Genetic Neuromuscular Disorders - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Genetic Neuromuscular Disorders write by Corrado Angelini. This book was released on 2017-10-05. Genetic Neuromuscular Disorders available in PDF, EPUB and Kindle. 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.
Neuromuscular Disorders in Clinical Practice
Neuromuscular Disorders in Clinical Practice - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Neuromuscular Disorders in Clinical Practice write by Bashar Katirji. This book was released on 2013-10-11. Neuromuscular Disorders in Clinical Practice available in PDF, EPUB and Kindle. 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.
Mackenzie's Mission
Mackenzie's Mission - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Mackenzie's Mission write by Rachael Casella. This book was released on 2020-06-02. Mackenzie's Mission available in PDF, EPUB and Kindle. 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
Atlas of Neuromuscular Diseases
Atlas of Neuromuscular Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Atlas of Neuromuscular Diseases write by Eva L. Feldman. This book was released on 2021-02-20. Atlas of Neuromuscular Diseases available in PDF, EPUB and Kindle. This atlas offers a comprehensive overview of neuromuscular diseases. It discusses all aspects of neuromuscular disorders, including general tools, the cranial and spinal nerves, the nerve plexus, peripheral nerves, mono- and polyneuropathies, entrapment syndromes, the neuromuscular junction, motor neuron diseases, muscle disease, and autonomic involvement. Each chapter is structured into the following sections: anatomy, symptoms, signs, pathogenesis, diagnosis and differential diagnosis, therapy, and prognosis. The diagnostic tools used for neuromuscular disease are explained, and the therapeutic options for each disease are described. This updated third edition includes new chapters addressing a range of topics: from histology to molecular mechanisms, genetic aspects, the mechanisms of emerging new therapies, neuroimaging, neuromuscular disease, and new pathogenic mechanisms. The book aims to be a useful companion for neuromuscular disease. The homogenous structure, illustrations with figures, and representative images makes the atlas easy to read and helpful in understanding neuromuscular problems.
Neuromuscular Diseases
Neuromuscular Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Neuromuscular Diseases write by Michael Swash. This book was released on 2013-03-14. Neuromuscular Diseases available in PDF, EPUB and Kindle. 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.
