Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies by Carmen EspinInherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies by Carmen Espin

Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies

byCarmen EspinEditorVicente Felipo, Francesc Palau

Hardcover | October 13, 2009

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This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.

Title:Inherited Neuromuscular Diseases: Translation from Pathomechanisms to TherapiesFormat:HardcoverDimensions:304 pagesPublished:October 13, 2009Publisher:Springer-Verlag/Sci-Tech/TradeLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:9048128129

ISBN - 13:9789048128129

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Table of Contents

Preface Contributors Chapter 1: Pathology and Diagnosis of Muscular Dystrophies C. Navarro, S. Teijeira and B. San Millán Chapter 2: Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations T. Sejerson and K. Bushby Chapter 3: Genetics and Pathogenesis of Distal Muscular Dystrophies B. Udd Chapter 4: Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results With Myozyme ® S.I. Pascual Pascual Chapter 5: Diseases of the Human Mitochondrial Oxidative Phosphorylation System J. Montoya, E. López-Gallardo, M.D. Herrero-Martín, I. Martínez-Romero, A. Gómez-Durán, D. Pacheu, M. Carreras, M.J. López-Pérez and E. Ruiz-Pesini Chapter 6: Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes A. Spinazzola and M. Zeviani Chapter 7: Mitochondrial Disorders Due to Nuclear Oxphos Gene Defects C. Ugalde, M. Morán, A. Blázquez, J. Arenas and M.A. Martín Chapter 8: Coenzyme Q10 Deficiencies in Neuromuscular Diseases R. Artuch, L. Salviati, S. Jackson, M. Hirano and P. Navas Chapter 9: The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth DiseaseF. Palau, A. Estela, D. Pla-Martin and M. Sánchez-Piris Chapter 10 : Pathogenesis and Treatment of Mitochondrial Disorders S. DiMauro and M. Hirano Chapter 11: Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions M.E. Shy Chapter 12: Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication J. Berciano, A. García, E. Gallardo, C. Ramón and O. Combarros Chapter 12: Genotypes & SensoryPhenotypes in 2 New X-linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes G. Nicholson, M. Kennerson, M. Brewer, J. Garbern and M. Shy Chapter 13: Natural History and Treatment of Peripheral Inherited Neuropathies D. Pareyson and C. Marchesi Chapter 14: Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings? E. Tizzano Chapter 15: Spinal Muscular Atrophy J. Vitte, R. Attali, N. Warwar, I. Gurt and J. Melki Chapter 14: Friedreich Ataxia: an Update on Animal Models, Frataxin Function and Therapies P. González-Cabo, J.V. Llorens, F. Palau, M.D. Moltó Chapter 15: Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias C. Espinós and F. Palau Chapter 16: Experimental Therapies of Demyelinating Neuropathies G. Meyer zu Hörste and M.W. Sereda Index