Inherited neuromuscular diseases : translation from pathomechanisms to therapies
著者
書誌事項
Inherited neuromuscular diseases : translation from pathomechanisms to therapies
（Advances in experimental medicine and biology, v. 652）
Springer Science + Business Media, c2009
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
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 Catedra Santiago Grisolia and the Fundacion 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 Principe 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.
目次
Preface
Contributors Chapter 1: Pathology and Diagnosis of Muscular Dystrophies
C. Navarro, S. Teijeira and B. San Millan 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 (R)
S.I. Pascual Pascual Chapter 5: Diseases of the Human Mitochondrial Oxidative Phosphorylation System
J. Montoya, E. Lopez-Gallardo, M.D. Herrero-Martin, I. Martinez-Romero, A. Gomez-Duran, D. Pacheu, M. Carreras, M.J. Lopez-Perez 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. Moran, A. Blazquez, J. Arenas and M.A. Martin 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. Sanchez-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. Garcia, E. Gallardo, C. Ramon 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. Gonzalez-Cabo, J.V. Llorens, F. Palau, M.D. Molto Chapter 15: Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias
C. Espinos and F. Palau Chapter 16: Experimental Therapies of Demyelinating Neuropathies
G. Meyer zu Hoerste and M.W. Sereda Index
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