Search results for ""author patrick f chinnery""

The last decade has seen major advances in our understanding of the basic scientific principles that underpin clinical neurology. Many of these advances have already had a major impact on routine clinical practice, and this is likely to continue in the future. Although this makes it an exciting time to practice neurology, it also presents new challenges. How can established general neurologists keep up-to-date with clinically relevant scientific advances, and how can the specialist remain competent outside his own field? What should trainee neurologists learn to prepare themselves for the future career?Written by experts in the field, this timely book presents the scientific principles behind neurology. It aims to take the reader from the human genome, through gene expression, to molecular and cellular pathology, and subsequently to contemporary clinical investigations and clinical trials. Each contribution includes a discussion about the future of the field and highlights areas of potential growth and their relevance to routine clinical practice over the next decade. The succinctly written chapters will be easily accessible to both neurologists and trainees who have no expertise in the area.Many of the chapters are co-written by a clinician and a basic scientist, and each has been subject to peer review — both by experts in the field and a “jobbing” general neurologist. This has ensured that the contributions reflect contemporary scientific thinking which is presented in a way that is easy to digest. The book includes generous use of diagrams to help explain difficult concepts, a glossary explaining the terminology, and provides information on links to web-based resources for further information.

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Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within. This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.

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