Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.
Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.
Alan EH Emery is a qualified physician, scientist and educator with wide experience of patient care and human genetics laboratory research. He has published over 400 scientific papers and written or edited 30 books regarding clinical, biochemical and genetic studies in neuromuscular disorders. For his work over the last 40 years he has received many national and international awards, including the Lifetime Achievement Award of the World Federation of Neurology. He is currently a Vice-President of the Muscular Dystrophy Campaign of Great Britain. Francesco Muntoni specialised in Child Neurology and Psychiatry in Italy before moving to England in 1993. From 1993 he worked at Hammersmith Hospital's Neuromuscular Centre under the direction of Professor Victor Dubowitz and after 1996 as the Centre's Research and Clinical Director. Ros Quinlivan trained at University College London, initially in Psychology and, subsequently, medicine. 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. yhe
Inhaltsangabe
1: Introduction 2: History of the disease 3: Clinical features 4: Confirmation of the diagnosis 5: Differential diagnosis 6: Involvement of tissues other than skeletal muscle 7: Biochemistry of Duchenne muscular dystrophy 8: Genetics 9: Molecular pathology 10: Pathogenesis 11: Prevention 12: Genetic counselling 13: Management Appendices
1: Introduction 2: History of the disease 3: Clinical features 4: Confirmation of the diagnosis 5: Differential diagnosis 6: Involvement of tissues other than skeletal muscle 7: Biochemistry of Duchenne muscular dystrophy 8: Genetics 9: Molecular pathology 10: Pathogenesis 11: Prevention 12: Genetic counselling 13: Management Appendices
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