Download or read book Duchenne Muscular Dystrophy written by Camilla Bernardini and published by Humana Press. This book was released on 2017-10-25 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.

Download or read book Neuromuscular Disorders of Infancy Childhood and Adolescence written by Basil T. Darras and published by Elsevier. This book was released on 2014-12-03 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Duchenne Muscular Dystrophy written by Alan E. H. Emery and published by OUP Oxford. This book was released on 2015-02-19 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne 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.

Download or read book Dystrophin written by Susan C. Brown and published by Cambridge University Press. This book was released on 1997-05-13 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: The absence of dystrophin is the underlying cause of Duchenne muscular dystrophy. This is the first book to address the structure, function, and distribution of dystrophin and its associated proteins in muscle and brain, rather than concentratiing primarily on the disease. It covers an exciting and rapidly expanding field that promises to have important and widespread implications for many aspects of cell biology.

Download or read book Neuromuscular Disorders Management and Treatment E Book written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2010-09-08 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.

Download or read book The Muscular Dystrophies written by Alan E. H. Emery and published by . This book was released on 2001 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity. This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contracture, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy. Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.

Download or read book Cells Molecules and Mechanisms written by Eric Wong and published by Axolotl Academic Publishing. This book was released on 2009 with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Yet another cell and molecular biology book? At the very least, you would think that if I was going to write a textbook, I should write one in an area that really needs one instead of a subject that already has multiple excellent and definitive books. So, why write this book, then? First, it's a course that I have enjoyed teaching for many years, so I am very familiar with what a student really needs to take away from this class within the time constraints of a semester. Second, because it is a course that many students take, there is a greater opportunity to make an impact on more students' pocketbooks than if I were to start off writing a book for a highly specialized upper- level course. And finally, it was fun to research and write, and can be revised easily for inclusion as part of our next textbook, High School Biology."--Open Textbook Library.

Download or read book Fibrous Proteins Structures and Mechanisms written by David A.D. Parry and published by Springer. This book was released on 2017-01-18 with total page 629 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the readers with an up-to-date review of the design, structure and function of a representative selection of fibrous proteins in both health and disease. The importance of the α-helical coiled coil, a conformational motif based on the heptad repeat in the amino acid sequence of all α-fibrous proteins (and parts of some globular proteins) is underlined by three Chapters devoted to its design, structure, function and topology. Specific proteins covered in the text and which depend on the coiled coil for their structure and function, include the intermediate filament proteins, tropomyosin, myosin, paramyosin, fibrin and members of the spectrin superfamily. Also described are fibrous proteins based on the β-pleated sheet and collagen conformations. Recombinant structural proteins, especially of silk and collagen, are discussed in the context of developing new biomaterials with varied applications. Established researchers and postgraduate students in the fields of protein chemistry, biochemistry and structural biophysics will find Fibrous Proteins: Structures and Mechanisms to be an invaluable collection of topical reviews that describe the basic advances made in the field of fibrous proteins over the past decade. This book, written by recognized authorities in the field, provides a clear account of the current status of fibrous protein research and, in addition, establishes the basis for deciding the most appropriate directions for future activity, including the applications of protein engineering and the commercial exploitation of new biomaterials.

Download or read book Post Genomic Cardiology written by José Marín-García and published by Academic Press. This book was released on 2014-05-09 with total page 935 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this second edition of Post-Genomic Cardiology, developing and new technologies such as translational genomics, next generation sequencing (NGS), bioinformatics, and systems biology in molecular cardiology are assessed in light of their therapeutic potential. As new methods of mutation screening emerge, both for the genome and for the “epigenome, comprehensive understanding of the many mutations that underlie cardiovascular diseases and adverse drug reactions is within our reach. This book, written by respected cardiologist José Marín-García, features discussion on the Hap-Map: the largest international effort to date aiming to define the differences between our individual genomes. This unique reference further reviews and investigates genome sequences from our evolutionary relatives that could help us decipher the signals of genes, and offers a comprehensive and critical evaluation of regulatory elements from the complicated network of the background DNA. Offers updated discussion of cutting-edge molecular techniques including new genomic sequencing / NGS / Hap-Map / bioinformatics / systems biology approaches Analyzes mitochondria dynamics and their role in cardiac dysfunction, up-to-date analysis of cardio-protection, and cardio-metabolic syndrome Presents recent translational studies, gene therapy, transplantation of stem cells, and pharmacological treatments in CVDs

Download or read book Cytoskeleton written by Jose C. Jimenez-Lopez and published by BoD – Books on Demand. This book was released on 2017-05-17 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: The cytoskeleton is a highly dynamic intracellular platform constituted by a three-dimensional network of proteins responsible for key cellular roles as structure and shape, cell growth and development, and offering to the cell with "motility" that being the ability of the entire cell to move and for material to be moved within the cell in a regulated fashion (vesicle trafficking). The present edition of Cytoskeleton provides new insights into the structure-functional features, dynamics, and cytoskeleton's relationship to diseases. The authors' contribution in this book will be of substantial importance to a wide audience such as clinicians, researches, educators, and students interested in getting updated knowledge about molecular basis of cytoskeleton, such as regulation of cell vital processes by actin-binding proteins as cell morphogenesis, motility, their implications in cell signaling, as well as strategies for clinical trial and alternative therapies based in multitargeting molecules to tackle diseases, that is, cancer.

Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Download or read book Astrocytes and Epilepsy written by Jacqueline A. Hubbard and published by Academic Press. This book was released on 2016-07-05 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epilepsy is a devastating group of neurological disorders characterized by periodic and unpredictable seizure activity in the brain. There is a critical need for new drugs and approaches given than at least one-third of all epilepsy patients are not made free of seizures by existing medications and become "medically refractory". Much of epilepsy research has focused on neuronal therapeutic targets, but current antiepileptic drugs often cause severe cognitive, developmental, and behavioral side effects. Recent findings indicate a critical contribution of astrocytes, star-shaped glial cells in the brain, to neuronal and network excitability and seizure activity. Furthermore, many important cellular and molecular changes occur in astrocytes in epileptic tissue in both humans and animal models of epilepsy. The goal of Astrocytes and Epilepsy is to comprehensively review exciting findings linking changes in astrocytes to functional changes responsible for epilepsy for the first time in book format. These insights into astrocyte contribution to seizure susceptibility indicate that astrocytes may represent an important new therapeutic target in the control of epilepsy. Astrocytes and Epilepsy includes background explanatory text on astrocyte morphology and physiology, epilepsy models and syndromes, and evidence from both human tissue studies and animal models linking functional changes in astrocytes to epilepsy. Beautifully labelled diagrams are presented and relevant figures from the literature are reproduced to elucidate key findings and concepts in this rapidly emerging field. Astrocytes and Epilepsy is written for neuroscientists, epilepsy researchers, astrocyte investigators as well as neurologists and other specialists caring for patients with epilepsy. Presents the first comprehensive book to synthesize historical and recent research on astrocytes and epilepsy into one coherent volume Provides a great resource on the field of astrocyte biology and astrocyte-neuron interactions Details potential therapeutic targets, including chapters on gap junctions, water and potassium channels, glutamate and adenosine metabolism, and inflammation

Download or read book Genome Editing in Neurosciences written by Rudolf Jaenisch and published by Springer. This book was released on 2018-08-11 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is open access under a CC BY 4.0 license. CRISPR-Cas9 is a rapid, efficient, versatile and relatively cheap method for dissecting the molecular pathways that are the basis of life, as well as for investigating and potentially rectifying faults in these pathways that result in disease. This book reviews how CRISPR-Cas9 and other genome editing techniques are advancing our understanding of development and function in the nervous system, uncovering the molecular causes of neurological disorders and providing tools for gene therapy.

Download or read book Dystrophin Associated 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 92 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dystrophin-Associated Proteins—Advances in Research and Application: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Dystrophin-Associated Proteins in a concise format. The editors have built Dystrophin-Associated Proteins—Advances in Research and Application: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Dystrophin-Associated 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 Dystrophin-Associated 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/.

Download or read book Dystrophin Associated Proteins Advances in Research and Application 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-06-21 with total page 48 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dystrophin-Associated Proteins—Advances in Research and Application: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Dystroglycans in a concise format. The editors have built Dystrophin-Associated Proteins—Advances in Research and Application: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Dystroglycans in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Dystrophin-Associated Proteins—Advances in Research and Application: 2013 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/.

Download or read book Dystrophin Associated Proteins Advances in Research and Application 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dystrophin-Associated Proteins: Advances in Research and Application: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Dystrophin-Associated Proteins in a compact format. The editors have built Dystrophin-Associated Proteins: Advances in Research and Application: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Dystrophin-Associated 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 Dystrophin-Associated Proteins: Advances in Research and Application: 2011 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/.

Download or read book Muscle Gene Therapy written by Dongsheng Duan and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.