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Genetic Neuromuscular Disorders
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.
History of Neurology
Handbook of Clinical Neurology: Volume 95 is the first of over 90 volumes of the handbook to be entirely devoted to the history of neurology. The book is a collection of historical materials from different neurology professionals. The book is divided into 6 sections and composed of 55 chapters organized around different aspects of the history of neurology. The first section presents the beginnings of neurology: ancient trepanation, its birth in Mesopotamia, ancient Egypt; the emergence of neurology in the biblical text and the Talmud; neurology in the Greco-Roman world and the period following Galen; neurological conditions in the European Middle Ages; and the development of neurology in the...
Acquired Neuromuscular Disorders
This book provides state of the art information on the pathogenesis, diagnosis, and treatment of a range of inflammatory, autoimmune, and idiopathic neuromuscular disorders. The opening section discusses the differential diagnosis of acquired myopathies based on clinical, electrophysiological, muscle biopsy, and serological criteria, with special focus on the role of electromyography and antibody testing. Each of the relevant clinical entities is then discussed in detail, the coverage including, for example, myasthenia gravis, polymyositis, immune-mediated neuropathies, multifocal motor neuropathies, amyotrophic lateral sclerosis, paraneoplastic neuropathies, and diabetic polyneuropathy. Clear guidance is provided on currently available treatments, with descriptions of the latest advances in physiotherapy, drug therapy, and respiratory care. Other features of this clinically oriented book are the inclusion of many illustrative case presentations and contributions by international authors from leading centers.
Inherited Neuromuscular Diseases
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.
Clinical Linguistics
This book covers different aspects of speech and language pathology and it offers a fairly comprehensive overview of the complexity and the emerging importance of the field, by identifying and re-examining, from different perspectives, a number of standard assumptions in clinical linguistics and in cognitive sciences. The papers encompass different issues in phonetics, phonology, syntax, semantics, and pragmatics, discussed with respect to deafness, stuttering, child acquisition and impairments, SLI, William’s Syndrome deficit, fluent aphasia and agrammatism. The interdisciplinary complexity of the language/cognition interface is also explored by focusing on empirical data from different l...
JIMD Reports, Volume 21
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
High Life
HE history of high-altitude physiology and medicine is such a rich and T colorful topic that it is perhaps surprising that no one has undertaken a comprehensive account before. There are so many interesting ramifications, from the early balloonists to the various high-altitude expeditions, culminating in the great saga of climbing Mt. Everest without supplementary oxygen. Underpinning this variety is the basic biological challenge of hypoxia and the ways organisms adapt to it, a subject that is of key importance in medicine and many other life sciences, encountered as it is by organisms throughout the animal kingdom. I hope that this book will be of interest to a wide range of people, from b...
JIMD Reports, Volume 38
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)
Encyclopedia of Molecular Mechanisms of Disease
This comprehensive encyclopedia supplies the reader with concise information on the molecular pathophysiology of disease. Entries include defined diseases (such as Parkinson's disease) as well as pathophysiological entities (such as tremor). The 1,200 essays are brilliantly structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by up to five references. Individual entries are written by leading experts in the respective area of research to ensure state-of-the-art descriptions of the mechanisms involved. It is an invaluable companion for clinicians and scientists in all medical disciplines.
