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 d SMAX) 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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