Inherited Neuromuscular Diseases (häftad)
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Format
Häftad (Paperback / softback)
Språk
Engelska
Antal sidor
304
Utgivningsdatum
2012-03-14
Upplaga
2009 ed.
Förlag
Springer
Medarbetare
Espinós, Carmen (ed.), Felipo, Vicente (ed.), Palau, Francesc (ed.)
Illustrationer
XIII, 304 p.
Dimensioner
234 x 156 x 17 mm
Vikt
449 g
Antal komponenter
1
Komponenter
1 Paperback / softback
ISBN
9789400730564

Inherited Neuromuscular Diseases

Translation from Pathomechanisms to Therapies

av Carmen Espins, Vicente Felipo, Francesc Palau
Häftad,  Engelska, 2012-03-14
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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.
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Carmen Espins, Vicente Felipo, Francesc Palau

Innehållsförteckning

Pathology and Diagnosis of Muscular Dystrophies.- Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations.- Genetics and Pathogenesis of Distal Muscular Dystrophies.- Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme.- Diseases of the Human Mitochondrial Oxidative Phosphorylation System.- Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes.- Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects.- Coenzyme Q10 Deficiencies in Neuromuscular Diseases.- The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease.- Pathogenesis and Treatment of Mitochondrial Disorders.- Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions.- Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication.- Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes.- Natural History and Treatment of Peripheral Inherited Neuropathies.- Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings?.- Spinal Muscular Atrophy.- Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies.- Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias.

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