Tissue Culture of Muscle and Nerve in an Investigation of the Pathogenesis of Muscular Dystrophy
Author: Belinda Mary Kumpel
Publisher:
Published: 1973
Total Pages:
ISBN-13:
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Author: Belinda Mary Kumpel
Publisher:
Published: 1973
Total Pages:
ISBN-13:
DOWNLOAD EBOOKAuthor: George Karpati
Publisher: Cambridge University Press
Published: 2001-07-12
Total Pages: 800
ISBN-13: 9780521650625
DOWNLOAD EBOOKRewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Author: Victor Dubowitz
Publisher: Bailliere Tindall Limited
Published: 1995
Total Pages: 552
ISBN-13:
DOWNLOAD EBOOKThis reference focuses on the clinical assessment, diagnosis, management, and prognosis of all forms of muscle diseases that affect children. Includes a readable account of relevant genetics, biochemistry, and molecular biology, in addition to numerous case histories.
Author: Alan E. H. Emery
Publisher: OUP Oxford
Published: 2015-02-19
Total Pages: 300
ISBN-13: 0191503665
DOWNLOAD EBOOKDuchenne 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.
Author: Geoffrey Howard Bourne
Publisher:
Published: 1963
Total Pages: 546
ISBN-13:
DOWNLOAD EBOOKAuthor: Dipak K. Dube
Publisher: Springer Science & Business Media
Published: 2001-10-19
Total Pages: 304
ISBN-13: 9780817642266
DOWNLOAD EBOOKMyofibrillogenesis has been studied extensively over the last 100 years. Until recently, we have not had a comprehensive understanding of this fundamental process. The emergence of new technologies in molecular and cellular biology, combined with classical embryology, have started to unravel some of the complexities of myofibril assembly in striated muscles. In striated muscles, the contractile proteins are arranged in a highly ordered three dimensional lattice known as the sarcomere. The assembly of a myofibril involves the precise ordering of several proteins into a linear array of sarcomeres. Multiple isoforms in many of these proteins further complicate the process, making it difficult to define the precise role of each component. This volume has been compiled as a comprehensive reference on myofibrillogenesis. In addition, the book includes reviews on myofibrillar disarray under various pathological conditions, such as familial hypertrophic cardiomyopathy (FHC), and incorporates a section on the conduction system in the heart. Much of the information in this volume has not been described elsewhere. Presented in a manner to be of value to students and teachers alike, "Myofibrillogenesis" will be an invaluable reference source for all in the fields of muscle biology and heart development.
Author: Rudolf Jaenisch
Publisher:
Published: 2020-10-08
Total Pages: 128
ISBN-13: 9781013268564
DOWNLOAD EBOOKInnovations in molecular biology are allowing neuroscientists to study the brain with unprecedented resolution, from the level of single molecules to integrated gene circuits. Chief among these innovations is the CRISPR-Cas genome editing technology, which has the precision and scalability to tackle the complexity of the brain. This Colloque Médecine et Recherche has brought together experts from around the world that are applying genome editing to address important challenges in neuroscience, including basic biology in model organisms that has the power to reveal systems-level insight into how the nervous system develops and functions as well as research focused on understanding and treating human neurological disorders. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.
Author: David Cooper
Publisher: Garland Science
Published: 2004-03-01
Total Pages: 250
ISBN-13: 0203483677
DOWNLOAD EBOOKFacioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects.
Author: Jaroslava Halper
Publisher: Springer Science & Business Media
Published: 2014-01-18
Total Pages: 246
ISBN-13: 9400778937
DOWNLOAD EBOOKThis volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.
Author: Aziz Shaibani
Publisher: Oxford University Press
Published: 2024
Total Pages: 785
ISBN-13: 0197632580
DOWNLOAD EBOOKA Video Atlas of Neuromuscular Disorders is the essential reference on adult neuromuscular disorders and their diagnosis and treatment. Perfect for preparing for the neurology and neuromuscular boards, this book and accompanying videos have become an invaluable resource for neurology and neuromuscular training programs, while catering to the too-busy and often-overwhelmed modern doctor with its straightforward structure and language.