic Diseases by : Elodie Ey

Download or read book Shankopathies: Shank Protein Deficiency-Induced Synaptic Diseases written by Elodie Ey and published by Frontiers Media SA. This book was released on 2020-03-10 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Sleep Disorders in Children

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Publisher : Springer
ISBN 13 : 3319286404
Total Pages : 422 pages
Book Rating : 4.3/5 (192 download)

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Book Synopsis Sleep Disorders in Children by : Soňa Nevšímalová

Download or read book Sleep Disorders in Children written by Soňa Nevšímalová and published by Springer. This book was released on 2016-10-03 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is both an exam guide to children ́s sleep medicine and a practical manual for diagnosis and management of sleep disorders in children. An overview of the most frequent sleep disorders encountered in newborns, infants, children and adolescents is provided. This book discusses the main sleep disorders in detail, including insomnia, respiratory disturbances, movement disorders during sleep, circadian rhythm disorders, parasomnias, and disorders associated with increased sleepiness. It also covers sleep disorders associated with neurological, psychiatric, and medical diseases. This book is divided into two parts. The first part is an introduction to childhood sleep physiology and pathology, epidemiology of sleep disorders, and diagnostic procedures. The second part describes the most frequent sleep disorders in greater depth. Sleep Disorders in Children is aimed at sleep researchers, pediatricians, child neurologists and child psychiatrists, as well as patient organizations and families with affected children.