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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.
Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach. This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and...
The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point m...
This unique textbook deals with the variations in the causes, presentations and treatment of neurological disease throughout human populations. International Neurology is an indispensable guide to the full range of neurological conditions you will see in your ever-changing patient population. Comprehensive coverage of neurological diseases and disorders with a clinical approach to diagnosis, treatment and management Truly international authorship distils expert knowledge from around the world Succinct, bite-sized, templated chapters allow for rapid clinical referral Further reading recommendations for each chapter guide readers requiring more depth of information Endorsed by the World Federation of Neurology
Bringing together an extraordinary range of international scholars and practitioners that include contemporary visual artists, poets, choreographers, activists, film-makers, theatre-makers, magicians, and circus artists, the contributors situate their rebellious practices of knowledge production and upheaval in the academy and in society.