Inherited Neuromuscular Diseases
Translation from Pathomechanisms to Therapies
(Sprache: Englisch)
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.
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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.
Klappentext zu „Inherited Neuromuscular Diseases “
This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases "Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies", held in Valencia, Spain, from November 16 to 18, 2008. The symposium represents a part of the continuous efforts on dif- sion of science to the society of the Cátedra Santiago Grisolía and the Fundación Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than 200 inter- tional scientists from different countries of Europe, the USA, and Australia attended the meeting. The venue was the Auditorium of the Science Museum Príncipe Felipe. Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: "It has been estimated that more than one person in every 3,000 has a serious disabling inherited n- romuscular disorder. The suffering caused by these disorders is considerable, but, until the last decade or so, virtually nothing was known of their pathogenesis. Any rationale approach to treatment was therefore out of the question. However, matters are now changing rapidly. The genes for many of these disorders have been localised and characterised and their gene products identi ed and studied. The detection of preclinical disease, the identi cation of heterozygous carriers and prenatal di- nosis are all becoming possible, and, hopefully, effective treatments may no be too far distant.
Inhaltsverzeichnis zu „Inherited Neuromuscular Diseases “
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 Disease F. 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 & 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. 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
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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 Indexdo, C. Ramón and O. Combarros
Chapter 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. Shy
Chapter 13: Natural History
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 Indexdo, C. Ramón and O. Combarros
Chapter 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. Shy
Chapter 13: Natural History
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Bibliographische Angaben
- 2009, 320 Seiten, Masse: 16 x 24,1 cm, Gebunden, Englisch
- Herausgegeben: Carmen Espinós, Francesc Palau, Vicente Felipo
- Verlag: Springer Netherlands
- ISBN-10: 9048128129
- ISBN-13: 9789048128129
- Erscheinungsdatum: 13.10.2009
Sprache:
Englisch
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