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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 o
Oxford University Press
26 februari 2015
Over de auteur
Ros Quinlivan trained at University College London, initially in Psychology and, subsequently, medicine. Her post-graduate training was within London Teaching Hospitals. She has been a Consultant in Neuromuscular Disease for 18 years and has wide clinical experience of both paediatric and adult onset genetic muscular disorders. She is currently the Clinical Lead for Transition for Young Adults with Neuromuscular Disease at Great Ormond Street Hospital and The National Hospital for Neurology and Neurosurgery. She leads the Nationally Commissioned Service for McArdle Disease and related disorders and is joint co-ordinating editor for the Cochrane Neuromuscular Disease Group. In 2010 she was named the Muscular Dystrophy Campaign's 'Clinician of the Year', and is currently an editorial board member for the journal 'Neuromuscular Disorders'.