Fatal Infantile Hypertonic Muscular Dystrophy

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (969 download)

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Book Synopsis Fatal Infantile Hypertonic Muscular Dystrophy by : K. T. Wong

Download or read book Fatal Infantile Hypertonic Muscular Dystrophy written by K. T. Wong and published by . This book was released on 1997 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Companion to Clinical Neurology

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Publisher : Oxford : Oxford University Press
ISBN 13 : 0195159381
Total Pages : 1127 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis Companion to Clinical Neurology by : William Pryse-Phillips

Download or read book Companion to Clinical Neurology written by William Pryse-Phillips and published by Oxford : Oxford University Press. This book was released on 2003 with total page 1127 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Depicts or explains neurology's bygone leaders as well as its symptoms, signs, syndromes, diseases, eponyms, operative procedures, and diagnostic tests."--Foreword.

Advancing genomics for rare disease diagnosis and therapy development vol II

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Publisher : Frontiers Media SA
ISBN 13 : 283253323X
Total Pages : 400 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis Advancing genomics for rare disease diagnosis and therapy development vol II by : Weida Tong

Download or read book Advancing genomics for rare disease diagnosis and therapy development vol II written by Weida Tong and published by Frontiers Media SA. This book was released on 2023-09-07 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pediatric Neurology, Part III

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Publisher : Newnes
ISBN 13 : 0444595775
Total Pages : 731 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Pediatric Neurology, Part III by :

Download or read book Pediatric Neurology, Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

Pediatric Neurology Part III

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Publisher : Elsevier Inc. Chapters
ISBN 13 : 0128084065
Total Pages : 20 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Pediatric Neurology Part III by : Kristl G. Claeys

Download or read book Pediatric Neurology Part III written by Kristl G. Claeys and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myofibrillar myopathies (MFMs) are rare, inherited or sporadic, progressive neuromuscular disorders with considerable clinical and genetic heterogeneity. MFMs are defined morphologically by foci of myofibril dissolution that begins at the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of a large number of proteins including desmin. To date, mutations in six genes are known to cause MFMs, accounting for approximately half of the MFM patients identified. The causative genes encode mainly sarcomeric Z-disk(-related) proteins: desmin, αB-crystallin, myotilin, Z-band alternatively spliced PDZ motif containing protein (ZASP), filamin C and the antiapoptotic BCL2-associated athanogene 3 (Bag3). Although in most MFM patients the disease presents in adulthood and evolves slowly, some patients with desminopathy, αB-crystallinopathy or Bag3opathies have an infantile or juvenile disease onset. Cardiac involvement is very common in desminopathies and can sometimes be the initial or only symptom of the disease. Respiratory symptoms are noted during childhood in αB-crystallinopathies. Early severe cardiac and respiratory involvement is seen in Bag3opathies. Optical microscopic and immunohistochemical features are similar in MFMs; however, ultrastructural findings can be useful to differentiate between the distinct MFM subtypes. No curative treatment for MFMs is currently available. Careful follow-up, especially of cardiac and respiratory function, is important.

Eye Proteins—Advances in Research and Application: 2012 Edition

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Publisher : ScholarlyEditions
ISBN 13 : 146499353X
Total Pages : 411 pages
Book Rating : 4.4/5 (649 download)

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Book Synopsis Eye Proteins—Advances in Research and Application: 2012 Edition by :

Download or read book Eye Proteins—Advances in Research and Application: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 411 pages. Available in PDF, EPUB and Kindle. Book excerpt: Eye Proteins—Advances in Research and Application: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Eye Proteins in a concise format. The editors have built Eye Proteins—Advances in Research and Application: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Eye Proteins in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Eye Proteins—Advances in Research and Application: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Evaluation and Treatment of Myopathies

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Publisher : Oxford University Press
ISBN 13 : 0199873941
Total Pages : 387 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Evaluation and Treatment of Myopathies by : Emma Ciafaloni

Download or read book Evaluation and Treatment of Myopathies written by Emma Ciafaloni and published by Oxford University Press. This book was released on 2014-05-26 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Evaluation and Treatment of Myopathies is written for the clinician who sees patients with muscle disease, or the patient with complaints of pain or weakness of muscle. Like the original, this new edition is divided in to 3 primary sections: Approach to the Patient with Muscle Disease, Specific Myopathies, and General Strategies of Clinical Management, each section providing practical guidance to eliciting key histories and demonstrate findings upon examination. This new edition also provides guidance on the next steps in diagnoses as well as the latest information on pathogenesis, diagnosis, and treatment, in an integrated manner, so as to give trainees, practicing clinicians and others who see neuromuscular disease perspective on how to evaluate and care for patients. New and revised tables, figures, and references are selected and organized to present information of clinical importance to provide the most up-to-date resource on the myopathies.

Proceedings

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Publisher :
ISBN 13 :
Total Pages : 452 pages
Book Rating : 4.4/5 (693 download)

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Book Synopsis Proceedings by :

Download or read book Proceedings written by and published by . This book was released on 1997 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Yearbook of neurology and neurosurgery. 1996

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Publisher :
ISBN 13 : 9780815121459
Total Pages : 596 pages
Book Rating : 4.1/5 (214 download)

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Book Synopsis The Yearbook of neurology and neurosurgery. 1996 by : Walter G. Bradley

Download or read book The Yearbook of neurology and neurosurgery. 1996 written by Walter G. Bradley and published by . This book was released on 1996 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cumulated Index Medicus

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Publisher :
ISBN 13 :
Total Pages : 1508 pages
Book Rating : 4.3/5 (243 download)

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Book Synopsis Cumulated Index Medicus by :

Download or read book Cumulated Index Medicus written by and published by . This book was released on 1995 with total page 1508 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Journal Canadien Des Sciences Neurologiques

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Publisher :
ISBN 13 :
Total Pages : 698 pages
Book Rating : 4.:/5 (318 download)

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Book Synopsis Journal Canadien Des Sciences Neurologiques by :

Download or read book Journal Canadien Des Sciences Neurologiques written by and published by . This book was released on 1998 with total page 698 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Principles of Child Neurology

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Publisher : McGraw-Hill Professional Publishing
ISBN 13 :
Total Pages : 1882 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Principles of Child Neurology by : Bruce O. Berg

Download or read book Principles of Child Neurology written by Bruce O. Berg and published by McGraw-Hill Professional Publishing. This book was released on 1996 with total page 1882 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patterned after Adams and Victor's "Principles of Neurology," this text begins with Approach to the Patient, '' then details the cardinal manifestations and the major disease categories for diagnosing pediatric neurologic disorders.

The Floppy Infant

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Publisher : Cambridge University Press
ISBN 13 : 9780521412032
Total Pages : 178 pages
Book Rating : 4.4/5 (12 download)

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Book Synopsis The Floppy Infant by : Victor Dubowitz

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.

Muscle Disease

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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.

Diseases of the Nervous System in Childhood

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Publisher : Mac Keith Press
ISBN 13 :
Total Pages : 984 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Diseases of the Nervous System in Childhood by : Jean Aicardi

Download or read book Diseases of the Nervous System in Childhood written by Jean Aicardi and published by Mac Keith Press. This book was released on 2009-03-16 with total page 984 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition is comprehensively updated whilst retaining both the popular problem-solving approach and its familiar organisation and style. Notable advances receive careful coverage, from molecular genetics and imaging technology to 'new' diseases and important treatmen developments.

Keeling's Fetal and Neonatal Pathology

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Publisher : Springer Nature
ISBN 13 : 3030841685
Total Pages : 918 pages
Book Rating : 4.0/5 (38 download)

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Book Synopsis Keeling's Fetal and Neonatal Pathology by : T. Yee Khong

Download or read book Keeling's Fetal and Neonatal Pathology written by T. Yee Khong and published by Springer Nature. This book was released on 2022-01-01 with total page 918 pages. Available in PDF, EPUB and Kindle. Book excerpt: This sixth edition provides an overview of fetal and neonatal pathology through a system-based approach. This book contains new chapters on immunology, with a continued focus on molecular aspects of pathology in the perinatal setting. The general principles of perinatal pathology and their clinical situations are also discussed, along with specific pathological entities and their organ systems. Keeling’s Fetal and Neonatal Pathology, sixth edition aims to help the reader treat common problems through anatomical pathology findings and is relevant to practicing and trainee pathologists, obstetricians, maternal and fetal medicine specialists, neonatologists, and pediatricians.

JAMA

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Publisher :
ISBN 13 :
Total Pages : 1046 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis JAMA by :

Download or read book JAMA written by and published by . This book was released on 1928 with total page 1046 pages. Available in PDF, EPUB and Kindle. Book excerpt: