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Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach - Rilegato

 
9780124170445: Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
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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

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L'autore:
Dr. Basil T. Darras is Associate Neurologist-in-Chief and Chief of the Division of Clinical Neurology at Boston Children’s Hospital, and the Joseph J. Volpe Professor of Neurology at Harvard Medical School. Dr. Darras is a pediatric neurologist with advanced training and certification in human genetics and neuromuscular medicine. At Boston Children’s he serves as Director of the Neuromuscular Program, which includes one of the oldest and most active muscular dystrophy clinics in the country and where he specializes in the care of children with neuromuscular conditions originating from inherited or acquired conditions of the motor unit. He has published over 140 original reports in peer-reviewed journals and over 70 chapters, reviews and editorials; his major publications and specific research interests have focused on the molecular genetics, diagnostics, and therapeutics of Duchenne and Becker muscular dystrophies and spinal muscular atrophy, and on defining the indications for new diagnostic methodologies in the evaluation of children with pediatric neuromuscular diseases. Basic research, carried out in collaboration with scientists in the research laboratories of Boston Children’s and other institutions, focuses on the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis and treatment of congenital myopathies and muscular dystrophies. Dr. Darras is site PI for the consortium conducting Pediatric Neuromuscular Clinical Research in Spinal Muscular Atrophy, and site PI/PD for the NeuroNEXT NINDS Program. He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.
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This book offers the best and most-up-to-date comprehensive review of the molecular genetics, pathogenesis, diagnosis, management and prognosis in pediatric neuromuscular disorders. It is the only pediatric neuromuscular text that in addition to muscle diseases, also includes disorders of the motor neuron, peripheral nerve, and neuromuscular junction, other entities such as hypotonia, arthrogryposis multiplex congenita, ataxias, and complex regional pain syndromes, and special considerations such as novel molecular therapeutic interventions, outcome measures and orthopedic management. All chapters are written by major international experts in the field. This is the only comprehensive and up-to-date textbook on motor unit disorders of infancy, childhood and adolescence in the world to date.

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ISBN 10: 0124170447 ISBN 13: 9780124170445
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Darras, Basil T. (Editor)/ Jones, Jr., H. Royden (Editor)/ Ryan, Monique M. (Editor)/ De Vivo, Darryl C. (Editor)
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