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Download or read book Molecular Defects and Clinical Diagnosis in Dystrophinopathies written by and published by . This book was released on 1994 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher :
ISBN 13 :
Total Pages : 4 pages
Book Rating : 4.:/5 (645 download)
Download or read book Selected Papers from the Proceedings of the Muscular Dystrophy Research Symposium "Molecular Defects and Clinical Diagnosis in Dystrophinopathies" written by and published by . This book was released on 1994 with total page 4 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Corrado Angelini
Publisher :
ISBN 13 :
Total Pages : 3 pages
Book Rating : 4.:/5 (355 download)
Download or read book Special Issue--selected Papers from the Proceedings of the Muscular Dystrophy Research Symposium written by Corrado Angelini and published by . This book was released on 1994 with total page 3 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Corrado Angelini
Publisher :
ISBN 13 :
Total Pages : 102 pages
Book Rating : 4.:/5 (488 download)
Download or read book Molecular Defects and Clinical Diagnosis in Dystrophinopathieds written by Corrado Angelini and published by . This book was released on 1994 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : George Karpati
Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.6/5 (56 download)
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 : Basil T. Darras
Publisher : Elsevier
ISBN 13 : 0124171273
Total Pages : 1156 pages
Book Rating : 4.1/5 (241 download)
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 : Teodora Chamova
Publisher : LAP Lambert Academic Publishing
ISBN 13 : 9783847317371
Total Pages : 104 pages
Book Rating : 4.3/5 (173 download)
Download or read book Approaches in Diagnostic and Care of Duchenne/Becker Muscular Dystrophy written by Teodora Chamova and published by LAP Lambert Academic Publishing. This book was released on 2011-12 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a contemporary approach in the diagnosis, follow-up, treatment and care of Duchenne/Becker muscular dystrophy. Modern genetic tests are used to clarify molecular defects in our patients and to prepare them for future gene therapies. This is the first characterization of the cognitive impairment in Bulgarian patients with dystrophinopathy. The findings of the present study demonstrate that the cognitive profile of patients with dystrophinopathies is characterised by a broad range of intellectual abilities, as in addition to borderline general intellectual abilities, verbal short-term memory, is more severely affected than the long term one. A significant difference was found between general cognitive abilities in patients with an intact Dp140 isoform versus patients whose deletion was incompatible with formation of intact Dp140.
Author : Corrado Angelini
Publisher : Springer
ISBN 13 : 3319564544
Total Pages : 392 pages
Book Rating : 4.3/5 (195 download)
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 392 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 : Victor Dubowitz
Publisher : Cambridge University Press
ISBN 13 : 9780521412032
Total Pages : 178 pages
Book Rating : 4.4/5 (12 download)
Download or read book The Floppy Infant written by Victor Dubowitz and published by Cambridge University Press. This book was released on 1980 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of The Floppy Infant is devoted to the recognition and diagnosis of the floppy infant syndrome. It includes a review of some of the more important causes and provides a practical approach to the assessment and management such children require. The text of the first edition has been completely revised, but the emphasis has not changed: it remains an immensely practical and up-to-date handbook for the clinician.
Author : Victor Dubowitz
Publisher : Bailliere Tindall Limited
ISBN 13 :
Total Pages : 746 pages
Book Rating : 4.3/5 (91 download)
Download or read book Muscle Biopsy written by Victor Dubowitz and published by Bailliere Tindall Limited. This book was released on 1985 with total page 746 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Thomas T. Warner
Publisher : Elsevier Health Sciences
ISBN 13 : 0702038458
Total Pages : 343 pages
Book Rating : 4.7/5 (2 download)
Download or read book Practical Guide to Neurogenetics E-Book written by Thomas T. Warner and published by Elsevier Health Sciences. This book was released on 2008-11-04 with total page 343 pages. Available in PDF, EPUB and Kindle. Book excerpt: This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.
Author : Kerry R. Mills
Publisher : Oxford University Press
ISBN 13 : 0199688397
Total Pages : 481 pages
Book Rating : 4.1/5 (996 download)
Download or read book Oxford Textbook of Clinical Neurophysiology written by Kerry R. Mills and published by Oxford University Press. This book was released on 2017 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: Part of the Oxford Textbooks in Clinical Neurology series, the Oxford Textbook of Clinical Neurophysiology includes sections that provide a summary of the basic science underlying neurophysiological techniques, a description of the techniques themselves, including normal values, and a description of the use of the techniques in clinical situations. Much of diagnostic neurophysiology is essentially pattern recognition which is illustrated throughout the text using audio and video examples. Divided into four key sections, this book begins with the scientific basis of clinical neurophysiology (Section 1) before exploring specific techniques including Electromyography, Intracranial EEG recordings, and Magnetoencephalography (Section 2). The final two sections explore clinical aspects of both the peripheral nervous system (Section 3) and the central nervous system (Section 4).
Author : Nicholas Wood
Publisher : Cambridge University Press
ISBN 13 : 052154372X
Total Pages : 251 pages
Book Rating : 4.5/5 (215 download)
Download or read book Neurogenetics written by Nicholas Wood and published by Cambridge University Press. This book was released on 2012-04-12 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Author : Tulio E. Bertorini
Publisher : Elsevier Health Sciences
ISBN 13 : 0702038695
Total Pages : 661 pages
Book Rating : 4.7/5 (2 download)
Download or read book Neuromuscular Case Studies written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2008-05-06 with total page 661 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders. No other reference boasts such a large array of clinical studies devoted to all areas of this broad topic! Each case study reviews the etiologies, pathogenesis, differential diagnosis, and management of a particular disorder, helping you not only recognize its presentation, but also determine a diagnosis and the best treatment plans for your patients. You'll also find expert guidance on the basic mechanisms of neuromuscular disorders, clinical examination, and diagnostic tests—including EMG, muscle biopsy, genetic testing, and more. - More than 100 detailed case studies explore both common and rare neuromuscular disorders and the treatment protocols for each, equipping you with the knowledge you need to confidently manage any challenge. Each case includes a summary of important points or highlights of the study. - Case studies are arranged either by complaint or by diagnosis so that you can successfully manage your patients with or without an initial diagnosis. - Comprehensive coverage of EMGs and nerve conduction studies and other diagnostic tests, including muscle and nerve biopsies and genetic testing, helps you accurately diagnose nerve, muscle, and neuromuscular transmission disorders. - Detailed discussions of treatment plans and commonly used drugs enhance your management of autoimmune disorders, painful neuropathy, dysautonomia, and other neuromuscular disorders. - A reader-friendly format takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. - More than 350 high-quality illustrations, including full-color patient photographs, biopsies, and EMG tracings, make complex concepts easier to understand and apply.
Author : Tulio E. Bertorini
Publisher : Elsevier Health Sciences
ISBN 13 : 1437736408
Total Pages : 469 pages
Book Rating : 4.4/5 (377 download)
Download or read book Neuromuscular Disorders: Management and Treatment E-Book written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2010-09-08 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.
Author :
Publisher : Academic Press
ISBN 13 : 0123851580
Total Pages : 4744 pages
Book Rating : 4.1/5 (238 download)
Download or read book Encyclopedia of the Neurological Sciences written by and published by Academic Press. This book was released on 2014-04-29 with total page 4744 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Encyclopedia of the Neurological Sciences, Second Edition, Four Volume Set develops from the first edition, covering all areas of neurological sciences through over 1000 entries focused on a wide variety of topics in neurology, neurosurgery, psychiatry and other related areas of neuroscience. The contributing authors represent all aspects of neurology from many viewpoints and disciplines to provide a complete overview of the field. Entries are designed to be understandable without detailed background knowledge in the subject matter, and cross-referencing and suggested further reading lead the reader from a basic knowledge of the subject to more advanced understanding. The easy-to-use 'encyclopedic-dictionary' format of the Encyclopedia of the Neurological Sciences, Second Edition features alphabetic entries, extensive cross-referencing, and a thorough index for quick reference. The wealth of information provided by these four volumes makes this reference work a trusted source of valuable information for a wide range of researchers, from undergraduate students to academic researchers. Provides comprehensive coverage of the field of neurological science in over 1,000 entries in 4 volumes "Encyclopedic-dictionary" format provides for concise, readable entries and easy searching Presents complete, up-to-date information on 32 separate areas of neurology Entries are supplemented with extensive cross-referencing, useful references to primary research articles, and an extensive index
Author : Dongsheng Duan
Publisher : Springer Science & Business Media
ISBN 13 : 144191207X
Total Pages : 281 pages
Book Rating : 4.4/5 (419 download)
Download or read book Muscle Gene Therapy written by Dongsheng Duan and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.
