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Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach
Loss of muscle mass and increased fibrosis characterize both sarcopenia of aging and muscular dystrophy. Research is increasingly showing that these two conditions also share several pathophysiological mechanisms, including mitochondrial dysfunction, increased apoptosis, abnormal modulation of autophagy, decline in satellite cells, increased generation of reactive oxygen species, and abnormal regulation of signaling and stress response pathways. This Research Topic will cover several mechanisms involved in aging and dystrophic sarcopenia and explore the therapeutic potential of various strategies for intervention.
The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)
Emery and Rimoin's Essential Medical Genetics
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. ...
Emergencies in Neuromuscular Disorders
This comprehensive book addresses the acute emergencies in neuromuscular disease from a novel perspective, focusing on clinical management and treatment of these disorders rather than the more traditional neuropathology, neurogenetics, and neurophysiology approaches. The book fills the gap in guidelines by providing an evidence-based guidance for the clinical adult or pediatric neurologist confronted by an acutely ill patient in a potentially life-threatening situation. The book is structured according to pathophysiological principles, but each chapter is strictly organised around case vignettes that emphasize clinical relevance allowing the non-specialist to access complex scientific backgr...
Evaluation and Treatment of Myopathies
Preceded by Evaluation and treatment of myopathies / Robert C. Griggs, Jerry R. Mendell, Robert G. Miller. c1995.
Muscle Disease
Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or parti...
Inherited Neuromuscular Diseases
This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.
Current Catalog
First multi-year cumulation covers six years: 1965-70.
Oxford Textbook of Neuromuscular Disorders
'The Oxford Textbook of Neuromuscular Disorders' covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders, with a particular focus on the most clinically relevant disorders
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
