Genetic Neuromuscular Disorders

Author : Corrado Angelini
Publisher : Springer
Page : 433 pages
File Size : 40,7 Mb
Release : 2017-10-05
Category : Medical
ISBN : 9783319564548

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Genetic Neuromuscular Disorders by Corrado Angelini Pdf

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 : Rachael Casella
Publisher : Allen & Unwin
Page : 302 pages
File Size : 41,5 Mb
Release : 2020-06-02
Category : Biography & Autobiography
ISBN : 9781760874391

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Mackenzie's Mission by Rachael Casella Pdf

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 : Basil T. Darras,H. Royden Jones, Jr.,Monique M. Ryan,Darryl C. De Vivo
Publisher : Elsevier
Page : 1160 pages
File Size : 40,5 Mb
Release : 2014-12-03
Category : Medical
ISBN : 9780124171275

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Neuromuscular Disorders of Infancy, Childhood, and Adolescence by Basil T. Darras,H. Royden Jones, Jr.,Monique M. Ryan,Darryl C. De Vivo Pdf

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 : Satish V. Khadilkar,Rakhil S. Yadav,Bhagyadhan A. Patel
Publisher : Springer
Page : 534 pages
File Size : 47,9 Mb
Release : 2017-12-28
Category : Medical
ISBN : 9789811053610

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Neuromuscular Disorders by Satish V. Khadilkar,Rakhil S. Yadav,Bhagyadhan A. Patel Pdf

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 : Alan E. H. Emery
Publisher : Unknown
Page : 600 pages
File Size : 41,6 Mb
Release : 1998
Category : Medical
ISBN : UOM:39015042759988

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Neuromuscular Disorders by Alan E. H. Emery Pdf

A comprehensive and detailed overview of the current understanding of the molecular pathology of neuromuscular disorders. For each of 20 disorders, the leading international authorities in the field review: Clinical Features, Pathology, Inheritance, Molecular Genetics, Screening, Prenatal Diagnosis, Prevention and Counseling, Possible treatment by Drug or Gene Therapy.

Author : Bashar Katirji,Henry J. Kaminski,Robert L. Ruff
Publisher : Springer Science & Business Media
Page : 1565 pages
File Size : 40,5 Mb
Release : 2013-10-11
Category : Medical
ISBN : 9781461465676

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Neuromuscular Disorders in Clinical Practice by Bashar Katirji,Henry J. Kaminski,Robert L. Ruff Pdf

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,Martin S. Schwartz
Publisher : Springer Science & Business Media
Page : 548 pages
File Size : 51,9 Mb
Release : 2013-03-14
Category : Medical
ISBN : 9781447138341

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Neuromuscular Diseases by Michael Swash,Martin S. Schwartz Pdf

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 : Dongsheng Duan,Jerry R. Mendell
Publisher : Springer
Page : 811 pages
File Size : 54,7 Mb
Release : 2019-03-30
Category : Medical
ISBN : 9783030030957

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Muscle Gene Therapy by Dongsheng Duan,Jerry R. Mendell Pdf

About 7 million people worldwide are suffering from various inherited neuromuscular diseases. Gene therapy brings the hope of treating these diseases at their genetic roots. Muscle Gene Therapy is the only book dedicated to this topic. The first edition was published in 2010 when the field was just about to enter its prime time. The progress made since then has been unprecedented. The number of diseases that have been targeted by gene therapy has increased tremendously. The gene therapy toolbox is expanded greatly with many creative novel strategies (such as genome editing and therapy with disease-modifying genes). Most importantly, clinical benefits have begun to emerge in human patients. To reflect rapid advances in the field, we have compiled the second edition of Muscle Gene Therapy with contributions from experts that have conducted gene therapy studies either in animal models and/or in human patients. The new edition offers a much needed, up-to-date overview and perspective on the foundation and current status of neuromuscular disease gene therapy. It provides a framework to the development and regulatory approval of muscle gene therapy drugs in the upcoming years. This book is a must-have for anyone who is interested in neuromuscular disease gene therapy including those in the research arena (established investigators and trainees in the fields of clinical practice, veterinary medicine and basic biomedical sciences), funding and regulatory agencies, and patient community.

Author : Eva L. Feldman,James W. Russell,Wolfgang N. Löscher,Wolfgang Grisold,Stefan Meng
Publisher : Springer Nature
Page : 364 pages
File Size : 48,6 Mb
Release : 2021-02-24
Category : Medical
ISBN : 9783030634490

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Atlas of Neuromuscular Diseases by Eva L. Feldman,James W. Russell,Wolfgang N. Löscher,Wolfgang Grisold,Stefan Meng Pdf

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.

Author : William Duddy,Stephanie Duguez
Publisher : Mdpi AG
Page : 318 pages
File Size : 44,6 Mb
Release : 2021-11-08
Category : Science
ISBN : 3036516220

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Understanding Neuromuscular Health and Disease by William Duddy,Stephanie Duguez Pdf

This compilation focuses on recent advances in the molecular and cellular understanding of neuromuscular biology, and the treatment of neuromuscular disease. These advances are at the forefront of modern molecular methodologies, often integrating across wet-lab cell and tissue models, dry-lab computational approaches, and clinical studies. The continuing development and application of multiomics methods offer particular challenges and opportunities in the field, not least in the potential for personalized medicine.

Author : Hadi Manji,Chris Turner,Matthew R. B. Evans
Publisher : Springer
Page : 239 pages
File Size : 52,6 Mb
Release : 2016-08-18
Category : Medical
ISBN : 9781447123897

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Neuromuscular Disease by Hadi Manji,Chris Turner,Matthew R. B. Evans Pdf

This book provides an accessible guide to neuromuscular disorders using case scenarios from the world-renowned MRC Centre for Neuromuscular Diseases at the National Hospital, Queen Square, London, UK. Fifty genetic and acquired disorders are presented in a practical, easy-to-read format, including those that are common and also some which are rare. Each case covers the history, examination and investigations, including neurophysiology, neuroradiology and neuropathology if appropriate. Discussions of each case include the differential diagnosis, useful clinical pointers and a brief summary of the management of the condition. Neuromuscular Disease: Case Studies from Queen Square is aimed at neurology trainees and consultant general neurologists.

Author : Carmen Espinós,Vicente Felipo,Francesc Palau
Publisher : Springer Science & Business Media
Page : 311 pages
File Size : 43,9 Mb
Release : 2010-03-11
Category : Medical
ISBN : 9789048128136

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Inherited Neuromuscular Diseases by Carmen Espinós,Vicente Felipo,Francesc Palau Pdf

This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.

Author : David Hilton-Jones,Martin R. Turner,Martin Turner
Publisher : Oxford Textbooks in Clinical N
Page : 399 pages
File Size : 54,5 Mb
Release : 2014
Category : Medical
ISBN : 9780199698073

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Oxford Textbook of Neuromuscular Disorders by David Hilton-Jones,Martin R. Turner,Martin Turner Pdf

'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 : S. DiDonato
Publisher : Unknown
Page : 296 pages
File Size : 43,7 Mb
Release : 1988
Category : Medical
ISBN : UOM:39015013220192

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Molecular Genetics of Neurological and Neuromuscular Disease by S. DiDonato Pdf

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 48,9 Mb
Release : 2021-01-27
Category : Science
ISBN : 9781119432678

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Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf

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.