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Book Genetics of Movement Disorders

Download or read book Genetics of Movement Disorders written by Stefan M. Pulst and published by Elsevier. This book was released on 2002-10-25 with total page 585 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and many areas of basic and applied neuroscience research. Describing the current knowledge on these disorders, Genetics of Movement Disorders brings together information essential for clinicians, geneticists, and neuroscientists in one source. Utilizing a convenient and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia, and major categories of diseases grouped by gene locus. This book broadly appeals to neurologists, neuroscientists, geneticists, as well as cell and molecular biologists and hematologists. Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models Emphasizes the use of DNA tests for each respective disorder Provides up-to-date, easily accessible information for clinicians, geneticists, and neuroscientists

Book Neurogenetics

    Book Details:
  • Author : Stefan-M. Pulst
  • Publisher : Contemporary Neurology
  • Release : 2000
  • ISBN : 9780195129755
  • Pages : 496 pages

Download or read book Neurogenetics written by Stefan-M. Pulst and published by Contemporary Neurology. This book was released on 2000 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Book Cerebellar Disorders

    Book Details:
  • Author : Mario Ubaldo Manto
  • Publisher : Cambridge University Press
  • Release : 2010-03-25
  • ISBN : 1139487264
  • Pages : 313 pages

Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

Book Marsden s Book of Movement Disorders

Download or read book Marsden s Book of Movement Disorders written by Ivan Donaldson and published by Oxford University Press. This book was released on 2012-03-29 with total page 1512 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book represents the final work of the late Professor C. David Marsden, who was the most influential figure in the field of movement disorders, in terms of his contributions to both research and clinical practice, in the modern era. It was conceived and written by David Marsden and his colleague at the Institute of Neurology, Prof. Ivan Donaldson. It was their intention that this would be the most comprehensive book on movement disorders and also that it would serve as the 'clinical Bible' for the management of these conditions. It provides a masterly survey of the entire topic, which has been made possible only by vast laboratory and bedside experience. Marsden's Book of Movement Disorders covers the full breadth of movement disorders, from the underlying anatomy and understanding of basal ganglia function to the diagnosis and management of specific movement disorders, including the more common conditions such as Parkinson's Disease through to rare, and very rare conditions such as Niemann-Pick disease. Chapters follow a structured format with historical overviews, definitions, clinical features, differential diagnosis, investigations and treatment covered in a structured way. It is extensively illustrated with many original photographs and diagrams of historical significance. Among these illustrations are still images of some original film clips of some of Dr. Marsden's patients published here for the first time. Comprehensively referenced and updated by experts from the Institute of Neurology at Queen Square, this book is a valuable reference for, not just movement disorder specialists and researchers, but also for clinicians who care for patients with movement disorders.

Book Encyclopedia of Movement Disorders

Download or read book Encyclopedia of Movement Disorders written by and published by Academic Press. This book was released on 2010-02-26 with total page 1633 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Encyclopedia of Movement Disorders is a comprehensive reference work on movement disorders, encompassing a wide variety of topics in neurology, neurosurgery, psychiatry and pharmacology. This compilation will feature more than 300 focused entries, including sections on different disease states, pathophysiology, epidemiology, genetics, clinical presentation, diagnostic tools, as well as discussions on relevant basic science topics. This Encyclopedia is an essential addition to any collection, written to be accessible for both the clinical and non-clinical reader. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in the laboratory to the clinical features, pathophysiology and treatment of movement disorders. The Encyclopedia targets a broad readership, ranging from students to general physicians, basic scientists and Movement Disorder specialists. Published both in print and via Elsevier’s online platform of Science Direct, this Encyclopedia will have the enhanced option of integrating traditional print with online multimedia. Connects experimental findings made in the laboratory to the clinical features, pathophysiology, and treatment of movement disorders Encompasses a wide variety of topics in neurology neurosurgery, psychiatry, and pharmacology Written for a broad readership ranging from students to general physicians, basic scientists, and movement disorder specialists

Book Twelve Steps and Twelve Traditions   Sexual Compulsives Anonymous  SCA

Download or read book Twelve Steps and Twelve Traditions Sexual Compulsives Anonymous SCA written by International Service Organization of Sexual Compulsives, Inc. and published by International Service Organization of Sexual Compulsives Anonymous, Inc.. This book was released on 2021-08-05 with total page 90 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains commentaries on the Twelve Step and Twelve Traditions as adapted from the original principles of Alcoholics Anonymous, as written by members of Sexual Compulsives Anonymous (SCA). They provide experience, strength, and hope in working the Twelve Steps and practical wisdom in the observance of the Twelve Traditions. The primary focus of recovery in SCA is establishing the boundaries between healthy sex and intimacy and the compulsive behaviors that ultimately caused many of the same problems for SCA members as alcohol did for AA members. Nevertheless, the principles developed by AA in the Twelve Steps and Twelve Traditions, diligently applied, provide a spiritual foundation for recovery in SCA. Keywords: 12-Step Recovery, Sex Addiction, Sexual Compulsion, Compulsive Masturbation, Spirituality, Anonymous Sex, Romantic Obsession

Book SCA  A Program of Recovery   3rd Edition  Revised and Expanded

Download or read book SCA A Program of Recovery 3rd Edition Revised and Expanded written by International Service Organization of Sexual Compulsives Anonymous, Inc. and published by International Service Organization of Sexual Compulsives Anonymous, Inc... This book was released on 2021-08-11 with total page 378 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains more than four decades of experience, strength, and hope in recovery from sexual compulsion. It has been written, edited, and published entirely by members of Sexual Compulsives Anonymous (SCA). This 3rd edition is an expanded and updated version of SCA’s previous recovery book. It includes commentaries on the Twelve Steps and Twelve Traditions as adapted from the original principles of Alcoholics Anonymous, as written by members of SCA. They provide context for working the Twelve Steps and practical wisdom in the observance of the Twelve Traditions. This version also contains new commentaries on The Characteristics Most of Us Seem to Have in Common, an early work that SCA members developed in the 1980s. The book begins with a Foreword written by Alexandra Katehakis, Ph.D., who is a Clinical Sexologist and Founder of the Center for Healthy Sex. She is the author of numerous books on sex addiction and intimacy issues. This edition addresses the individual in recovery and then discusses how SCA members recover together in groups and the fellowship at large. There are also chapters on sexual anorexia and pornography, apps, and internet addiction that SCA developed to address the fellowship’s changing needs. After extensive revisions, many separately released SCA publications, including Moving Through Withdrawal, Avoiding Common Pitfalls, Secret Shame, etc., have chapters in this edition. Other chapters from the SCA: A Program of Recovery, 2nd edition, were revised and updated before inclusion in this edition. These sections address designing a sexual recovery plan, sponsorship, the telephone as a recovery tool, compulsive masturbation, abstinence, and ways to avoid a “slip.” The chapters on individual recovery conclude with SCA’s version of The Promises of Alcoholics Anonymous: The Gifts of Recovery. The group recovery section has updated chapters on starting an SCA meeting, what happens at SCA meetings, and doing service in SCA. Origins of SCA, which are stories written by some of SCA’s founders, appear unchanged from the previous edition. This book also contains twenty-eight (28) stories of individual recovery, written by various SCA members. Keywords: 12-Step Recovery, Sex Addiction, Sexual Compulsion, Compulsive Masturbation, Spirituality, Anonymous Sex, Romantic Obsession, Sexual Sobriety, Pornography, Apps, Webcams, Recovery from Shame, Withdrawal, Sponsorship, Abstinence, Anorexia, Low Self-esteem

Book Handbook of the Cerebellum and Cerebellar Disorders

Download or read book Handbook of the Cerebellum and Cerebellar Disorders written by Mario Manto and published by Springer. This book was released on 2012-08-04 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our knowledge of cerebellar functions and cerebellar disorders, called ataxias, is increasing considerably. Studies of the cerebellum are now a central focus in neuroscience. During the last four decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and biology of mental processes, behavioral symptoms, and emotion. It is now accepted that the cerebellum acts as a cognitive operator in learning, perception, and attention. Moreover, major improvements in our assessment of in vivo cerebellar architecture using imaging techniques have occurred. A typical example is the accurate description of cerebellar anatomy during fetal development with MRI, a progress which has direct impacts on patient care. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias. More than 20 new genes have been identified these last 10 years. Only for dominant ataxias, more than 30 diseases have now been unravelled. The number of ataxic disorders will increase with aging, the cerebellum being the structure of the brain with the most important loss of neurons with age. More than 300 different cerebellar disorders are encountered during daily practice, but we are missing a single source of information explaining their pathogenesis. Despite the immense amount of knowledge acquired about the cerebellar circuitry these last years, a large book covering the neuroscience of the cerebellum is missing. The goal of this endeavour is to bring up to date information relevant for basic science and also for clinical activities. To reach this goal, the most renowned authors are gathered in a unique and in-depth book with a format of a handbook. We emphasize the connections between molecular findings, imaging features, behavioural/neuropsychological aspects, and clinical implications.

Book Inherited Chorioretinal Dystrophies

Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

Book Spinocerebellar Ataxia Type 12  SCA 12   Clinical Features and Pathogenetic Mechanisms

Download or read book Spinocerebellar Ataxia Type 12 SCA 12 Clinical Features and Pathogenetic Mechanisms written by Ronald A. Merrill and published by . This book was released on 2012 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Spinocerebellar Ataxia Type 12 (SCA 12): Clinical Features and Pathogenetic Mechanisms.

Book Analysis of Financial Time Series

Download or read book Analysis of Financial Time Series written by Ruey S. Tsay and published by John Wiley & Sons. This book was released on 2010-10-26 with total page 724 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a broad, mature, and systematic introduction to current financial econometric models and their applications to modeling and prediction of financial time series data. It utilizes real-world examples and real financial data throughout the book to apply the models and methods described. The author begins with basic characteristics of financial time series data before covering three main topics: Analysis and application of univariate financial time series The return series of multiple assets Bayesian inference in finance methods Key features of the new edition include additional coverage of modern day topics such as arbitrage, pair trading, realized volatility, and credit risk modeling; a smooth transition from S-Plus to R; and expanded empirical financial data sets. The overall objective of the book is to provide some knowledge of financial time series, introduce some statistical tools useful for analyzing these series and gain experience in financial applications of various econometric methods.

Book Polyglutamine Disorders

    Book Details:
  • Author : Clévio Nóbrega
  • Publisher : Springer
  • Release : 2018-02-09
  • ISBN : 3319717790
  • Pages : 467 pages

Download or read book Polyglutamine Disorders written by Clévio Nóbrega and published by Springer. This book was released on 2018-02-09 with total page 467 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies’ development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression. Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntington’s disease (HD); spinal–bulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.

Book Smart but Scattered

    Book Details:
  • Author : Peg Dawson
  • Publisher : Guilford Press
  • Release : 2011-11-30
  • ISBN : 1606238809
  • Pages : 321 pages

Download or read book Smart but Scattered written by Peg Dawson and published by Guilford Press. This book was released on 2011-11-30 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: There's nothing more frustrating than watching your bright, talented son or daughter struggle with everyday tasks like finishing homework, putting away toys, or following instructions at school. Your "smart but scattered" 4- to 13-year-old might also have trouble coping with disappointment or managing anger. Drs. Peg Dawson and Richard Guare have great news: there's a lot you can do to help. The latest research in child development shows that many kids who have the brain and heart to succeed lack or lag behind in crucial "executive skills"--the fundamental habits of mind required for getting organized, staying focused, and controlling impulses and emotions. Learn easy-to-follow steps to identify your child's strengths and weaknesses, use activities and techniques proven to boost specific skills, and problem-solve daily routines. Helpful worksheets and forms can be downloaded and printed in a convenient 8 1/2" x 11" size. Small changes can add up to big improvements--this empowering book shows how. See also the authors' Smart but Scattered Teens and their self-help guide for adults. Plus, an academic planner for middle and high school students and related titles for professionals.

Book What about Masturbation

    Book Details:
  • Author : Sexual Compulsives Anonymous
  • Publisher : International Service Organization of SCA
  • Release : 1995
  • ISBN : 0962796638
  • Pages : 20 pages

Download or read book What about Masturbation written by Sexual Compulsives Anonymous and published by International Service Organization of SCA . This book was released on 1995 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sexual Compulsives Anonymous neither endorses nor opposes masturbation. Instead, we encourage each SCA member to define acceptable and unacceptable masturbation in that member’s sexual recovery plan.

Book Syndromes  Rapid Recognition and Perioperative Implications

Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Book National Human Rights Institutions

Download or read book National Human Rights Institutions written by David Langtry and published by Oxford University Press. This book was released on 2021 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: National Human Rights Institutions: Rules, Requirements, and Practice is an authoritative guide to National Human Rights Institutions (NHRI) in their important role as promoters and protectors of human rights at the national level. This book serves as both the first ever 'casebook' on the findings of the SCA, as well as a comprehensive reference for the requirements for compliance of NHRIs with the Paris Principles, and is a vital source of information on the actual practice of NHRIs. Since its earliest assessments of NHRIs in 1998, the Global Alliance of NHRIs' (GANHRI) Sub-Committee on Accreditation (SCA) has developed a substantive body of work that has examined the operation and practice of over 128 institutions in countries and territories from every part of the globe. Analysed and catalogued in their entirety into an accessible format for the first time, and covering all aspects of NHRIs' structure and functioning, as well as providing a thorough overview of how the SCA works in practice, this book is an indispensable resource for scholars and practitioners who wish to understand and learn how NHRIs operate at the national level, as well as what problems they face and ultimately, how they can be strengthened. Benefitting from the unique insight of David Langtry, a member of the SCA for 11 years, this book is an essential source for all those interested in the role of NHRIs, and more broadly, of all state-established institutions intended to function independently.