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This textbook will serve as a useful reference for neurologists and specialist trainees in neurology, neuroscientists, neurophysiologists, and other healthcare professionals.
David Hilton-Jones, Consultant Neurologist, Department of Clinical Neurology, Department of Neurosciences, John Radcliffe Hospital, Oxford, UK,Martin Turner, Consultant Neurologist, Department of Clinical Neurology, Department of Neurosciences, John Radcliffe Hospital, Oxford, UK
Dr David Hilton-Jones is Consultant Neurologist at the University of Oxford and John Radcliffe Hospital, Oxford UK and Clinical Director, Muscular Dystrophy Campaign Muscle and Nerve Centre. Dr Hilton-Jones developed an interest in muscle diseases when working for Dr John Morgan-Hughes at Queen Square, London before spending a year training with the late Professor George Karpati in Montreal. He was appointed as a consultant neurologist in Oxford, UK with the intention of developing services for patients with neuromuscular disorders and is now Clinical Director of the Oxford Muscle & Nerve Centre, supported by the Muscular Dystrophy Campaign. He is also Clinical Director of the Oxford Myasthenia Centre, supported by the Myasthenia Gravis Association. His major interest is in combining clinical practice and research.
Dr Martin Turner is a Consultant Neurologist and Senior Clinician Scientist within the Oxford University Nuffield Department of Clinical Neurosciences. His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them. In particular Dr Turner is interested in the role of the brain in ALS/MND, and using advanced neuroimaging to explore structure and function through his affiliation with the Oxford Centre for the Functional Magnetic Resonance Imaging of the Brain: FMRIB.
Table of Contents
Section 1: Approach to the patient
1. Eliciting the history, David Hilton-Jones and Martin R. Turner
2. Genetic considerations, David Hilton-Jones and Martin R. Turner
3. Examination, David Hilton-Jones and Martin R. Turner
Section 2: Anterior Horn
4. Amyotrophic Lateral Sclerosis, Kevin Talbot and Martin R. Turner
5. Spinal muscular atrophy and hereditary motor neuropathy, Dirk Baumer and Kevin Talbot
6. Kennedy's disease, Kenneth Fischbeck and Christopher Grunseich
7. Poliomyelitis, Robin S. Howard
Section 3: Peripheral Nerve: Inherited
8. Charcot Marie Tooth disease, Mary Reilly and Alex Rossor
9. Hereditary sensory and autonomic neuropathies, Michaela Auer-Grumbach
10. Familial amyloid polyneuropathy, Violaine Plante-Bordeneuve
11. Inherited metabolic neuropathies, Lionel Ginsberg
Section 4: Peripheral Nerve: Acquired
12. Mononeuropathies, Neil G Simon and Matthew C Kiernan
13. Multiple mononeuropathies, J Gareth Llewelyn and Eleanor A Marsh
14. Plexopathy, David LH Bennett and Mohamed Mahdi-Rogers
15. Polyneuropathies: Axonal, Camiel Verhamme and Ivo N van Schaik
16. Polyneuropathies: Demyelinating, Pieter A van Doorn and Judith Drenthen
17. Diabetic neuropathy, Stephen A Goutman, Andrea L. Smith, Stacey A. Sakowski, and Eva L. Feldman
18. Peripheral nerve hyperexcitability disorders, David Hilton-Jones
Section 5: Neuromuscular Junction: Inherited and Acquired
19. Inherited myasthenic syndromes, Jackie Palace and Sarah Finlayson
20. Myasthenia gravis, Saiju Jacob, Stuart Viegas, and David Hilton-Jones
21. The Lambert-Eaton myasthenic syndrome, Maarten J. Titulaer and Jan J G M Verschuuren
Section 6: Muscle
22. The dystrophinopathies, Kevin M. Flanagan
23. Limb-girdle muscular dystrophies, Fiona Norwood and Kate Bushby
24. The congenital muscular dystrophies, Emma Clement and Heinz Jungbluth
25. The myotonic dystrophies, David Hilton-Jones and Chris Turner
26. FSH dystrophy, Baziel Van Engelen, Elly van der Kooi, and Silvere van der Maarel
27. Distal myopathies and myofibrillar myopathies, Bjarne Udd
28. Congenital/ultrastructural myopathies, Gianina Ravenscroft, Nigel F. Clarke, and Nigel G. Liang
29. Metabolic myopathies, John Vissing and Mette Orngreen
30. Mitochondrial cytopathies, Gerald Pfeffer and Patrick F. Chinnery
31. Skeletal muscle channelopathies, Emma Matthews and Michael G. Hanna
32. Idiopathic inflammatory myopathies, Marianne de Visser and Anneke J. van der Kooi
33. Drug-induced neuromuscular disorders, Zohar Argov
34. Endocrine myopathies, Merrilee Needham and Frank Mastaglia
Section 7: Acute neuromuscular consults
35. The neuromuscular emergency consult, Peter Connick and Maxwell S. Damian
36. Critical care of neuromuscular disorders, Maxwell S Damian