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 book represents the state of the art of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. It offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments. Many genes with neuromuscular disorders have been reported, confirming the wide genetic heterogeneity of most of diseases of the peripheral nervous system. Genetic analyses allow the unequivocal diagnosis of neonatal, paediatric and adult disease whose etiology has a genetic basis, thus providing a more accurate prediction of natural history and prognosis, and reproductive planning for the family, not only offering genetic counselling and prenatal diagnosis but also preimplantational genetic diagnosis. Moreover, for a number of them molecular and cell pathogenesis is suggesting new molecular targets and, more relevant, novel therapeutic approaches are currently developing to manage and treat these disorders including new drugs and gene and cellular therapies. This is a reference book for neurologists and researchers interested in genetics, cellular biology, pathomechanisms, therapies and treatments of neuropathies.
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 MillánChapter 2: Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations T. Sejerson and K. BushbyChapter 3: Genetics and Pathogenesis of Distal Muscular Dystrophies B. UddChapter 4: Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results With Myozyme ® S.I. Pascual PascualChapter 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-PesiniChapter 6: Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes A. Spinazzola and M. ZevianiChapter 7: Mitochondrial Disorders Due to Nuclear Oxphos Gene Defects C. Ugalde, M. Morán, A. Blázquez, J. Arenas and M.A. MartínChapter 8: Coenzyme Q10 Deficiencies in Neuromuscular Diseases R. Artuch, L. Salviati, S. Jackson, M. Hirano and P. NavasChapter 9: The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth DiseaseF. Palau, A. Estela, D. Pla-Martin and M. Sánchez-PirisChapter 10 : Pathogenesis and Treatment of Mitochondrial Disorders S. DiMauro and M. HiranoChapter 11: Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions M.E. ShyChapter 12: Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication J. Berciano, A. García, E. Gallardo, C. Ramón and O. CombarrosChapter 12: Genotypes & Sensory Phenotypes 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. ShyChapter 13: Natural History and Treatment of Peripheral Inherited Neuropathies D. Pareyson and C. MarchesiChapter 14: Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings? E. TizzanoChapter 15: Spinal Muscular Atrophy J. Vitte, R. Attali, N. Warwar, I. Gurt and J. MelkiChapter 14: Friedreich Ataxia: an Update on Animal Models, Frataxin Function and Therapies P. González-Cabo, J.V. Llorens, F. Palau, M.D. MoltóChapter 15: Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias C. Espinós and F. PalauChapter 16: Experimental Therapies of Demyelinating Neuropathies G. Meyer zu Hörste and M.W. SeredaIndex