Carmen Espinos

Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies - Advances in Experimental Medicine and Biology Carmen Espinos 2009 edition

Marc Notes: 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, November 16-18, 2008.; Includes bibliographical references and index. Table of Contents: 1. Pathology and Diagnosis of Muscular Dystrophies / Carmen Navarro, Susana Teijeira, Beatriz San MillAn -- 2. Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations / Thomas Sejerson, Kate Bushby on Behalf of the TREAT-NMD EU Network of Excellence 3. Genetics and Pathogenesis of Distal Muscular Dystrophies / Bjarne Udd -- 4. Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme(R) / Samuel Ignacio Pascual Pascual -- 5. Diseases of the Human Mitochondrial Oxidative Phosphorylation System / Julio Montoya, Ester LOpez-Gallardo, MarIa Dolores Herrero-MartIn, INigo MartInez-Romero, Aurora GOmez-DurAn, David Pacheu, Magdalena Carreras, Carmen DIez-SAnchez, Manuel J. LOpez-PErez, Eduardo Ruiz-Pesini -- 6. Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes / Antonella Spinazzola, Massimo Zeviani -- 7. Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects / Cristina Ugalde, MarIa MorAn, Alberto BlAzquez, JoaquIn Arenas, Miguel A. MartIn -- 8. Coenzyme Q10 Deficiencies in Neuromuscular Diseases / Rafael Artuch, Leonardo Salviati, Sandra Jackson, Michio Hirano, PlAcido Navas -- 9. The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease / Francesc Palau, Anna Estela, David Pla-MartIn, Maribel SAnchez-Piris -- 10. Pathogenesis and Treatment of Mitochondrial Disorders / Salvatore DiMauro, Michio Hirano -- 11. Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions / Michael E. Shy -- 12. Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication / JosE Berciano, Antonio GarcIa, Elena Gallardo, CEsar RamOn, Onofre Combarros -- 13. Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes / Garth Nicholson, Marina Kennerson, Megan Brewer, James Garbern, Michael Shy -- 14. Natural History and Treatment of Peripheral Inherited Neuropathies / Davide Pareyson, Chiara Marchesi -- 15. Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings? / Eduardo Tizzano -- 16. Spinal Muscular Atrophy / JErEmie Vitte, Ruben Attali, Nasim Warwar, Irena Gurt, Judith Melki -- 17. Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies / Pilar GonzAlez-Cabo, JosE Vicente Llorens, Francesc Palau, Maria Dolores MoltO -- 18. Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias / Carmen EspinOs, Francesc Palau -- Index. Publisher Marketing: 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.