Genetic Neuromuscular Disorders

Author : Corrado Angelini
Publisher : Springer
ISBN 13 : 3319564544
Total Pages : 433 pages
Book Rating : 4.48/5 ( download)

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Download or read book Genetic Neuromuscular Disorders written by Corrado Angelini and published by Springer. This book was released on 2017-10-05 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Author : Bashar Katirji
Publisher : Springer Science & Business Media
ISBN 13 : 1461465672
Total Pages : 1565 pages
Book Rating : 4.76/5 ( download)

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Download or read book Neuromuscular Disorders in Clinical Practice written by Bashar Katirji and published by Springer Science & Business Media. This book was released on 2013-10-11 with total page 1565 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 miscellaneous neuromuscular disorders and syndromes. Neuromuscular Disorders in Clinical Practice, Second Edition is intended to serve as a comprehensive text for both novice and experienced practitioners. General neurologists as well as specialists in neuromuscular medicine and trainees in neuromuscular medicine, clinical neurophysiology and electromyography should find this book inclusive, comprehensive, practical and highly clinically focused. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will find the book of great value in their practice.

Author : Michael Swash
Publisher : Springer Science & Business Media
ISBN 13 : 1447138341
Total Pages : 548 pages
Book Rating : 4.41/5 ( download)

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Download or read book Neuromuscular Diseases written by Michael Swash and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nine years have elapsed since the second edition of this book was published. In this time the principal advances in neuromuscular diseases have been in the application of molecular genetics to understanding the aetiology and pathogenesis of this group of disorders. As a result many previously unrecognised disorders have been charac terised. Some clinical syndromes, such as the limb girdle dystrophies, have become better defined. In many such instances the new genetic information has led to major advances in knowledge of the biology of cell structures, for example, the membrane structural and channel proteins. The clinical syndromes themselves, and their patho logical and electrophysiological characteristics, however, remain as important as ever, since they constitute the clinical problem itself and, indeed, the database from which all other concepts emerge. Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. However, this informa tion does not necessarily always define clinically useful syndromes. Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un detectable by clinical examination, although the phenomenon itself was originally defined as a clinical entity. The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under lying defect in cell structural proteins.

Author : Basil T. Darras
Publisher : Elsevier
ISBN 13 : 0124171273
Total Pages : 1156 pages
Book Rating : 4.75/5 ( download)

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Download or read book Neuromuscular Disorders of Infancy, Childhood, and Adolescence written by Basil T. Darras and published by Elsevier. This book was released on 2014-12-03 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry

Author : Rachael Casella
Publisher : Allen & Unwin
ISBN 13 : 1760874396
Total Pages : 302 pages
Book Rating : 4.91/5 ( download)

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Download or read book Mackenzie's Mission written by Rachael Casella and published by Allen & Unwin. This book was released on 2020-06-02 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: A story of triumph over adversity, the strength that can be found in love and kindness, and the power of one couple to effect positive change in the world. 'A true love story' - Mia Freedman, founder of Mamamia Rachael and Jonathan were thrilled to welcome their baby Mackenzie into the world and to start their new lives as parents. Little did they know that in a few months they would be tested to endurance and beyond. Like many other couples starting a family, Rachael and Jonathan had no idea they were both carriers for a genetic disease, and that 1 in 20 babies are affected by genetic birth defects. Their daughter was one of those babies, and Mackenzie's Mission is Rachael's beautiful and heartwarming account of Mackenzie's life, child loss, and a journey through IVF. Determined that other couples should not go through the same heartbreak, Rachael and Jonathan are now champions for genetic testing. This is a story of triumph over adversity, the strength that can be found in kindness and the power of one couple to effect positive change in the world. 'Heartbreaking and inspiring. A must read for anyone who's lost a child, loved a child, or is desperately trying to for a child. You will cry but you will also find comfort in this incredible story.' - Erin Molan, sports presenter, Nine Network 'A book about grief and finding purpose through unimaginable loss and heartbreak. Beautiful Mackenzie will continue to have a powerful impact on this world through the work of her remarkable parents.' - Libby Trickett, Olympic swimming gold medallist and author of Beneath the Surface 'The most extraordinary story of a mother's love and her daughter's legacy.' - Marcia Leone, creator of Not So Mumsy

Author : Satish V. Khadilkar
Publisher : Springer
ISBN 13 : 9811053618
Total Pages : 534 pages
Book Rating : 4.10/5 ( download)

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Download or read book Neuromuscular Disorders written by Satish V. Khadilkar and published by Springer. This book was released on 2017-12-28 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.

Author : National Institute of Neurological Diseases and Stroke
Publisher :
ISBN 13 :
Total Pages : 26 pages
Book Rating : 4.3U/5 ( download)

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Download or read book Muscular Dystrophy written by National Institute of Neurological Diseases and Stroke and published by . This book was released on 1971 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : David Hilton-Jones
Publisher : Oxford Textbooks in Clinical N
ISBN 13 : 0199698074
Total Pages : 399 pages
Book Rating : 4.73/5 ( download)

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Download or read book Oxford Textbook of Neuromuscular Disorders written by David Hilton-Jones and published by Oxford Textbooks in Clinical N. This book was released on 2014 with total page 399 pages. Available in PDF, EPUB and Kindle. Book excerpt: '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

Author : George Karpati
Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.23/5 ( download)

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Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.78/5 ( download)

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Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.