Beyond Borders: Myotonic Dystrophies – A European Perception

Beyond Borders: Myotonic Dystrophies – A European Perception
Title Beyond Borders: Myotonic Dystrophies – A European Perception PDF eBook
Author Benedikt Schoser
Publisher Frontiers Media SA
Pages 148
Release 2019-01-21
Genre
ISBN 2889457095

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Myotonic dystrophies (DMs) are pleotropic multisystemic diseases. These dominantly transmitted repeat disorders affect multiple organs of the human body at all ages – from the newborns to the elderly. The present Research Topic represents a timely addition to the expanding body of evidence which aims to provide novel perspectives in our understanding of myotonic dystrophies. This collection of original contributions and standpoint reviews from multiple leading DM centres in Europe describes the state of the art for the characterization of the DMs diseases, the development of molecular strategies to target its multisystemic nature, and provides evidence of screening and testing novel therapeutic avenues.

Landmark Papers in Neurology

Landmark Papers in Neurology
Title Landmark Papers in Neurology PDF eBook
Author Martin R. Turner
Publisher Landmark Papers in
Pages 553
Release 2015
Genre Medical
ISBN 0199658609

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Current understanding of neurological disease has been evolving over the past 150 years. With the increasing and earlier sub-specialization of neurology trainees, and their variable exposure to higher academic study, there is little opportunity to put this development into a historical context as a whole. Understanding the 'evidence-base', or appreciating the lack of it in some cases, is an important part of training but this is rarely presented in a palatable, entertaining form. Part of the Landmark Papers in series, this book brings together the ten most important papers for each sub-speciality within neurology, covering the full range of major neurological conditions. Papers have been selected by leading international experts, who not only summarize what each paper showed, but place them into a wider context that makes a coherent story of how their sub-speciality has developed.

Oxford Textbook of Neuromuscular Disorders

Oxford Textbook of Neuromuscular Disorders
Title Oxford Textbook of Neuromuscular Disorders PDF eBook
Author David Hilton-Jones
Publisher Oxford Textbooks in Clinical N
Pages 399
Release 2014
Genre Medical
ISBN 0199698074

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'The Oxford Textbook of Neuromuscular Disorders' covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders, with a particular focus on the most clinically relevant disorders

Arthrogryposis

Arthrogryposis
Title Arthrogryposis PDF eBook
Author Lynn T. Staheli
Publisher Cambridge University Press
Pages 298
Release 1998-04-28
Genre Medical
ISBN 9780521571067

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The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.

Disorders of Voluntary Muscle

Disorders of Voluntary Muscle
Title Disorders of Voluntary Muscle PDF eBook
Author George Karpati
Publisher Cambridge University Press
Pages 800
Release 2001-07-12
Genre Medical
ISBN 9780521650625

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Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

A Video Atlas of Neuromuscular Disorders

A Video Atlas of Neuromuscular Disorders
Title A Video Atlas of Neuromuscular Disorders PDF eBook
Author Aziz Shaibani
Publisher Oxford University Press
Pages 785
Release 2024
Genre Education
ISBN 0197632580

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A 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.

Heritable Human Genome Editing

Heritable Human Genome Editing
Title Heritable Human Genome Editing PDF eBook
Author The Royal Society
Publisher National Academies Press
Pages 239
Release 2021-01-16
Genre Medical
ISBN 0309671132

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Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.