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Neurogenetics
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...
Genetics of Movement Disorders
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 ...
Trials for Cerebellar Ataxias
Despite the critical importance of the cerebellum in brain function, the scientific community still lacks effective treatments for most cerebellar ataxias. This book provides a link between the pathogenesis and therapies of cerebellar ataxias while also providing a comprehensive assessment of the preclinical and clinical trials dedicated to cerebellar ataxias over the past 20 years of progress. This is the first book fully dedicated to the trials and therapies of these disorders. It is a truly authoritative and comprehensive reference, and comes at a time of major advances in genetic tools and neuroimaging assessments. The coverage begins by laying a foundation of the basic science of the cerebellum and ataxias, proceeds to discuss biomarkers and the tools of trials, offers guidelines on conducting trials, and then explores the full range of therapeutics and their trials, including gene therapy and cell transplantation. The authors are top experts on cerebellar research and the contributing authors have all made seminal contributions in the field.
Spinocerebellar Degenerations
Apply the expertise of today's leading authorities - all from the forefront of research and clinical practice! This volume in the Blue Books of Neurology series provides rapid access to essential information on the clinical features, differential diagnosis, genetic testing, and management of a broad group of spinocerebellar degenerative disorders, including ataxias and spastic paraplegias. It delivers the guidance you need to accurately diagnose and manage your patients' conditions using today's most effective methods! Presents a current understanding of the normal and pathological functioning of the genes responsible for ataxias and spastic paraplegias. Offers current, incisive guidance on the differential diagnosis of disorders within this group - as well as from other types of neurologic disease. Discusses today's best management approaches for both hereditary and acquired spinocerebellar degenerations.
Polyglutamine Disorders
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 dise...
Genetic Instabilities and Neurological Diseases
Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
The Cerebellum and Its Disorders
The first comprehensive text on the cerebellum and its disorders for many years.
Neurologic Complications of Cancer
Reviewing the impact of cancer on the nervous system, this text examines the diagnosis and management of neurological complications of specific types of cancer, as well as the side effects of oncological treatments. This edition has been updated with new material and diagnostic techniques and treatments.
Diagnosis and Management of Peripheral Nerve Disorders
Peripheral neuropathies represent a challenging subject for most physicians. This is an up-to-date, comprehensive, and readable book on peripheral neuropathies that includes concise information on the clinical, electrophysiological, pathological, pathogenic, and treatment aspects of the most important disorders. New molecular and serologic diagnostic tests are discussed. Sections are devoted to nerve and skin biopsy techniques and findings, quantitative sensory and autonomic reflex tests. Case examples are used liberally throughout the text. The editors: Mendell, Kissel, and Cornblath are experienced clinicians that bring complementary knowledge to each of the subjects. Additional authors have been handpicked for specific topics which add to the value of the edition.
