The Fragile X Associated Tremor Ataxia Syndrome Fxtas

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The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

Author : Flora Tassone
Publisher : Springer Science & Business Media
ISBN 13 : 9781441958051
Total Pages : 188 pages
Book Rating : 4.9/5 (58 download)

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Book Synopsis The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) by : Flora Tassone

Download or read book The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) written by Flora Tassone and published by Springer Science & Business Media. This book was released on 2010-06-02 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt: In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

FXTAS, FXPOI, and Other Premutation Disorders

Author : Flora Tassone
Publisher : Springer
ISBN 13 : 3319338986
Total Pages : 293 pages
Book Rating : 4.3/5 (193 download)

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Book Synopsis FXTAS, FXPOI, and Other Premutation Disorders by : Flora Tassone

Download or read book FXTAS, FXPOI, and Other Premutation Disorders written by Flora Tassone and published by Springer. This book was released on 2016-11-17 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Fragile-X Syndrome

Author : Dalit Ben-Yosef
Publisher : Humana Press
ISBN 13 : 9781493990795
Total Pages : 192 pages
Book Rating : 4.9/5 (97 download)

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Book Synopsis Fragile-X Syndrome by : Dalit Ben-Yosef

Download or read book Fragile-X Syndrome written by Dalit Ben-Yosef and published by Humana Press. This book was released on 2019-03-08 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Causes of Epilepsy

Author : Simon Shorvon
Publisher : Cambridge University Press
ISBN 13 : 1108420753
Total Pages : 1013 pages
Book Rating : 4.1/5 (84 download)

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Book Synopsis The Causes of Epilepsy by : Simon Shorvon

Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.

The Carriers

Author : Anne Skomorowsky
Publisher : Columbia University Press
ISBN 13 : 0231552289
Total Pages : 118 pages
Book Rating : 4.2/5 (315 download)

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Book Synopsis The Carriers by : Anne Skomorowsky

Download or read book The Carriers written by Anne Skomorowsky and published by Columbia University Press. This book was released on 2022-05-03 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Allelic Forms of the FMR1 Gene

Author : Montserrat Milà
Publisher : Nova Science Publishers
ISBN 13 : 9781633219144
Total Pages : 0 pages
Book Rating : 4.2/5 (191 download)

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Book Synopsis Allelic Forms of the FMR1 Gene by : Montserrat Milà

Download or read book Allelic Forms of the FMR1 Gene written by Montserrat Milà and published by Nova Science Publishers. This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The FMR1 gene is an example of how a single gene can have different phenotypic effects. Indeed, since its discovery in 1991 it has revealed new facets: classic Fragile X syndrome (FXS), Fragile X premature ovarian insufficiency (FXPOI), Fragile X tremor-ataxia syndrome (FXTAS) and other emerging disorders from which we are continuously learning more about this gene. The chapters of this book provide an update of the different allelic forms of the FMR1 gene. Chapter 1 is a description of the classical Fragile X syndrome including clinical findings in males and females, the FMR1 gene, molecular bases, the FMRP protein, animal models, genetic counselling, new-born screening and diagnosis. Chapters 2 and 3 review the two main disorders associated with FMR1 premutation: FXPOI and FXTAS. FXPOI is a new clinical entity in which carrier premutation (PM) females present early ovarian dysfunction, with menopause occurring 5 years earlier than non-carrier family members. FXTAS is a late-onset inherited neuropsychiatric degenerative disorder that occurs predominantly in male carriers of the FMR1 premutation. Chapters 4 and 5 present the most recent advances in the current knowledge of other disorders associated with the FMR1 gene: Chapter 4 describes the psychopathological alterations of the different phenotypes associated with either premutation or full mutation. Chapter 5 is focused on the pathologies associated with the premutation such as fibromyalgia, thyroid disease and hypertension, among others. A comprehensive review of genetic counselling is done in Chapter 6 including all types of alleles related to the FMR1 gene and point mutations. Finally, although at present there is no treatment for any of these pathologies, an update of the clinical trials on therapies for all these FMR1 gene-related disorders and their current status is made in Chapter 7.

Ataxic Disorders

Author : Sankara H. Subramony
Publisher : Elsevier
ISBN 13 : 0444534946
Total Pages : 680 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Ataxic Disorders by : Sankara H. Subramony

Download or read book Ataxic Disorders written by Sankara H. Subramony and published by Elsevier. This book was released on 2011-09-21 with total page 680 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume’s primary goal is to provide a comprehensive understanding of recent developments and advancements in the study of ataxic disorders. Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies and neurological manifestations of ataxic disorders. Clinicians will gain a broader understanding of generative ataxias and the genetic disorders associated with them. In addition, new neurophysiological and imaging techniques are discussed, along with an in-depth examination of the treatment and management protocols of ataxic diseases. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

The Fragile X Syndrome

Author : Kay E. Davies
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 150 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Fragile X Syndrome by : Kay E. Davies

Download or read book The Fragile X Syndrome written by Kay E. Davies and published by Oxford University Press, USA. This book was released on 1989 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Isabel Fernández Carvajal
Publisher : Jessica Kingsley Publishers
ISBN 13 : 1843109913
Total Pages : 114 pages
Book Rating : 4.8/5 (431 download)

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Book Synopsis Understanding Fragile X Syndrome by : Isabel Fernández Carvajal

Download or read book Understanding Fragile X Syndrome written by Isabel Fernández Carvajal and published by Jessica Kingsley Publishers. This book was released on 2011 with total page 114 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Cerebellar Disorders

Author : Mario Ubaldo Manto
Publisher : Cambridge University Press
ISBN 13 : 1139487264
Total Pages : pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Cerebellar Disorders by : Mario Ubaldo Manto

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 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.

Neuropathology of Neurodegenerative Diseases

Author : Gabor G. Kovacs
Publisher : Cambridge University Press
ISBN 13 : 1316337650
Total Pages : 320 pages
Book Rating : 4.3/5 (163 download)

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Book Synopsis Neuropathology of Neurodegenerative Diseases by : Gabor G. Kovacs

Download or read book Neuropathology of Neurodegenerative Diseases written by Gabor G. Kovacs and published by Cambridge University Press. This book was released on 2017-12-13 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical guide to the diagnosis of neurodegenerative diseases discusses modern molecular techniques, morphological classification, fundamentals of clinical symptomology, diagnostic pitfalls and immunostaining protocols. It is based on the proteinopathy concept of neurodegenerative disease, which has influenced classification and provides new strategies for therapy. Numerous high-quality images, including histopathology photomicrographs and neuroradiology scans, accompany the description of morphologic alterations and interpretation of immunoreactivities. Diagnostic methods and criteria are placed within recent developments in neuropathology, including the now widespread application of immunohistochemistry. To aid daily practice, the guide includes diagnostic algorithms and offers personal insights from experienced experts in the field. Special focus is given to the way brain tissue should be handled during diagnosis. This is a must-have reference for medical specialists and specialist medical trainees in the fields of pathology, neuropathology and neurology working with neuropathologic features of neurodegenerative diseases.

Epigenetics in Psychiatry

Author : Jacob Peedicayil
Publisher : Academic Press
ISBN 13 : 0128235780
Total Pages : 848 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Epigenetics in Psychiatry by : Jacob Peedicayil

Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Neurogenetics

Author :
Publisher : Elsevier
ISBN 13 : 0444632352
Total Pages : 436 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Neurogenetics by :

Download or read book Neurogenetics written by and published by Elsevier. This book was released on 2018-01-08 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. Presents a comprehensive coverage of neurogenetics Details the latest science and impact on our understanding of neurological psychiatric disorders Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Medical Genetics for the MRCOG and Beyond

Author : Edward S. Tobias
Publisher : Cambridge University Press
ISBN 13 : 1107661307
Total Pages : 145 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis Medical Genetics for the MRCOG and Beyond by : Edward S. Tobias

Download or read book Medical Genetics for the MRCOG and Beyond written by Edward S. Tobias and published by Cambridge University Press. This book was released on 2014-03-20 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.

Research Plan on Fragile X Syndrome and Associated Disorders

Author : National Institutes National Institutes of Health (NIH)
Publisher : CreateSpace
ISBN 13 : 9781503075450
Total Pages : 96 pages
Book Rating : 4.0/5 (754 download)

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Book Synopsis Research Plan on Fragile X Syndrome and Associated Disorders by : National Institutes National Institutes of Health (NIH)

Download or read book Research Plan on Fragile X Syndrome and Associated Disorders written by National Institutes National Institutes of Health (NIH) and published by CreateSpace. This book was released on 2014-11-03 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt: In its report in the fiscal year 2008 budget for the U.S. Department of Health and Human Services (DHHS), the Senate Committee on Appropriations requested that "the NIH, through the NICHD [the Eunice Kennedy Shriver National Institute of Child Health and Human Development] and other participating Institutes, convene a scientific session in 2008 to develop pathways to new opportunities for collaborative, directed research across Institutes, and to produce a blueprint of coordinated research strategies and public-private partnership opportunities for Fragile X." The NIH Fragile X Research Coordinating Group (formed in March 2007) assumed the task of bringing together representatives from the research and clinical communities along with representatives for affected individuals and family members and other pertinent federal agencies. Three working groups, one for each of the primary disorders associated with Fragile X syndrome (FXS), were formed in March of 2008 and charged with developing comprehensive recommendations for specific high-priority research objectives for FXS and the associated disorders of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The goals were designed to be used by the NIH and the FXS, FXTAS, and FXPOI research communities and to be shared with other federal agencies to facilitate coordinated research activities that will lead to timely detection, diagnosis, treatment, and prevention of the targeted disorders.

Proceedings of the "Fourth International Conference of FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy"

Author : Cecilia Giulivi
Publisher : Frontiers Media SA
ISBN 13 : 288966919X
Total Pages : 140 pages
Book Rating : 4.8/5 (896 download)

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Book Synopsis Proceedings of the "Fourth International Conference of FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy" by : Cecilia Giulivi

Download or read book Proceedings of the "Fourth International Conference of FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy" written by Cecilia Giulivi and published by Frontiers Media SA. This book was released on 2021-06-29 with total page 140 pages. Available in PDF, EPUB and Kindle. Book excerpt: