Inherited Neuromuscular Diseases : Translation from Pathomechanisms to Therapies /
| Autor Corporativo: | |
|---|---|
| Otros Autores: | , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Dordrecht :
Springer Netherlands : Imprint: Springer,
2009.
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| Edición: | 1st ed. 2009. |
| Colección: | Advances in Experimental Medicine and Biology,
652 |
| Materias: |
Tabla de Contenidos:
- 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.