The Muscular Dystrophies

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Muscular Dystrophy

Author : Raymond A. Huml
Publisher : Springer
ISBN 13 : 3319173626
Total Pages : 206 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Muscular Dystrophy by : Raymond A. Huml

Download or read book Muscular Dystrophy written by Raymond A. Huml and published by Springer. This book was released on 2015-07-16 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical and concise guide offers an overview of muscular dystrophy's complicated features, treatment options and general resources. New treatments and a greater understanding of proteins and structures associated with MD are discussed along with long term patient care. Also included are clinical and developmental challenges within the current regulatory landscape and recent scientific and clinical advances. Muscular Dystrophy offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient.

Disorders of Voluntary Muscle

Author : George Karpati
Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.6/5 (56 download)

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Book Synopsis Disorders of Voluntary Muscle by : George Karpati

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.

100 Questions and Answers about Muscular Dystrophy

Author : Kathryn Wagner
Publisher : Jones & Bartlett Publishers
ISBN 13 : 128420166X
Total Pages : 288 pages
Book Rating : 4.2/5 (842 download)

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Book Synopsis 100 Questions and Answers about Muscular Dystrophy by : Kathryn Wagner

Download or read book 100 Questions and Answers about Muscular Dystrophy written by Kathryn Wagner and published by Jones & Bartlett Publishers. This book was released on 2020-06 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: EMPOWER YOURSELF! According to the National Organization for Rare Disorders (NORD), over 250,000 people are affected by muscular dystrophies (MD) in the United States, including Duchenne muscular dystrophy (DMD), myotonic muscular dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD) among many others. No one with MD needs to be alone in their fight against this rare disorder. That's where this book and the authoritative information within can help. 100 Questions & Answers About Muscular Dystrophy offers essential and practical guidance. This unique book provides both doctor and patient perspectives and offers answers to the most asked questions by patients and their loved ones. Is it safe to exercise? How do I find a clinical trial in which to participate? What are some things to remember when going to the emergency department? What can I do about fatigue? Along with the answers to these and other questions, this book provides information on diagnosis, treatment, living with MD, new therapeutic options, and more. Written by a leading expert on the topic with more than 20 years experience caring for patients with MD, 100 Questions & Answers About Muscular Dystrophy is an easy-to-read book and must-have resource for those living with MD, as well as their loved ones.

Duchenne Muscular Dystrophy

Author : Alan E. H. Emery
Publisher : OUP Oxford
ISBN 13 : 0191503665
Total Pages : 300 pages
Book Rating : 4.1/5 (915 download)

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Book Synopsis Duchenne Muscular Dystrophy by : Alan E. H. Emery

Download or read book Duchenne Muscular Dystrophy written by Alan E. H. Emery and published by OUP Oxford. This book was released on 2015-02-19 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Author : Basil T. Darras
Publisher : Elsevier
ISBN 13 : 0124171273
Total Pages : 1156 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Neuromuscular Disorders of Infancy, Childhood, and Adolescence by : Basil T. Darras

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

Muscular Dystrophy

Author : Corrado Angelini
Publisher : Nova Science Publishers
ISBN 13 : 9781626184602
Total Pages : 0 pages
Book Rating : 4.1/5 (846 download)

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Book Synopsis Muscular Dystrophy by : Corrado Angelini

Download or read book Muscular Dystrophy written by Corrado Angelini and published by Nova Science Publishers. This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscular dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases, of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies, after the molecular revolution.

Muscular Dystrophy

Author : Alan E. H. Emery
Publisher :
ISBN 13 : 9780192632173
Total Pages : 190 pages
Book Rating : 4.6/5 (321 download)

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Book Synopsis Muscular Dystrophy by : Alan E. H. Emery

Download or read book Muscular Dystrophy written by Alan E. H. Emery and published by . This book was released on 2000 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this new editionof Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise,physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Since publication of the 1st edition, the genes for almost all the different types of dystrophy have been identified, enabling prevention throughgenetic counselling, and relieving some of the worry for affected families. Drawn from his many years of experience treating patients, Professor Emery provides authoritative, yet compassionate advice for people living with this illness. From reviews of 1st edition 'A family visiting a geneticcounsellor readied with information from this book would be well versed in the scope of concerns that can arise as families live with MD. I applaud the effort to make this care package of information available to families.' The American Journal of Human Genetics

Ferri's Clinical Advisor 2020 E-Book

Author : Fred F. Ferri
Publisher : Elsevier Health Sciences
ISBN 13 : 0323679773
Total Pages : 2136 pages
Book Rating : 4.3/5 (236 download)

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Book Synopsis Ferri's Clinical Advisor 2020 E-Book by : Fred F. Ferri

Download or read book Ferri's Clinical Advisor 2020 E-Book written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2019-06-01 with total page 2136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Significantly updated with the latest developments in diagnosis and treatment recommendations, Ferri’s Clinical Advisor 2020 features the popular "5 books in 1" format to organize vast amounts of information in a clinically relevant, user-friendly manner. This efficient, intuitive format provides quick access to answers on 1,000 common medical conditions, including diseases and disorders, differential diagnoses, and laboratory tests – all reviewed by experts in key clinical fields. Updated algorithms, along with hundreds of new figures, tables, and boxes, ensure that you stay current with today’s medical practice. Contains significant updates throughout, covering all aspects of current diagnosis and treatment. Features 27 all-new topics including chronic traumatic encephalopathy, medical marijuana, acute respiratory failure, gallbladder carcinoma, shift work disorder, radial tunnel syndrome, fertility preservation in women, fallopian tube cancer, primary chest wall cancer, large-bowel obstruction, inguinal hernia, and bundle branch block, among others. Includes a new appendix covering Physician Quality Reporting System (PQRS) Measures. Provides current ICD-10 insurance billing codes to help expedite insurance reimbursements. Patient Teaching Guides for many of the diseases and disorders are included, most available in both English and Spanish versions, which can be downloaded and printed for patients.

Myopathology

Author : Balan Louis Gaspar
Publisher : Springer
ISBN 13 : 9811314624
Total Pages : 305 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Myopathology by : Balan Louis Gaspar

Download or read book Myopathology written by Balan Louis Gaspar and published by Springer. This book was released on 2018-09-24 with total page 305 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.

Neuromuscular Imaging

Author : Mike P. Wattjes
Publisher : Springer Science & Business Media
ISBN 13 : 1461465524
Total Pages : 432 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Neuromuscular Imaging by : Mike P. Wattjes

Download or read book Neuromuscular Imaging written by Mike P. Wattjes and published by Springer Science & Business Media. This book was released on 2013-06-05 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging—including aspects of neuroimaging and musculoskeletal imaging—in patients with inherited, metabolic, and inflammatory muscle diseases. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Topics discussed include: -Modalities such as ultrasound, CT and MRI -Muscle anatomy and physiology -Clinical applications in hereditary and acquired myopathies -Clinical applications in motor neuron disorders and peripheral nerve imaging

Muscular Dystrophies

Author : Robert C. Griggs
Publisher : Elsevier
ISBN 13 : 044453489X
Total Pages : 282 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Muscular Dystrophies by : Robert C. Griggs

Download or read book Muscular Dystrophies written by Robert C. Griggs and published by Elsevier. This book was released on 2011-05-24 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. It summarizes the advances in molecular and cell biology, biochemistry, and other biological sciences, with an emphasis on their application to this group of muscle disorders and to their clinical implications. Starting with an overview of muscular dystrophies, the book’s 16 chapters discuss dystrophinopathies; sarcoglycanopathies; congenital muscular dystrophies; collagen VI-related myopathies; limb-girdle muscular dystrophy 2A; dysferlinopathies; limb-girdle muscular dystrophy 2H and the role of TRIM32; and caveolinopathies. The book also covers myofibrillar myopathies; Emery–Dreifuss muscular dystrophy; facioscapulohumeral dystrophy and scapuloperoneal syndromes; oculopharyngeal muscular dystrophy; myotonic dystrophy types 1 and 2; and distal muscular dystrophies. This book is useful to basic investigators, as it offers an increased understanding of muscular dystrophies; and to clinicians, with its emphasis on issues that are relevant to the care, diagnosis, and management of patients with these disorders. Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies An evaluation of the way advances in molecular and cell biology, biochemistry, and other biological sciences continue to advance the study of these disorders

Gene Therapy

Author : David Cooper
Publisher : Garland Science
ISBN 13 : 1000144682
Total Pages : 431 pages
Book Rating : 4.0/5 (1 download)

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Book Synopsis Gene Therapy by : David Cooper

Download or read book Gene Therapy written by David Cooper and published by Garland Science. This book was released on 2020-09-10 with total page 431 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene Therapy describes the delivery systems now available to target a given tissue with specific gene or oligonucleotide sequences, and explores the utility of animal modules as test systems. In the context of selected disease states, it summarises in vitro and in vivo studies and clinical trials performed to date.

Muscular Dystrophy

Author : Madhuri Hegde
Publisher : BoD – Books on Demand
ISBN 13 : 9535106031
Total Pages : 558 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Muscular Dystrophy by : Madhuri Hegde

Download or read book Muscular Dystrophy written by Madhuri Hegde and published by BoD – Books on Demand. This book was released on 2012-05-09 with total page 558 pages. Available in PDF, EPUB and Kindle. Book excerpt: With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies.

NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Muscle Gene Therapy

Author : Dongsheng Duan
Publisher : Springer Science & Business Media
ISBN 13 : 144191207X
Total Pages : 281 pages
Book Rating : 4.4/5 (419 download)

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Book Synopsis Muscle Gene Therapy by : Dongsheng Duan

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.

Muscle Disease

Author : Hans H. Goebel
Publisher : John Wiley & Sons
ISBN 13 : 1118635485
Total Pages : 731 pages
Book Rating : 4.1/5 (186 download)

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Book Synopsis Muscle Disease by : Hans H. Goebel

Download or read book Muscle Disease written by Hans H. Goebel and published by John Wiley & Sons. This book was released on 2013-05-29 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc. Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter. For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters. This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.

Neurogenetics

Author : Nicholas Wood
Publisher : Cambridge University Press
ISBN 13 : 052154372X
Total Pages : 251 pages
Book Rating : 4.5/5 (215 download)

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Book Synopsis Neurogenetics by : Nicholas Wood

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.