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Neuromuscular Disorders in Clinical Practice
Comprehensive, thoroughly updated, and expanded, Neuromuscular Disorders in Clinical Practice, Second Edition encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular diseases from diagnosis to treatment. Mirroring the first book, this two-volume edition is divided into two parts. Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and...
Companion to Clinical Neurology
This book is designed for the neurologist who (in this day of unusually strict accountability) needs to have at hand an authoritative guide to the diagnostic criteria for all conditions that he or she may be faced with in clinical practice. While originally conceived as a compendium of diagnostic criteria, the author has felt the need to expand the work to include definitions of practically all terms that are used in neurology today. Historical elements are also provided--including entries of important neurologists and neurosurgeons who have impacted the field. The result is an effective representation of the tools of the trade for the neurologist in training and a concise and precise source...
Molecular Basis of Membrane-Associated Diseases
Biological membranes are often effected by diseases. Molecular events leading to or arising from pathological changes in the course of different diseases are as yet not clearly understood. This competent study by leading experts covers changes of the cellular environment, membranes and the metabolic functions during tissue growth and differentiation as well as aspects of abnormal organelle function in lysosomal storage diseases, peroxisomal and mitochondrial disorders, enzyme defects and regulatory defects of receptors due to oncogenes.
Diagnosis and Management of Mitochondrial Disorders
This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.
Inborn Errors of Metabolism
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Molecular Genetics of Inherited Eye Disorders
Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.
Myopathies, An Issue of Rheumatic Disease Clinics
This issue of Rheumatic Disease Clinics provides important updates in myopathies. The following essential topics are covered. Clinical features, pathophysiology, and treatment of polymyositis and dermatomyositis; inclusion body myositis; metabolic myopathies; drug-induced myopathies; muscular dystrophies and neurologic diseases; laboratory testing and imaging; electrophysiological studies; metabolic and genetic testing; and pathology.
Mitochondria
This book provides an update on the step-by-step "how to" methods for the study mitochondrial structure, function, and biogenesis contained in the successful first edition. As in the previous edition, the biochemical, cell biological, and genetic approaches are presented along with sample results, interpretations, and pitfalls from each method.
Basic Neurochemistry
Basic Neurochemistry: Molecular, Cellular and Medical Aspects, a comprehensive text on neurochemistry, is now updated and revised in its Seventh Edition. This well-established text has been recognized worldwide as a resource for postgraduate trainees and teachers in neurology, psychiatry, and basic neuroscience, as well as for graduate and postgraduate students and instructors in the neurosciences. It is an excellent source of information on basic biochemical processes in brain function and disease for qualifying examinations and continuing medical education. - Completely updated with 60% new authors and material, and entirely new chapters - Over 400 fully revised figures in splendid color
Skeletal Muscle
Metabolic and functional impairments in skeletal muscle occur frequently, often in diverse conditions and each with different aetiologies, methods of diagnosis and treatment. This comprehensive text brings the complex facets of skeletal muscle pathology, diagnosis and management together.
