Tuberous Sclerosis Complex
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Tuberous Sclerosis Complex
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Author : Manuel Rodriguez Gomez
language : en
Publisher: Oxford University Press
Release Date : 1999-07-15
Tuberous Sclerosis Complex written by Manuel Rodriguez Gomez and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999-07-15 with Medical categories.
Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes sever mental retardation. Infants with this disease may appear overactive, autistic, or socially impaired. Because tuberous sclerosis involves abnormal cellular differentiation, aberrant neuronal migration, and excessive cell proliferation, this thoroughly revised edition will be of interest to a wide range of professionals involved in the study of biological mechanisms underlying many genetically determined neurological disorders.
Tuberous Sclerosis Complex
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Author : David J. Kwiatkowski
language : en
Publisher: John Wiley & Sons
Release Date : 2011-08-24
Tuberous Sclerosis Complex written by David J. Kwiatkowski and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-08-24 with Science categories.
The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.
Tuberous Sclerosis Complex
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Author : Paolo Curatolo
language : en
Publisher: Cambridge University Press
Release Date : 2003-01-10
Tuberous Sclerosis Complex written by Paolo Curatolo and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-01-10 with Medical categories.
Correlating new genetic data and basic science regarding tuberous sclerosis, this collection covers clinical presentation; reviews history and current diagnostic criteria; and notes recent advances in neuropathology, molecular genetics and neurobiology. Tuberous sclerosis incorporates malformations characterized by disturbances in cellular differentiation and growth. It appears with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism.
Tuberous Sclerosis Complex Diagnosis And Management
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Author : Sergiusz Jozwiak
language : en
Publisher: Frontiers Media SA
Release Date : 2021-11-30
Tuberous Sclerosis Complex Diagnosis And Management written by Sergiusz Jozwiak and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-11-30 with Medical categories.
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease
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Author : Roger N. Rosenberg
language : en
Publisher: Elsevier
Release Date : 2014-10-28
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease written by Roger N. Rosenberg and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-10-28 with Science categories.
Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. - Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease - Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain - Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease Seventh Edition
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Author : Roger N. Rosenberg
language : en
Publisher: Elsevier
Release Date : 2024-10-07
Rosenberg S Molecular And Genetic Basis Of Neurological And Psychiatric Disease Seventh Edition written by Roger N. Rosenberg and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-10-07 with Medical categories.
Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. This volume includes new chapters on Von Hippel-Lindau disease, antisocial and violent behavior and Autism. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large. - Both volumes combined provide a comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease - This volume presents detailed coverage of disease mechanisms, and management for degenerative disorders, movement disorders, and muscle and neuromuscular junction disorders. - Includes new chapters on the pharmacogenomics of Alzheimer's Disease and Epilepsy and the most recent updates in molecular genetics, focusing on pain genetics and muscular dystrophy
Tuberous Sclerosis New Insights For The Healthcare Professional 2011 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-01-09
Tuberous Sclerosis New Insights For The Healthcare Professional 2011 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-09 with Medical categories.
Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Tuberous Sclerosis in a concise format. The editors have built Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Tuberous Sclerosis in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Neurocutaneous Disorders
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Author : Christos P. Panteliadis
language : en
Publisher: Springer Nature
Release Date : 2022-02-03
Neurocutaneous Disorders written by Christos P. Panteliadis and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-02-03 with Medical categories.
This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise. Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders. The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.
Malformations Of The Nervous System
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Author : Harvey B. Sarnat
language : en
Publisher: Newnes
Release Date : 2007-09-26
Malformations Of The Nervous System written by Harvey B. Sarnat and has been published by Newnes this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-09-26 with Medical categories.
This volume deals with brain development malformations of the central nervous system, showcasing a unique approach that furthers research through systematic integration of exciting new developments from fields including molecular genetics, neuroimaging, and neuropathology. By integrating data and research from these disciplines, better conceptualization of the mechanisms of the developmental processes is achieved. Clinicians will find invaluable insights into complex issues, including midline hypoplasias, disorders of segmentation of the neural tube, and hamartomatous disorders of cellular lineage, amongst others. The clinical manifestations of central nervous system malformations are also discussed, along with new advancements in MRI techniques and analysis, including volumetric morphology, spectroscopy, and functional neuroimaging. Sections dedicated to management and treatment are also included in an effort to aid clinicians in their goal of providing better care for individuals affected by these types of malformations. * A single source that encompasses the various aspects of cerebral malformations * A unique approach that furthers research through systematic integration of exciting new developments from fields including molecular genetics, neuroimaging, and neuropathology* New diagnostic tools, management protocols, and treatments for patient care
Jasper S Basic Mechanisms Of The Epilepsies
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Author : Jeffrey Noebels
language : en
Publisher: OUP USA
Release Date : 2012-06-29
Jasper S Basic Mechanisms Of The Epilepsies written by Jeffrey Noebels and has been published by OUP USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-06-29 with Medical categories.
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.